{"id":840,"date":"2025-04-16T10:44:52","date_gmt":"2025-04-16T10:44:52","guid":{"rendered":"https:\/\/cblc.it\/support-us\/donate-the-5x1000\/5x1000-reporting\/"},"modified":"2026-07-28T08:11:08","modified_gmt":"2026-07-28T08:11:08","slug":"5x1000-reporting","status":"publish","type":"page","link":"https:\/\/cblc.it\/en\/support-us\/donate-the-5x1000\/5x1000-reporting\/","title":{"rendered":"5×1000 Reporting"},"content":{"rendered":"[vc_row type=”in_container” full_screen_row_position=”middle” column_margin=”default” equal_height=”yes” content_placement=”middle” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” scene_position=”center” top_padding=”8%” constrain_group_2=”yes” bottom_padding_tablet=”4%” left_padding_tablet=”6%” constrain_group_4=”yes” right_padding_tablet=”6%” left_padding_phone=”7vw” constrain_group_6=”yes” right_padding_phone=”7vw” text_color=”dark” text_align=”left” row_border_radius=”none” row_border_radius_applies=”bg” overflow=”visible” advanced_gradient_angle=”0″ overlay_strength=”0.3″ gradient_direction=”left_to_right” shape_divider_position=”bottom” bg_image_animation=”none” gradient_type=”default” shape_type=””][vc_column column_element_direction_desktop=”default” column_element_spacing=”0px” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” column_position=”static” advanced_gradient_angle=”65″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” column_padding_type=”advanced” gradient_type=”advanced” advanced_gradient_display_type=”linear”][vc_row_inner column_margin=”default” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” bottom_padding=”7%” text_align=”left” row_position=”default” row_position_tablet=”inherit” row_position_phone=”inherit” overflow=”visible” pointer_events=”all”][vc_column_inner column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”0px” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” overflow=”visible” gradient_direction=”left_to_right” overlay_strength=”0.3″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” enable_animation=”true” animation=”fade-in” animation_easing=”default” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” column_padding_type=”default” gradient_type=”default” animation_offset=”90%”][nectar_animated_shape shape_color=”#009aa9″ width_desktop=”15vw” width_tablet=”20vw” width_phone=”25vw” animation=”none” animation_easing=”default” animation_movement_type=”transform_y” animation_movement_intensity=”0.6″ animation_movement_persist_on_mobile=”true” position_desktop=”absolute” top_position_desktop=”0″ left_position_desktop=”0″ translate_y_desktop=”-30%” translate_x_desktop=”-50%” zindex=”-1″][nectar_highlighted_text scribble_color=”#009aa9″ style=”scribble” scribble_shape=”squiggle-underline” scribble_thickness=”thick” scribble_speed=”1.8s” scribble_easing=”ease_in_out” custom_font_size=”3vw” id=”circle-highlight2″ font_line_height=”1.4″ font_size_tablet=”5vw” font_size_phone=”7vw” text_direction=”default”]\n

5×1000 Reporting<\/em><\/h2>\n[\/nectar_highlighted_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row type=”full_width_content” full_screen_row_position=”middle” column_margin=”default” equal_height=”yes” content_placement=”middle” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” scene_position=”center” top_padding=”4%” bottom_padding=”7%” left_padding_desktop=”7%” constrain_group_2=”yes” right_padding_desktop=”7%” text_color=”dark” text_align=”left” row_border_radius=”none” row_border_radius_applies=”bg” overflow=”visible” advanced_gradient_angle=”0″ overlay_strength=”0.3″ gradient_direction=”left_to_right” shape_divider_position=”bottom” bg_image_animation=”none” gradient_type=”default” shape_type=””][vc_column column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”0px” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” column_position=”relative” advanced_gradient_angle=”180″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”advanced” advanced_gradient_display_type=”linear” column_padding_type=”default”][vc_row_inner column_margin=”none” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” right_padding_desktop=”10%” text_align=”left” row_position=”default” row_position_tablet=”inherit” row_position_phone=”inherit” overflow=”visible” pointer_events=”all”][vc_column_inner column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”default” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” overflow=”visible” advanced_gradient_angle=”0″ gradient_direction=”left_to_right” overlay_strength=”0.3″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” enable_animation=”true” animation=”fade-in” mobile_disable_entrance_animation=”true” animation_easing=”easeOutQuad” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”default” column_padding_type=”default”][split_line_heading animation_type=”line-reveal-by-space” font_style=”h2″ text_color=”#000000″ line_reveal_by_space_text_effect=”default” stagger_animation=”true” mobile_disable_animation=”true” content_alignment=”default” mobile_content_alignment=”inherit” link_target=”_self” text_content=”Destination of 5 per thousand contributions: Contribution received in the year 2025 (financial year 2024): 46.432,80″ font_size=”3vw” font_line_height=”1.3″ text_direction=”default”][\/split_line_heading][vc_column_text css=”” text_direction=”default”]During 2025, the 5 per thousand amount of \u20ac46,432.80<\/strong> for 2024 was recognized and paid to the Italian Association of Methylmalonic Acidemia with Homocystinuria (CBLC) APS. This amount of \u20ac46,432.80<\/strong> was used entirely for a \u20ac50,000 donation to the Fondazione Toscana Life Sciences<\/em>, aimed at supporting Dr. Tinti’s research project “Feasibility study of an enzyme replacement therapy for Methylmalonic Acidemia with Homocystinuria type cblC.” <\/em>The donation to the Foundation was made on March 5, 2026, via bank transfer.
\nSeveral years ago, the Fondazione Toscana Life Sciences completed an exploratory project on the efficacy of a protein replacement therapy for Methylmalonic Acidemia with Homocystinuria (CblC). Preliminary results have shown promising data, paving the way for a new advanced project. The overall goal of the new project will be to demonstrate in vitro that this multisystem disease could be treated with protein replacement therapy (ERT), achieving restoration of normal metabolic pathways in diseased cells after treatment with a recombinant MMACHC protein.
\nWe will attempt to develop an efficient and safe intracellular protein transport system in compliance with regulatory requirements for clinical development. A new recombinant MMACHC protein (re-MMACHC) will be produced, whose efficacy and stability will be tested, as will internalization of the recombinant MMACHC protein in primary human CblC fibroblasts. The cytotoxicity of different concentrations of the re-MMACHC\/carrier will then be assessed by evaluating the proliferative response of the cells. Finally, the ability of re-MMACHC to normalize MMA and HCY levels will be studied using targeted mass spectrometry analysis to verify whether the recombinant protein maintains its correct functionality even after internalization using the specific carrier.
\nIf promising results are obtained, this project could be extended to evaluate the use of re-MMACHC as an ERT in a more sophisticated model of the disease than in primary fibroblasts as an animal model. In vivo studies will be useful to demonstrate that the positive effect of MMACHC administration is not limited to a reduction in the levels of metabolites such as MMA and HCY, but also has a significant impact on all other disease-related symptoms.[\/vc_column_text][nectar_cta btn_style=”material” heading_tag=”span” text_color=”#ff6b3d” link_type=”new_tab” alignment=”left” alignment_tablet=”default” alignment_phone=”default” display=”block” display_tablet=”inherit” display_phone=”inherit” url=”https:\/\/cblc.it\/wp-content\/uploads\/2026\/04\/2025_Rendiconto-contibuto-RND1721662992563419900.pdf” font_size_desktop=”1.1vw” font_size_tablet=”16″ link_text=”Pdf – Financial Statement”][nectar_cta btn_style=”material” heading_tag=”span” text_color=”#ff6b3d” link_type=”new_tab” alignment=”left” alignment_tablet=”default” alignment_phone=”default” display=”block” display_tablet=”inherit” display_phone=”inherit” 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right_padding_desktop=”7%” text_color=”dark” text_align=”left” row_border_radius=”none” row_border_radius_applies=”bg” overflow=”visible” advanced_gradient_angle=”0″ overlay_strength=”0.3″ gradient_direction=”left_to_right” shape_divider_position=”bottom” bg_image_animation=”none” gradient_type=”default” shape_type=””][vc_column column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”0px” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” column_position=”relative” advanced_gradient_angle=”180″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”advanced” advanced_gradient_display_type=”linear” column_padding_type=”default”][vc_row_inner column_margin=”none” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” right_padding_desktop=”10%” text_align=”left” row_position=”default” row_position_tablet=”inherit” row_position_phone=”inherit” overflow=”visible” pointer_events=”all”][vc_column_inner column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”default” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” overflow=”visible” advanced_gradient_angle=”0″ gradient_direction=”left_to_right” overlay_strength=”0.3″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” enable_animation=”true” animation=”fade-in” mobile_disable_entrance_animation=”true” animation_easing=”easeOutQuad” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”default” column_padding_type=”default”][split_line_heading animation_type=”line-reveal-by-space” font_style=”h2″ text_color=”#000000″ line_reveal_by_space_text_effect=”default” stagger_animation=”true” mobile_disable_animation=”true” content_alignment=”default” mobile_content_alignment=”inherit” link_target=”_self” text_content=”Destination of 5 per thousand contributions: Contribution received in the year 2024 (financial year 2023):47.703,91″ font_size=”3vw” font_line_height=”1.3″ text_direction=”default”][\/split_line_heading][vc_column_text css=”” text_direction=”default”]During 2024, the 5 per thousand amount of \u20ac47,703.91 for 2023 was recognized and paid to the Italian Association of Methylmalonic Acidemia with Homocystinuria (CBLC) APS. <\/em>This amount of \u20ac47,703.91 was used entirely for a \u20ac50,000 donation to the Telethon Foundation<\/strong>, aimed at supporting Dr. Caterino’s research project “Multiomic analysis of alterations in mitochondrial, autophagic, and lysosomal homeostasis in methylmalonic acidemia cblC<\/strong>.” The donation to the Foundation was made on March 3, 2025, by bank transfer.
\nDr. Caterino’s project was submitted as part of the Telethon Foundation’s Fall Seed Grant 2024<\/em> call, which opened on October 15, 2024 (submission deadline is November 28, 2024), in which the Association participated. This funding initiative supports 12-month research start-up projects focused exclusively on cblC, to investigate new therapeutic hypotheses and understand the molecular and pathophysiological mechanisms underlying cblC. Telethon Foundation was responsible for collecting the projects and entrusting their selection to a specially formed scientific committee of experts. The Commission selected two projects worthy of funding (presented respectively by Dr. Caterino (Federico II University of Naples) and Dr. Cantore (Vita e Salute San Raffaele University), and the Telethon Foundation presented them in detail to the Association.
\nThe Italian Association of Methylmalonic Acidemia with Homocystinuria (CBLC) has chosen to fully fund Dr. Caterino’s research project through its 5xmille donation for the 2023 financial year.
\nThis project aims to understand the cellular mechanisms underlying the development of the disease itself, focusing on processes such as lysosomal and autophagic function. Recent studies suggest that these processes may be altered in similar metabolic disorders, contributing to cellular damage.
\nAdvanced multiomics techniques will be used, with particular attention to the identification and qualitative and quantitative characterization of proteins, metabolites, and lipids involved, in order to describe disease-specific cellular profiles. The project aims to identify possible lysosomal dysfunctions. and autophagic changes that contribute to the disease, with the aim of determining whether these cellular alterations are common features of different types of methylmalonic acidemia and how they relate to known alterations, such as mitochondrial and\/or oxidative stress-related ones.
\nThe project aims to be a preliminary exploratory study, useful for the future development of new therapeutic strategies capable of improving patients’ quality of life.<\/strong>[\/vc_column_text][nectar_cta btn_style=”material” heading_tag=”span” text_color=”#ff6b3d” link_type=”new_tab” alignment=”left” alignment_tablet=”default” alignment_phone=”default” display=”block” display_tablet=”inherit” display_phone=”inherit” url=”http:\/\/cblc.it\/wp-content\/uploads\/2025\/11\/Rendiconto2024_contibuto_RND1500159326047501600.pdf” font_size_desktop=”1.1vw” font_size_tablet=”16″ link_text=”Pdf – Financial Statement”][nectar_cta btn_style=”material” heading_tag=”span” text_color=”#ff6b3d” link_type=”new_tab” alignment=”left” alignment_tablet=”default” alignment_phone=”default” display=”block” display_tablet=”inherit” display_phone=”inherit” url=”http:\/\/cblc.it\/wp-content\/uploads\/2025\/11\/Elenco_giustificativi_5x1000_2024.pdf” font_size_desktop=”1.1vw” font_size_tablet=”16″ link_text=”Pdf – LIST OF SUPPORTING DOCUMENTS”][nectar_cta btn_style=”material” heading_tag=”span” text_color=”#ff6b3d” link_type=”new_tab” alignment=”left” alignment_tablet=”default” alignment_phone=”default” display=”block” display_tablet=”inherit” display_phone=”inherit” url=”http:\/\/cblc.it\/wp-content\/uploads\/2025\/11\/relazione_5xmille_aps_2024.pdf” font_size_desktop=”1.1vw” font_size_tablet=”16″ link_text=”Pdf – REPORT”][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row type=”full_width_content” full_screen_row_position=”middle” column_margin=”default” equal_height=”yes” content_placement=”middle” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” scene_position=”center” top_padding=”4%” bottom_padding=”7%” left_padding_desktop=”7%” constrain_group_2=”yes” right_padding_desktop=”7%” text_color=”dark” text_align=”left” row_border_radius=”none” row_border_radius_applies=”bg” overflow=”visible” advanced_gradient_angle=”0″ overlay_strength=”0.3″ gradient_direction=”left_to_right” shape_divider_position=”bottom” bg_image_animation=”none” gradient_type=”default” shape_type=””][vc_column column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”0px” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” column_position=”relative” advanced_gradient_angle=”180″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”advanced” advanced_gradient_display_type=”linear” column_padding_type=”default”][vc_row_inner column_margin=”none” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” right_padding_desktop=”10%” text_align=”left” row_position=”default” row_position_tablet=”inherit” row_position_phone=”inherit” overflow=”visible” pointer_events=”all”][vc_column_inner column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”default” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” overflow=”visible” advanced_gradient_angle=”0″ gradient_direction=”left_to_right” overlay_strength=”0.3″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” enable_animation=”true” animation=”fade-in” mobile_disable_entrance_animation=”true” animation_easing=”easeOutQuad” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”default” column_padding_type=”default”][split_line_heading animation_type=”line-reveal-by-space” font_style=”h2″ text_color=”#000000″ line_reveal_by_space_text_effect=”default” stagger_animation=”true” mobile_disable_animation=”true” content_alignment=”default” mobile_content_alignment=”inherit” link_target=”_self” text_content=”Destination of 5 per thousand contributions: Contribution received in the year 2023 (financial year 2022): 44.521,28″ font_size=”3vw” font_line_height=”1.3″ text_direction=”default”][\/split_line_heading][vc_column_text css=”” text_direction=”default”]During the year 2023, the 5 per thousand amount relating to the year 2022 equal to Euro 44,521.28 was recognized and paid to the Association<\/em><\/p>\n

The entire amount was used for a donation of \u20ac50,000 to support a research project on enzyme replacement therapy (ERT therapy) by the Fondazione Toscana Life Sciences.<\/strong><\/p>\n

Several years ago, Fondazione Toscana Life Sciences completed an exploratory project investigating the efficacy of protein replacement therapy for Methylmalonic Acidemia with Homocystinuria (MCHC). Preliminary results showed promising data, paving the way for a new advanced project. The overall goal of the new project will be to demonstrate in vitro that this multisystem disease can be treated with protein replacement therapy (ERT), achieving restoration of normal metabolic pathways in diseased cells after treatment with a recombinant MMACHC protein. <\/p>\n

An effort will be made to develop an efficient and safe intracellular protein delivery system in compliance with regulatory requirements for clinical development. A novel recombinant MMACHC protein (re-MMACHC) will be produced, whose efficacy and stability will be tested, as will internalization of the recombinant MMACHC protein into primary human CblC fibroblasts. The cytotoxicity of different concentrations of the re-MMACHC\/carrier will then be assessed by evaluating the cell proliferative response. Finally, the ability of re-MMACHC to normalize MMA and HCY levels will be studied using targeted mass spectrometry analysis to verify whether the recombinant protein maintains its proper functionality even after internalization using the specific carrier. <\/p>\n

If promising results are obtained,<\/strong> this project could be extended to evaluate the use of re-MMACHC as an ERT in a more sophisticated model of the disease than primary fibroblasts as an animal model.<\/p>\n

In vivo studies will be useful to demonstrate that the positive effect of MMACHC administration will not be limited to a reduction in the levels of metabolites such as MMA and HCY but will also have a significant impact on all other symptoms related to the disease.[\/vc_column_text][nectar_cta btn_style=”material” heading_tag=”span” text_color=”#ff6b3d” link_type=”new_tab” alignment=”left” alignment_tablet=”default” alignment_phone=”default” display=”block” display_tablet=”inherit” display_phone=”inherit” url=”https:\/\/cblc.it\/wp-content\/uploads\/2025\/02\/Rendiconto_contibuto_RND422308576327582980.pdf” font_size_desktop=”1.1vw” font_size_tablet=”16″ link_text=”Pdf – Financial Statement”][nectar_cta btn_style=”material” heading_tag=”span” text_color=”#ff6b3d” link_type=”new_tab” alignment=”left” alignment_tablet=”default” alignment_phone=”default” display=”block” display_tablet=”inherit” display_phone=”inherit” url=”https:\/\/cblc.it\/wp-content\/uploads\/2025\/02\/lista_giustificativi.pdf” font_size_desktop=”1.1vw” font_size_tablet=”16″ link_text=”Pdf – LIST OF SUPPORTING DOCUMENTS”][nectar_cta btn_style=”material” heading_tag=”span” text_color=”#ff6b3d” link_type=”new_tab” alignment=”left” alignment_tablet=”default” alignment_phone=”default” display=”block” display_tablet=”inherit” display_phone=”inherit” url=”https:\/\/cblc.it\/wp-content\/uploads\/2025\/02\/relazione_5xmille_aps.pdf” font_size_desktop=”1.1vw” font_size_tablet=”16″ link_text=”Pdf – REPORT”][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row type=”full_width_content” full_screen_row_position=”middle” column_margin=”default” equal_height=”yes” content_placement=”middle” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” scene_position=”center” top_padding=”2%” bottom_padding=”7%” left_padding_desktop=”7%” constrain_group_2=”yes” right_padding_desktop=”7%” text_color=”dark” text_align=”left” row_border_radius=”none” row_border_radius_applies=”bg” overflow=”visible” advanced_gradient_angle=”0″ overlay_strength=”0.3″ gradient_direction=”left_to_right” shape_divider_position=”bottom” bg_image_animation=”none” gradient_type=”default” shape_type=””][vc_column column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”0px” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” column_position=”relative” advanced_gradient_angle=”180″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”advanced” advanced_gradient_display_type=”linear” column_padding_type=”default”][vc_row_inner column_margin=”none” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” right_padding_desktop=”10%” text_align=”left” row_position=”default” row_position_tablet=”inherit” row_position_phone=”inherit” overflow=”visible” pointer_events=”all”][vc_column_inner column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”default” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” overflow=”visible” advanced_gradient_angle=”0″ gradient_direction=”left_to_right” overlay_strength=”0.3″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” enable_animation=”true” animation=”fade-in” mobile_disable_entrance_animation=”true” animation_easing=”easeOutQuad” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”default” column_padding_type=”default”][split_line_heading animation_type=”line-reveal-by-space” font_style=”h2″ text_color=”#000000″ line_reveal_by_space_text_effect=”default” stagger_animation=”true” mobile_disable_animation=”true” content_alignment=”default” mobile_content_alignment=”inherit” link_target=”_self” text_content=”Contribution received in 2022 (financial year 2021): 46.451,81″ font_size=”3vw” font_line_height=”1.3″ text_direction=”default”][\/split_line_heading][vc_column_text css=”” text_direction=”default”]During 2022, the 5 per thousand amount relating to 2021, equal to Euro 46,451.81<\/strong>, was recognized and paid to the Association.<\/em><\/p>\n

The entire proceeds went to support the Association’s first patient\/expert conference, held in Florence on October 20 and 21, 2023. The conference’s purpose was to provide member families with the opportunity to meet and engage with leading experts in the disease. More than 50 families and 20 speakers attended the conference. <\/p>\n

The first day of the conference was primarily dedicated to presenting the Association, its goals, and the projects it has funded over the years. The second day had a purely scientific focus, with presentations by clinicians, researchers, and geneticists, presenting the various research projects funded by the Association and illustrating potential therapeutic options. <\/p>\n

Specifically, the researchers reported the initial results of the Metaboloma project, the CNR project, and the Medaka project. Finally, new work was presented that could offer hope for a potential enzyme and gene therapy.[\/vc_column_text][nectar_cta btn_style=”material” heading_tag=”span” text_color=”#ff6b3d” link_type=”new_tab” alignment=”left” alignment_tablet=”default” alignment_phone=”default” display=”block” display_tablet=”inherit” display_phone=”inherit” url=”https:\/\/cblc.it\/wp-content\/uploads\/2025\/02\/Rendiconto-contibuto-RND1061794550817764200.pdf” font_size_desktop=”1.1vw” font_size_tablet=”16″ link_text=”Pdf – Financial Statement”][nectar_cta btn_style=”material” heading_tag=”span” text_color=”#ff6b3d” link_type=”new_tab” alignment=”left” alignment_tablet=”default” alignment_phone=”default” display=”block” display_tablet=”inherit” display_phone=”inherit” url=”https:\/\/cblc.it\/wp-content\/uploads\/2025\/02\/lista_giustificativi-1.pdf” font_size_desktop=”1.1vw” font_size_tablet=”16″ link_text=”Pdf – LIST OF SUPPORTING DOCUMENTS”][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row type=”full_width_content” full_screen_row_position=”middle” column_margin=”default” equal_height=”yes” content_placement=”middle” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” scene_position=”center” top_padding=”2%” bottom_padding=”7%” left_padding_desktop=”7%” constrain_group_2=”yes” right_padding_desktop=”7%” text_color=”dark” text_align=”left” row_border_radius=”none” row_border_radius_applies=”bg” overflow=”visible” advanced_gradient_angle=”0″ overlay_strength=”0.3″ gradient_direction=”left_to_right” shape_divider_position=”bottom” bg_image_animation=”none” gradient_type=”default” shape_type=””][vc_column column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”0px” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” column_position=”relative” advanced_gradient_angle=”180″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”advanced” advanced_gradient_display_type=”linear” column_padding_type=”default”][vc_row_inner column_margin=”none” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” right_padding_desktop=”10%” text_align=”left” row_position=”default” row_position_tablet=”inherit” row_position_phone=”inherit” overflow=”visible” pointer_events=”all”][vc_column_inner column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”default” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” overflow=”visible” advanced_gradient_angle=”0″ gradient_direction=”left_to_right” overlay_strength=”0.3″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” enable_animation=”true” animation=”fade-in” mobile_disable_entrance_animation=”true” animation_easing=”easeOutQuad” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”default” column_padding_type=”default”][split_line_heading animation_type=”line-reveal-by-space” font_style=”h2″ text_color=”#000000″ line_reveal_by_space_text_effect=”default” stagger_animation=”true” mobile_disable_animation=”true” content_alignment=”default” mobile_content_alignment=”inherit” link_target=”_self” text_content=”Contribution received in 2021 (financial year 2020): \u20ac39.590,99″ font_size=”3vw” font_line_height=”1.3″ text_direction=”default”][\/split_line_heading][vc_column_text css=”” text_direction=”default”]During 2021, the 5 per thousand amount relating to the year 2020 equal to Euro 39,590.99<\/strong> was recognized and paid to the Association.<\/em><\/p>\n

Part of the amount, equal to \u20ac28,528.23, was used to support the research project entitled “IDENTIFICATION OF COMPOUNDS TO RESCUE MMACHC FUNCTIONAL DEFICIENCY IN CBLC DISEASE.” The project aims to study some cblC mutations that result in reduced functionality of the corresponding protein. <\/p>\n

The goal is to try to recover the aforementioned functionality by testing various molecules approved by the EMA and FDA. A portion of the 5xmille donation was also used to make a donation of \u20ac11,000<\/strong> to the Bambino Ges\u00f9 Foundation to support an ongoing study at the Bambino Ges\u00f9 Hospital in Rome on organic acidurias, and in particular on cobalamin C deficiency. On October 10, 2022, a bank transfer of \u20ac11,000 was made to the Bambino Ges\u00f9 Foundation. <\/p>\n

The remaining portion of the 5xmille 2021, equal to Euro 62.76<\/strong>, was used to partially cover the cost of the printer purchased on 04\/23\/2022 equal to Euro 69.99.[\/vc_column_text][nectar_cta btn_style=”material” heading_tag=”span” text_color=”#ff6b3d” link_type=”new_tab” alignment=”left” alignment_tablet=”default” alignment_phone=”default” display=”block” display_tablet=”inherit” display_phone=”inherit” url=”https:\/\/cblc.it\/wp-content\/uploads\/2025\/02\/Rendiconto-5xmille-anno-finanziario-2020.pdf” font_size_desktop=”1.1vw” font_size_tablet=”16″ link_text=”Pdf – Financial Statement”][nectar_cta btn_style=”material” heading_tag=”span” text_color=”#ff6b3d” link_type=”new_tab” alignment=”left” alignment_tablet=”default” alignment_phone=”default” display=”block” display_tablet=”inherit” display_phone=”inherit” url=”https:\/\/cblc.it\/wp-content\/uploads\/2025\/02\/Relazione-5xmille-anno-finanziario-2020.pdf” font_size_desktop=”1.1vw” font_size_tablet=”16″ link_text=”Pdf – REPORT”][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row type=”full_width_content” full_screen_row_position=”middle” column_margin=”default” equal_height=”yes” content_placement=”middle” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” scene_position=”center” top_padding=”2%” bottom_padding=”7%” left_padding_desktop=”7%” constrain_group_2=”yes” right_padding_desktop=”7%” text_color=”dark” text_align=”left” row_border_radius=”none” row_border_radius_applies=”bg” overflow=”visible” advanced_gradient_angle=”0″ overlay_strength=”0.3″ gradient_direction=”left_to_right” shape_divider_position=”bottom” bg_image_animation=”none” gradient_type=”default” shape_type=””][vc_column column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”0px” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” column_position=”relative” advanced_gradient_angle=”180″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”advanced” advanced_gradient_display_type=”linear” column_padding_type=”default”][vc_row_inner column_margin=”none” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” right_padding_desktop=”10%” text_align=”left” row_position=”default” row_position_tablet=”inherit” row_position_phone=”inherit” overflow=”visible” pointer_events=”all”][vc_column_inner column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”default” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” overflow=”visible” advanced_gradient_angle=”0″ gradient_direction=”left_to_right” overlay_strength=”0.3″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” enable_animation=”true” animation=”fade-in” mobile_disable_entrance_animation=”true” animation_easing=”easeOutQuad” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”default” column_padding_type=”default”][split_line_heading animation_type=”line-reveal-by-space” font_style=”h2″ text_color=”#000000″ line_reveal_by_space_text_effect=”default” stagger_animation=”true” mobile_disable_animation=”true” content_alignment=”default” mobile_content_alignment=”inherit” link_target=”_self” text_content=”Contribution received in 2020 (financial year 2019): 35.857,78″ font_size=”3vw” font_line_height=”1.3″ text_direction=”default”][\/split_line_heading][vc_column_text css=”” text_direction=”default”]During 2020, the 5 per thousand amount relating to 2019, equal to Euro 35,857.78, was recognized and paid to the Association.<\/em><\/p>\n

The entire amount was used to cover part of the cost of the project “Generation and characterization of a knockout MMACHC model in Medaka”. The cblC Onlus Association donated \u20ac40,000 to the TELETHON FOUNDATION to cover part of the total project cost of \u20ac60,000.[\/vc_column_text][nectar_cta btn_style=”material” heading_tag=”span” text_color=”#ff6b3d” link_type=”new_tab” alignment=”left” alignment_tablet=”default” alignment_phone=”default” display=”block” display_tablet=”inherit” display_phone=”inherit” url=”https:\/\/cblc.it\/wp-content\/uploads\/2025\/02\/rendiconto_5xmille_2019.pdf” font_size_desktop=”1.1vw” font_size_tablet=”16″ link_text=”Pdf – STATEMENT and REPORT”][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row type=”full_width_content” full_screen_row_position=”middle” column_margin=”default” equal_height=”yes” content_placement=”middle” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” scene_position=”center” top_padding=”2%” bottom_padding=”7%” left_padding_desktop=”7%” constrain_group_2=”yes” right_padding_desktop=”7%” text_color=”dark” text_align=”left” row_border_radius=”none” row_border_radius_applies=”bg” overflow=”visible” advanced_gradient_angle=”0″ overlay_strength=”0.3″ gradient_direction=”left_to_right” shape_divider_position=”bottom” bg_image_animation=”none” gradient_type=”default” shape_type=””][vc_column column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”0px” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” column_position=”relative” advanced_gradient_angle=”180″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”advanced” advanced_gradient_display_type=”linear” column_padding_type=”default”][vc_row_inner column_margin=”none” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” right_padding_desktop=”10%” text_align=”left” row_position=”default” row_position_tablet=”inherit” row_position_phone=”inherit” overflow=”visible” pointer_events=”all”][vc_column_inner column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”default” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” overflow=”visible” advanced_gradient_angle=”0″ gradient_direction=”left_to_right” overlay_strength=”0.3″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” enable_animation=”true” animation=”fade-in” mobile_disable_entrance_animation=”true” animation_easing=”easeOutQuad” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”default” column_padding_type=”default”][split_line_heading animation_type=”line-reveal-by-space” font_style=”h2″ text_color=”#000000″ line_reveal_by_space_text_effect=”default” stagger_animation=”true” mobile_disable_animation=”true” content_alignment=”default” mobile_content_alignment=”inherit” link_target=”_self” text_content=”Contribution received in 2020 (financial year 2018): 18.417,67″ font_size=”3vw” font_line_height=”1.3″ text_direction=”default”][\/split_line_heading][vc_column_text css=”” text_direction=”default”]During 2020, the 5 per thousand amount relating to 2018, equal to Euro 18,417.67<\/strong>, was recognized and paid to the Association.<\/em><\/p>\n

The entire amount was used to cover part of the project “Generation and Characterization of a Knockout MMACHC Model in Medaka.” The cblC Onlus Association donated \u20ac20,000 to the Bambino Ges\u00f9 Onlus Foundation to cover part of the project’s total cost of \u20ac60,000.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row type=”full_width_content” full_screen_row_position=”middle” column_margin=”default” equal_height=”yes” content_placement=”middle” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” scene_position=”center” top_padding=”2%” bottom_padding=”7%” left_padding_desktop=”7%” constrain_group_2=”yes” right_padding_desktop=”7%” text_color=”dark” text_align=”left” row_border_radius=”none” row_border_radius_applies=”bg” overflow=”visible” advanced_gradient_angle=”0″ overlay_strength=”0.3″ gradient_direction=”left_to_right” shape_divider_position=”bottom” bg_image_animation=”none” gradient_type=”default” shape_type=””][vc_column column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”0px” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” column_position=”relative” advanced_gradient_angle=”180″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”advanced” advanced_gradient_display_type=”linear” column_padding_type=”default”][vc_row_inner column_margin=”none” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” right_padding_desktop=”10%” text_align=”left” row_position=”default” row_position_tablet=”inherit” row_position_phone=”inherit” overflow=”visible” pointer_events=”all”][vc_column_inner column_padding=”no-extra-padding” column_padding_tablet=”inherit” column_padding_phone=”inherit” column_padding_position=”all” column_element_direction_desktop=”default” column_element_spacing=”default” desktop_text_alignment=”default” tablet_text_alignment=”default” phone_text_alignment=”default” background_color_opacity=”1″ background_hover_color_opacity=”1″ column_backdrop_filter=”none” column_shadow=”none” column_border_radius=”none” column_link_target=”_self” overflow=”visible” advanced_gradient_angle=”0″ gradient_direction=”left_to_right” overlay_strength=”0.3″ width=”1\/1″ tablet_width_inherit=”default” animation_type=”default” enable_animation=”true” animation=”fade-in” mobile_disable_entrance_animation=”true” animation_easing=”easeOutQuad” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid” gradient_type=”default” column_padding_type=”default”][split_line_heading animation_type=”line-reveal-by-space” font_style=”h2″ text_color=”#000000″ line_reveal_by_space_text_effect=”default” stagger_animation=”true” mobile_disable_animation=”true” content_alignment=”default” mobile_content_alignment=”inherit” link_target=”_self” text_content=”Contribution received in 2019 (financial year 2017): 13.332,96″ font_size=”3vw” font_line_height=”1.3″ text_direction=”default”][\/split_line_heading][vc_column_text css=”” text_direction=”default”]During 2019, the 5 per thousand contribution for 2017, amounting to \u20ac13,332.96<\/strong>, was recognized and paid to the Association.<\/em>
\nThe entire amount was used to cover part of the cost of the Thermo Scientific Q Exactive Orbitrap LC-MS\/MS System, intended for the Bambino Ges\u00f9 Children’s Hospital in Rome for the untargeted study of the “metabolome” and “lipidome.”[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row]\n","protected":false},"excerpt":{"rendered":"

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