{"id":975,"date":"2025-02-21T09:38:29","date_gmt":"2025-02-21T09:38:29","guid":{"rendered":"https:\/\/cblc.it\/about-us\/storia-e-finalita\/"},"modified":"2026-07-31T10:44:49","modified_gmt":"2026-07-31T10:44:49","slug":"storia-e-finalita","status":"publish","type":"page","link":"https:\/\/cblc.it\/en\/about-us\/storia-e-finalita\/","title":{"rendered":"History and Aims"},"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%” bottom_padding=”5%” 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

The cblC aps, the Italian Association of Methylmalonic Acidemia with Homocystinuria cblC type<\/em><\/h2>\n[\/nectar_highlighted_text][\/vc_column_inner][\/vc_row_inner][vc_row_inner column_margin=”default” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” 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” gradient_direction=”left_to_right” overlay_strength=”0.3″ 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=”default” gradient_type=”default”][vc_column_text css=”” text_direction=”default” el_class=”custom-list”]was set up in March 2017, by the initiative of some parents of children affected by cobalamin C deficiency, from all over Italy, with the purposeful intention to support scientific research<\/strong> and every initiative aimed at improving the quality of life of patients and their families.<\/p>\n

The founders met online, where people often seek refuge when they encounter a disease with a strange and complicated name (Methylmalonic Acidemia with Homocystinuria) for the first time. However, once the initial pain and confusion have passed, people quickly learn to pronounce it impeccably and to type it repeatedly into search engines, hoping to find answers to questions they never imagined they would have to ask and in search of people who are facing the same problems and fears.<\/p>\n

In February 2013<\/strong>, after having met other parents and realized that she was not alone, a mother found the courage to create a virtual “family”: a group in which people could recognize themselves, share experiences and help each other as much as possible. More or less at the same time, a trial of an experimental drug involving a large number of families from all over Italy was started at Bambin Ges\u00f9 Children’s Hospital in Rome: this event gave the chance to transform many virtual friendships into real ones. <\/p>\n

In 2014<\/strong> such \u201cfamily\u201d was so numerous that the idea of creating a specific association for the cblC began to take shape. This step, ambitious and too demanding for many, remained just a good intention for a while. Until the wide participation to the first data collection project for statistical purposes within the group members rekindled hope and determination once again. A few years later, in 2017<\/strong>, thanks to the tenacity of five families, cblC aps was born<\/strong>, with a motto that is also a mission: <\/strong>[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_row_inner column_margin=”default” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” 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” gradient_direction=”left_to_right” overlay_strength=”0.3″ width=”1\/2″ tablet_width_inherit=”default” animation_type=”default” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid”][image_with_animation image_url=”612″ image_size=”full” animation_type=”entrance” animation=”None” animation_movement_type=”transform_y” hover_animation=”none” alignment=”” border_radius=”none” box_shadow=”none” image_loading=”default” max_width=”100%” max_width_mobile=”default”][\/vc_column_inner][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” gradient_direction=”left_to_right” overlay_strength=”0.3″ width=”1\/2″ tablet_width_inherit=”default” animation_type=”default” bg_image_animation=”none” border_type=”simple” column_border_width=”none” column_border_style=”solid”][nectar_highlighted_text text_color=”#009ba7″ 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

<\/h2>\n

“we cannot direct the wind, but we can adjust the sails!”<\/h2>\n[\/nectar_highlighted_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][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=”2%” bottom_padding=”5%” constrain_group_2=”yes” constrain_group_6=”yes” 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_highlighted_text scribble_color=”#77b741″ style=”scribble” scribble_shape=”squiggle-underline-2″ 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=”4vw” font_size_phone=”5vw” text_direction=”default”]\n

Mission and aims<\/h2>\n[\/nectar_highlighted_text][\/vc_column_inner][\/vc_row_inner][vc_row_inner column_margin=”default” column_direction=”default” column_direction_tablet=”default” column_direction_phone=”default” 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” gradient_direction=”left_to_right” overlay_strength=”0.3″ 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=”default” gradient_type=”default”][vc_column_text css=”” text_direction=”default” el_class=”custom-list”]The cblC is the most frequent form<\/em> of Methylmalonic Acidemia with Homocystinuria<\/p>\n

To date, there are an estimated 30,000 to 35,000 cases worldwide, with a significant concentration in Asia. As far as Europe is concerned, the pathology is mainly represented in southern Europe: Italy<\/strong>, Spain and Portugal. In recent years, our country has seen a significant increase in cases thanks to the introduction of expanded newborn metabolic screening<\/strong>, and to date, there are an estimated 200 cases in Italy. <\/p>\n

\"logoThe Association wants to convey the strengths and hopes of patients and their families to support scientific research and every initiative aimed at improving the knowledge, diagnosis and treatment of methylmalonic acidemia with homocystinuria cblC, to safeguard the rights of patients, to promote their social integration and improve the quality of life of both patients and their families.<\/p>\n

The above aims can be pursued through a wide range of activities, including the following:[\/vc_column_text][\/vc_column_inner][\/vc_row_inner]

\n
    \n
  • promoting and supporting research activities and specific projects singled out with the support of the Scientific Committee of the Association;<\/li>\n
  • raising awareness and informing the public on subject matters related to its aims and promoting a greater knowledge of methylmalonic acidemia with homocystinuria cblC;<\/li>\n
  • urging political authorities to adopt appropriate measures to improve the prevention, diagnosis and treatment of the disease;<\/li>\n
  • promoting, at national and international level, the exchange of information and data;<\/li>\n
  • supporting and implementing projects aimed at improving the quality of life also through the set up of a network allowing a mutual support and exchange of experiences;<\/li>\n
  • promoting the autonomy and social integration of patients, removing any discriminatory barriers;<\/li>\n
  • incentivizing the so-called “after us” policies;<\/li>\n
  • promoting fundraising initiatives finalized exclusively to support the Association’s institutional activities.<\/li>\n<\/ul>\n <\/div>[\/vc_column][\/vc_row]\n","protected":false},"excerpt":{"rendered":"

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