History and Aims


The cblC aps, the Italian Association of Methylmalonic Acidemia with Homocystinuria cblC type, was set up in March 2017, by the initiative of some parents of children affected by such disorder, with the purposeful intention to support scientific research and every initiative aimed at improving the quality of life of patients and their families.

The founders, coming from all over Italy, knew each other on the web, often the first shelter, after a first moment of suffering and shock, for those who come across a disease with a strange and complicated name for the first time. Day by day it will become more and more familiar and written several times into the search engines, hoping to find answers to questions that none of them ever imagined having to ask and to get in contact with people facing the same problems and fears.

In February 2013, 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 involved in cblC problems 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 Gesu' Children's hospital in Rome: this event gave the chance to transform many virtual friendships into real ones.

In 2014 such “family” 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. Some years later, in March 2017, thanks to the stubbornness of five families, the cblC aps was finally set up.


To date, over 500 cases of cblC have been reported worldwide, making it the most frequent type of methylmalonic acidemia with homocystinuria, with a significant concentration in southern Europe, particularly in Italy, Spain and Portugal. With particular reference to our country, in recent years a significant increase in the number of cases has been recorded as a consequence of the introduction of enlarged neonatal metabolic screening.

The 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.

The above aims can be pursued through a wide range of activities, including the following:
  • promoting and supporting research activities and specific projects singled out with the support of the Scientific Committee of Association;
  • raising awareness and informing the public on subject matters related to its aims and promoting a greater knowledge of methylmalonic acidemia with homocystinuria cblC;
  • urging public authorities to implement all the appropriate actions to improve the prevention, diagnosis and treatment of such disorder;
  • promoting, at national and international level, the exchange of information and data;
  • implementing and supporting projects aimed at improving the quality of life also through the set up of a network allowing a mutual support and exchange of experiences;
  • promoting the autonomy and social integration of patients, removing any discriminatory barriers;
  • incentivizing the so called "after us " policies;
  • promote fundraising initiatives finalized exclusively to support the Association's institutional activities.

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