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14 Mar 2013

Congenital adrenal hyperplasia: support for a new rare disease

Illustration for article: Congenital adrenal hyperplasia: support for a new rare disease
The AFM-Telethon is providing financial support to the International Fund for research on Congenital Adrenal Hyperplasia (IFCAH), the association of parents of patients affected by this disease. The research projects could be useful for other rare diseases.

 

The AFM-Telethon is providing financial support for research on congenital adrenal hyperplasia, a genetic disease affecting nearly 3,000 people in France, including 50 new cases per year. The Association has in fact just established a partnership with International Fund for research on Congenital Adrenal Hyperplasia (IFCAH), fund initiated by parents of patients affected by this disease.

Since 2010, IFCAH  finances research on congenital adrenal hyperplasia: 250,000 euros are allocated to the yearly call for projects. As of 2013, the AFM-Telethon will add 100,000 euros to support targeted projects selected by the Scientific Council of the IFCAH.

Through this partnership, the AFM-Telethon and IFCAH will share resources to develop strategies for gene and cell therapies for congenital adrenal hyperplasia: innovative treatments that could be useful for other rare diseases.

No curative treatment exists

Congenital adrenal hyperplasia is caused by a defect in the production of adrenal hormones. In the most severe cases, it can be life threatening in infants. In children, it may cause accelerated growth and bone maturation, which may ultimately reduce final height. In adults, there are numerous complications: excess weight, predisposition to diabetes and excessive blood lipids, defective bone mineralisation, impaired fertility.

To date, hormone replacement therapy is not curative and requires careful monitoring. It only allows to limit the consequences of the disease.

For more information

Are you a researcher? Until March 25th, you can participate in IFCAH’s 3rd call for projects. The application form can be obtained at the following address cfp2013@ifcah.org. The IFCAH has already funded six research projects, two of which are being carried out in France for a total amount of 500,000 euros.