Natural History Study of Subjects Diagnosed With AADC Deficiency
Research type
Research Study
Full title
A two-part, international, real-world, observational registry of participants diagnosed with Aromatic L-Amino Acid Decarboxylase deficiency (AADC-d) with or without treatment with eladocagene exuparvovec
IRAS ID
294822
Contact name
Lucinda Carr
Contact email
Sponsor organisation
PTC Therapeutics, Inc.
Duration of Study in the UK
6 years, 7 months, 1 days
Research summary
Aromatic L-Amino Acid Decarboxylase (AADC) deficiency is a rare inborn error of neurotransmitter biosynthesis, resulting from pathogenic mutations in the dopa decarboxylase gene (DDC) encoding for the AADC enzyme. Lack of this enzyme leads to a severe combined deficiency of dopamine, serotonin, and other catecholamines, giving rise to clinical symptoms that include hypotonia, movement disorders, severe neurologic dysfunction or failure to achieve any developmental milestones (full head control, sit, stand and walk), among others.
Currently available therapies intend to treat the disease symptoms but the majority of patients do not respond to these treatments as they cannot replace or increase dopamine production in the brain to levels that would allow the improvement of motor function.
The main objective of this study is to describe the natural history of AADC deficiency in subjects on standard of care. Because this disease is rare (prevalence of 1:32,000), there is limited information about its clinical presentation, prognostic factors, treatment patterns and utilisation of healthcare resources. By involving sites who manage AADC deficiency from different regions of the world (US, EU, Brazil and Israel), reflecting different medical practices and diverse patient populations, this observational registry is expected to provide a deeper and broader knowledge about the natural history and management of this condition.REC name
Wales REC 5
REC reference
21/WA/0163
Date of REC Opinion
28 May 2021
REC opinion
Favourable Opinion