Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency
Status:
Active, not recruiting
Trial end date:
2022-04-01
Target enrollment:
Participant gender:
Summary
The aim of this study is to evaluate the effectiveness of allopurinol treatment at 12 months
on the adaptive and cognitive functioning of patients with adenylosuccinate lyase deficiency
(ADSL). The psychiatric evaluation will involve the use of standardized tools prior to
initiation of treatment, and will be repeated 6 months and 12 months after the start of
treatment.
The decrease in the concentration of SAICAR and S-Ado metabolites, which are markers of
adenylosuccinate lyase (ADSL) deficiency, will also be quantified.
Similarly, the efficacy of allopurinol on epileptic seizures for epileptic patients and on
electrocardiogram abnormalities will be evaluated secondarily
Phase:
Phase 2
Details
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Collaborators:
URC-CIC Paris Centre - Necker URC-CIC Paris Descartes Necker Cochin