Status:
COMPLETED
Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Collaborating Sponsors:
URC-CIC Paris Descartes Necker Cochin
Conditions:
Adenylosuccinate Lyase Deficiency
Eligibility:
All Genders
18+ years
Phase:
PHASE2
Brief 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 ps...
Detailed Description
Adenylosuccinate lyase deficiency (ADSL) is a rare disorder of purine metabolism whose symptoms are mental retardation, autistic disorders, epilepsy, related to the accumulation of succinylpurines: su...
Eligibility Criteria
Inclusion
- Child (minimum age 18 months) or adult with adenylosuccinate lyase; deficiency (ADSL) confirmed by quantification of SAICAr and S-Ado urinary;
- Girls / women of childbearing age must:
- have a negative pregnancy test;
- agree to use a reliable method of contraception from the baseline visit to the last dose of study treatment
- Consent of the patient, his parents or his legal representative;
- Beneficiary of social security (affiliated or entitled).
Exclusion
- Refusal of the child, his parents or the patient or his representative;
- Allergy known to allopurinol or to one of the constituents of the product (lactose in particular);
- Patients treated with Antipurines (azathioprine, mercaptopurine);
- Patients treated with vidarabine, cytotoxic drugs (eg cyclophosphamide, doxorubicin, bleomycin, procarbazine, alkyl halides), ciclosporin, or didanosine
- Renal failure characterized by creatinine clearance \<80 ml/mn
- Hepatic insufficiency
- Medullary insufficiency but possibly serious
- Breastfeeding
- Pregnancy or wishing to conceive during the study period
Key Trial Info
Start Date :
October 14 2019
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
June 17 2022
Estimated Enrollment :
8 Patients enrolled
Trial Details
Trial ID
NCT03776656
Start Date
October 14 2019
End Date
June 17 2022
Last Update
October 12 2022
Active Locations (2)
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1
LA PITIE-SALPETRIERE Hospital, AP-HP
Paris, France, 75013
2
Department of Pediatry. Reference centre of Hereditary diseases of the metabolism of child and adult. Necker - Enfants malades Hospital
Paris, France, 75015