Overview

Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency

Status:
Active, not recruiting
Trial end date:
2022-04-01
Target enrollment:
0
Participant gender:
All
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
Accepts Healthy Volunteers?
No
Details
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Collaborators:
URC-CIC Paris Centre - Necker
URC-CIC Paris Descartes Necker Cochin
Treatments:
Allopurinol
Criteria
Inclusion Criteria:

- 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 Criteria:

- 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