CompletedPhase 2

Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency

France8 participantsStarted 2019-10-14

Plain-language 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

Who can participate

Age range18 Months

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

Measurement of adaptive functional improvement : composite total score for Vineland II adaptive behaviour Scale

Timeframe: 12 months

Trial details

NCT IDNCT03776656

SponsorAssistance Publique - Hôpitaux de Paris

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2022-06-17