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 range

18 Months

Sex

ALL

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

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

View on ClinicalTrials.gov More Adenylosuccinate Lyase Deficiency trials