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Could a gout drug help kids with a rare brain condition?

NCT ID NCT03776656

Disease control Sponsor: Assistance Publique - Hôpitaux de Paris Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study tested the drug allopurinol in 8 children and adults with adenylosuccinate lyase deficiency (ADSL), a rare genetic disorder that can cause autism, seizures, and developmental delays. Researchers measured changes in thinking, daily skills, and seizure control over 12 months. The goal was to see if allopurinol can improve quality of life by reducing harmful metabolites and easing symptoms.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 2

Tests whether the treatment actually works, and watches for side effects, in a larger group.

Participants

8 people

The number who actually took part.

Started

Oct 2019

Finished

Jun 2022

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

18 months and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

adenylosuccinate lyase deficiency autism epilepsy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Adenylosuccinate lyase deficiency

Contacts and locations

Locations

  • Department of Pediatry. Reference centre of Hereditary diseases of the metabolism of child and adult. Necker - Enfants malades Hospital

    Paris, 75015, France

  • LA PITIE-SALPETRIERE Hospital, AP-HP

    Paris, 75013, France