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Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency

NCT03776656 · Status: COMPLETED · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 8

Last updated 2026-03-04

No results posted yet for this study

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

Conditions

  • Adenylosuccinate Lyase Deficiency

Interventions

DRUG

Allopurinol

Daily oral administration

Sponsors & Collaborators

  • URC-CIC Paris Descartes Necker Cochin

    collaborator OTHER

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Pascale De LONLAY, MD, PhD · Assistance Publique - Hôpitaux de Paris

  • Irène CEBALLOS-PICOT, MD, PhD · Assistance Publique - Hôpitaux de Paris

  • Laurence ROBEL-GALLI, MD · Assistance Publique - Hôpitaux de Paris

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Months
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-10-14
Primary Completion
2022-06-17
Completion
2022-06-17

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03776656 on ClinicalTrials.gov