Evaluation of allopurinol treatment for autistic disorders and epilepsy in adenylosuccinate lyase deficiency (ADSL)

Phase 1

• Conditions: patient with adenulosuccinate lyase deficiency; MedDRA version: 20.1Level: PTClassification code 10062018Term: Inborn error of metabolismSystem Organ Class: 10010331 - Congenital, familial and genetic disorders; Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]

• Registration Number: EUCTR2017-002155-28-FR
• Lead Sponsor: ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS (AP-HP)

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2018-06-07
• Last Update Posted: 8 August 2022

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 8

Inclusion Criteria

-child (minimum age 18 months) or adult with adenylosuccinate lyase (ADSL) deficiency confirmed by quantification of SAICAr and urinary S-adenosine,
-consent of the patient, parents or legal representative,
-Beneficiary of social security coverage (affiliated or entitled).
Are the trial subjects under 18? yes
Number of subjects for this age range: 2
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 6
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

-refusal by the child, his parents or his representative,
-known allergy to allopurinol or to one of the constituents of the product (notably lactose),
-Patients treated with Antipurines (azathioprine, mercaptopurine).
-renal insufficiency characterized by creatine clearance < 80 mL/min/1.73m²,
-breastfeeding,
-pregnancy.

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified