patient with adenulosuccinate lyase deficiency MedDRA version: 20.1 Level: PT Classification code 10062018 Term: Inborn error of metabolism System Organ Class: 10010331 - Congenital, familial and genetic disorders
Conditions
Interventions
Trade Name: Zyloric 100 mg
Product Name: Zyloric 100 mg
Pharmaceutical Form: Tablet
INN or Proposed INN: allopurinol
Other descriptive name: allopurinol
Concentration unit: mg milligram(s)
Concentrati
Sponsors
ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS (AP-HP)
Eligibility
Sex/Gender
All
Inclusion criteria
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
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Evaluation of the 12-month efficacy of allopurinol treatment on adaptive and cognitive functioning in patients with adenylosuccinate lyase deficiency (ADSL);Secondary Objective: -Evaluation of allopurinol efficacy on adaptive functioning and attention at 6 and 12 months, on cognitive functioning and autistic symptoms at 6 and 12 months. -Quantify the decrease in the concentration of SAICAR and S-Ado metabolites, markers of adenylosuccinate lyase (ADSL) deficiency. -Evaluation of the efficacy of allopurinol on seizures in epileptic patients and on EEG abnormalities.;Primary end point(s): Clinical Criterion: Adaptive functional improvement measured by the total composite score on the Vineland II scale. A semi-structured interview by the Vineland II scale at inclusion (M0) and M12. ;Timepoint(s) of evaluation of this end point: 12 month | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): Clinical criteria: Measurement of clinical progression using standardized tools for developmental and cognitive assessment, assessment of autistic symptoms, behavioural disorders and adaptive functioning at 0, 6 and 12 months according to tests: - Autism Diagnostic Interview (ADI-R), and Autism Diagnostic Observation Schedule (ADOS) at M0 and M12 - Vineland II scale in different subdomains at M0, M6 and M12 - Psycho-Educational Profile (PEP-3) or Wechsler tests at M0 and M12 - Conners scales (parent and teacher version) and the Aberrant Behaviour Checklist (ABC) at M0, M6 and M12 Biochemical criteria: Quantification of SAICAr and S-Ado urinary and plasma metabolites before (M0) and during treatment with M3, M6 and M12. Criteria for improving epilepsy: Evaluation of the number of seizures, anti-epileptic treatments and electroencephalogram (EEG) tracings for epileptic patients at M0, M6 and M12 ;Timepoint(s) of evaluation of this end point: 12 month | — |
Countries
France
Contacts
Public ContactDRCI Hôpital St Louis
ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS (AP-HP)
Outcome results
None listed