Evaluation of a Treatment With Allopurinol in Adenylosuccinate Lyase Deficiency

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

Timeline

Start

2019-10-14

Primary completion

2022-06-17

Completion

2022-06-17

Publications

• Results Rousselot-Pailley B, Semeraro M, Marquant F, Robel L, Gitiaux C, Kaminska A, Mochel F, Bakouboula P, Elie C, Hennequin C, Ceballos-Picot I, Sanquer S, de Lonlay P. Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency. J Inherit Metab Dis. 2025 Nov;48(6):e70092. doi: 10.1002/jimd.70092.

Drugs

Indications