Sulfamethoxazole for the Treatment of Primary PREPL Deficiency
Status:
Unknown status
Trial end date:
2016-10-01
Target enrollment:
Participant gender:
Summary
The investigators will evaluate whether sulfamethoxazole, a sulfamide antibiotic, improves
the symptoms of primary PREPL deficiency (hypotonia-cystinuria syndrome and isolated PREPL
deficiency).