Clinical Trial: Sulfamethoxazole for the Treatment of Primary PREPL Deficiency

Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Interventional




Official Title: Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie)

Brief Summary: The investigators will evaluate whether sulfamethoxazole, a sulfamide antibiotic, improves the symptoms of primary PREPL deficiency (hypotonia-cystinuria syndrome and isolated PREPL deficiency).