Sulfamethoxazole for the Treatment of Primary PREPL Deficiency — SPPD  

Hypotonia Cystinuria Syndrome Clinical Trial

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

Status Enrolling by invitation

Clinical Trial Summary

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

Clinical Trial Description

n/a

Study Design

Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Single Blind (Outcomes Assessor), Primary Purpose: Treatment

Related Conditions & MeSH terms

• Chromosome Deletion
• Craniofacial Abnormalities
• Cystinuria
• Hypotonia Cystinuria Syndrome
• Intellectual Disability
• Isolated PREPL Deficiency
• Mitochondrial Diseases
• Muscle Hypotonia

• NCT number: NCT02640443
• Study type: Interventional
• Source: Universitair Ziekenhuis Brussel
• Status: Enrolling by invitation
• Phase: Phase 2
• Start date: October 2015
• Completion date: October 2016