Sulfamethoxazole for the Treatment of Primary PREPL Deficiency

• Status: Unknown status
• Trial end date: 2016-10-01
• Target enrollment: 0
• Participant gender: All

Summary

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

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Universitair Ziekenhuis Brussel
• Collaborators: Katholieke Universiteit Leuven; KU Leuven
• Treatments: Sulfamethoxazole

Criteria

Inclusion Criteria:

• patients with molecular confirmation of primary PREPL deficiency

• who are able to follow the study protocol (for the primary endpoint)

• who have given written informed consent

Exclusion Criteria:

• age<2m

• women of child-bearing age unless using a reliable method for contraception and not pregnant at study entrance

• additional diagnosis with influence on muscle force

• not able to follow the study protocol (for the primary endpoint)

• history of sulfonamide hypersensitivity

• diminished renal function based on serum creatinine

• transaminases higher than 3 times the upper limit of normal

• for the pupillometry: eye pathology with the exception of refractive errors, drugs with influence on the pupillary light reflex