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Hypotonia-Cystinuria Syndrome clinical trials

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NCT ID: NCT02640443 Enrolling by invitation - Clinical trials for Isolated PREPL Deficiency

Sulfamethoxazole for the Treatment of Primary PREPL Deficiency

SPPD
Start date: October 2015
Phase: Phase 2
Study type: Interventional

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