Sulfamethoxazole treatment of primary PREPL deficiency
- Conditions
- Hypotonia-cystinuria syndrome and isolated PREPL deficiency.Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Registration Number
- EUCTR2013-005475-41-BE
- Lead Sponsor
- Z Brussel
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Authorised-recruitment may be ongoing or finished
- Sex
- All
- Target Recruitment
- Not specified
Inclusion Criteria
Diagnosis of hypotonia cystinuria syndrome or isolated PREPL deficiency by molecular genetics.
Able to be compliant with the study protocol.
Not of childbearing age (women).
Children and adults.
Are the trial subjects under 18? yes
Number of subjects for this age range: 15
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 8
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range
Exclusion Criteria
Not able to comply with the study protocol
Women of childbearing age
Concomitant neuromuscular disease
Study & Design
- Study Type
- Interventional clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method