Clinical trials: Cystinuria

Hypotonia-Cystinuria Syndrome, Muscle Hypotonia

PREPL in Health and Disease

• Unknown status
• Age: Up to 40 years
• Surgery or procedure

Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients

Conditions

Hypotonia-Cystinuria Syndrome, Muscle Hypotonia, Healthy Volunteers, Dwarfism, Growth Hormone Deficiency

Trial name

PHD (NCT02263781)

Testing

Blood draw, muscle biopsy

Where

Belgium

Volunteers

125 people, healthy volunteers welcome

Sponsor

Universitaire Ziekenhuizen KU Leuven