About Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is caused by loss of expression of paternally inherited genes on chromosome 15q11-q13 due to paternal deletion (70%), maternal uniparental disomy (25%), or imprinting defects. Neonates present with severe hypotonia and feeding difficulties; during childhood, insatiable hyperphagia develops leading to severe obesity. Additional features include intellectual disability, hypogonadism, short stature, and behavioral problems including obsessive-compulsive traits.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Prader-Willi Syndrome trials.
Molecular subtype (deletion vs UPD vs imprinting defect) determines eligibility for some trials — chromosome 15 methylation analysis is required
BMI, hyperphagia rating scale scores, and metabolic panel are standard baseline eligibility measures
Carbetocin (intranasal oxytocin) and other hyperphagia-targeting trials typically require stable growth hormone therapy as background medication
Sleep study (polysomnography) documenting sleep-disordered breathing may be required or exclusionary
Patient Resources
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