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Disease

Prader-Willi syndrome

Late-stage therapeutic development
Also known as Prader Willi syndrome, Prader-Labhart-Willi syndrome, Prader-Willi-Labhart syndrome, Willi-Prader syndrome+5 more

Prader Willi syndrome, Prader-Labhart-Willi syndrome, Prader-Willi-Labhart syndrome, Willi-Prader syndrome, PWS, Prader-Willi syndrome chromosome region, Prader-Willi-like syndrome associated with chromosome 6, obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet.

20
Clinical trials
12
Associated genes
3
Related proteins
Current focus
Growth hormone biologyOxytocin biologyTherapeutic development
Latest activity
beta

Recent clinical, regulatory, research and industry developments relating to this disease.

Approval: Omnitrope (EMA)

Regulatory2006-04-12EMA

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Moderate
Key developments
  • 2 clinical trials expected to report results, the earliest in Q4 2026.
Upcoming Milestones
Clinical Milestones8View
Results posted 1
Results expected 2
Recently completed 3
Other updates 2
Activity timeline8

Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies
Growth Hormoneapproved

Approval — Infants, children and adolescents Growth disturbance due to insufficient secretion of gr… (2006)

Clinical trials

15 sponsors · 1 new · 0 completed in the last 12 months (net -1)

The current development programme across all trial phases.

Clinical programme
20
All trials
6
Active
15
Late-stage
6
Completed
Late-stage studies

An Open-Label Study of DCCR (Diazoxide Choline) Extended-Release Tablets in Patients With Prader-Willi Syndrome

Phase 3 · Active, not recruiting · Soleno Therapeutics, Inc.

A Phase 3, Randomized, Double-blind, Placebo-controlled, Parallel-group Study of Carbetocin Nasal Spray for the Treatment of Hyperphagia in Prader-Willi Syndrome

Phase 3 · Active, not recruiting · ACADIA Pharmaceuticals Inc.

A Phase 3, Randomized, Double-Blind, Placebo-controlled, Efficacy and Safety Study of Pitolisant Followed by an Open-Label Extension in Patients With Prader-Willi Syndrome

Phase 3 · Recruiting · Harmony Biosciences Management, Inc.

The Effects of Tirzepatide in Young Adults With Prader-Willi Syndrome, Hypothalamic Obesity and General Non-Syndromic Obesity

Phase 4 · Recruiting · Grace Kim

A Phase 3, Randomized, Double-blind, Placebo-controlled Study of ARD-101 for the Treatment of Hyperphagia in Patients With Prader-Willi Syndrome

Phase 3 · Terminated · Aardvark Therapeutics, Inc.

A PHASE 3 MULTICENTER, OPEN LABEL, MULTI COHORT STUDY TO EVALUATE THE EFFICACY AND SAFETY OF SOMATROPIN IN JAPANESE PARTICIPANTS WITH PRADER-WILLI SYNDROME (PWS)

Phase 3 · Completed · Pfizer
Recently completed

A Double Blind, Placebo Controlled, Fixed-Flexible Dose Clinical Trial of Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome

Phase 4 · Completed · Maimonides Medical Center

An Open-Label, Long-Term Safety and Efficacy Evaluation of Diazoxide Choline Extended-Release Tablets in Participants With Prader-Willi Syndrome With a Double-Blind, Placebo-Controlled, Randomized Withdrawal Period

Phase 3 · Completed · Soleno Therapeutics, Inc.

Effect of Intranasal Oxytocin on Dysphagia Related to Oropharyngo-oesophageal Dysmotility in Children and Adolescents With Prader-Willi Syndrome: a Phase 2B Study

Phase 2/3 · Completed · University Hospital, Toulouse

A PHASE 3 MULTICENTER, OPEN LABEL, MULTI COHORT STUDY TO EVALUATE THE EFFICACY AND SAFETY OF SOMATROPIN IN JAPANESE PARTICIPANTS WITH PRADER-WILLI SYNDROME (PWS)

Phase 3 · Completed · Pfizer

Phase 3, Randomized, Double-Blind, Placebo-Controlled, 8-week Clinical Study to Assess the Efficacy, Safety, and Tolerability, of Intranasal Carbetocin (LV-101) in Prader-Willi Syndrome (PWS) With Long Term Follow-Up (CARE-PWS)

Phase 3 · Completed · Levo Therapeutics, Inc.

A Double-Blind, Randomized, Placebo-Controlled, Multiple-Dose, Multi-Center Safety and Efficacy Study of Co-Administration of Tesofensine/Metoprolol for 12 Weeks in Adult and Adolescent Patients With Prader-Willi Syndrome (PWS), Followed by Two Open Label 12 Weeks Extension Periods for Adolescent Patients

Phase 2 · Completed · Saniona

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals
2006emaApproval — Growth Hormone· Infants, children and adolescents Growth disturbance due to insufficient secretion of growth hormone (GH). Growth disturbance associated with Turner syndrome. Growth disturbance associated with chronic renal insufficiency. Growth disturbance (current height standard-deviation score (SDS) < -2.5 and parental adjusted SDS < -1) in short children / adolescents born small for gestational age (SGA), with a birth weight and / or length below -2 standard deviations (SDs), who failed to show catch-up growth (height velocity (HV) SDS < 0 during the last year) by four years of age or later. Prader-Willi syndrome (PWS), for improvement of growth and body composition. The diagnosis of PWS should be confirmed by appropriate genetic testing. Adults Replacement therapy in adults with pronounced growth hormone deficiency. Patients with severe growth hormone deficiency in adulthood are defined as patients with known hypothalamic pituitary pathology and at least one known deficiency of a pituitary hormone not being prolactin. These patients should undergo a single dynamic test in order to diagnose or exclude a growth hormone deficiency. In patients with childhood-onset isolated GH deficiency (no evidence of hypothalamic-pituitary disease or cranial irradiation), two dynamic tests should be recommended, except for those having low insulin-like-growth-factor-I (IGF-I) concentrations (SDS < -2) who may be considered for one test. The cut-off point of the dynamic test should be strict. source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Associated genes

12 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

MAGEL20.60GHR0.57SNRPN0.47HERC20.44OXTR0.38SNURF0.36HRH30.33MKRN30.32METAP20.28GH10.12PYY0.06NIPA20.05

Disease biology

3 matches

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Growth hormone receptorvia GHR0.57Oxytocin receptorvia OXTR0.38Histamine H3 receptorvia HRH30.33

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)

Synonyms

Prader Willi syndrome, Prader-Labhart-Willi syndrome, Prader-Willi-Labhart syndrome, Willi-Prader syndrome, PWS, Prader-Willi syndrome chromosome region, Prader-Willi-like syndrome associated with chromosome 6, obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.