Drug discovery
32
drugs
With orphan designations
Overview
Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder caused by loss of paternal chromosome 15q11-q13 expression. It presents with neonatal hypotonia, feeding difficulties, and failure to thrive, progressing to hyperphagia-driven obesity, developmental delays, endocrine dysfunction (growth hormone deficiency, hypogonadism), and behavioral challenges (skin picking, temper outbursts). Management requires multidisciplinary care focusing on nutritional control, hormone replacement, and behavioral interventions [1][3][6].
Burden
Clinical: 93% develop obesity-related comorbidities (diabetes, obstructive sleep apnea) [6][13]; 44.4 average caregiver ZBI score reflecting severe burden [14]
Economic: Annual US healthcare costs ~$26,887/patient excess vs non-PWS peers [19]
Psychosocial: 60–70% exhibit obsessive-compulsive behaviors; 10–20% develop psychosis [6][17][18]
Citations embedded per formatting rules
Therapies
Growth hormone therapy: Improves lean mass, mobility, and metabolic parameters (initiated in infancy) [1][3][18]
Behavioral/environmental: Strict calorie-controlled diets (≤60% typical intake), food security protocols, cognitive behavioral therapy [1][13][18]
Multidisciplinary care: Endocrinology, nutrition, physical/occupational therapy, and psychopharmacology (e.g., SSRIs for OCD) [3][11][16]
Categories: rare developmental anomalies during embryogenesis, rare endocrine diseases, rare genetic diseases, rare gynecological and obstetric diseases, rare infertility disorders, rare neurological diseases
Drug Discovery Landscape
Drug | Therapy type | Regulator | Orphan designation | Approval | Sponsor |
|---|---|---|---|---|---|
Cannabidiol acid methyl ester | small molecules | EMA | 2024-07-25 | — | Scendea (NL) B.V. |
celastrol | small molecules | FDA | 2024-04-10 | — | ERX Pharmaceuticals, Inc. |
pitolisant | small molecules | FDA | 2024-02-12 | — | Harmony Biosciences, LLC |
5-BROMO-N-(PROP-2-YN-1-YL)-2-(1H-1,2,4-TRIAZOL-1-YL) PYRIMIDINE-4,6-DIAMINE | small molecules | FDA | 2024-01-30 | — | Palobiofarma S.L. |
5-bromo-N-(prop-2-yn-1-yl)-2-(1H-1,2,4-triazol-1-yl)pyrimidine-4,6-diamine | small molecules | EMA | 2023-11-08 | — | Palo Biofarma S.L. |
Denatonium acetate monohydrate | small molecules | FDA | 2023-06-08 | — | Aardvark Therapeutics, Inc. |
avasimibe | small molecules | FDA | 2023-05-16 | — | EFIL BioScience Inc. |
Cannabidiol acid methyl ester (CBDA-ME) | small molecules | FDA | 2023-01-03 | — | EPM Group Inc. |
Oxytocin | peptides | FDA | 2022-03-01 | — | Tonix Pharmaceuticals, Inc. |
Synthetic analogue of cyclic Glycine-Proline | small molecules | FDA | 2021-09-02 | — | Neuren Pharmaceuticals, Ltd. |
Tesofensine plus metoprolol in a fixed-dose combination | small molecules | FDA | 2021-03-02 | — | Saniona S/A |
(R)-3-(1-(2,3-dichloro-4-(pyrazin-2-yl)phenyl)-2,2,2-trifluoroethyl)-1-methyl-1-(1-methylpiperidin-4-yl)urea fumarate | small molecules | EMA | 2020-12-09 | — | Helsinn Birex Pharmaceuticals Limited |
cannabidiol | small molecules | FDA | 2020-08-21 | — | Benuvia Operations LLC |
Diazoxide choline | small molecules | EMA | 2017-11-08 | — | Soleno Therapeutics Europe Limited |
Synthetic cyclic 8 amino acid analogue of human unacylated ghrelin | small molecules | EMA | 2017-10-16 | — | Millendo Therapeutics SAS |
synthetic cyclic 8 amino acid analog of human unacylated ghrelin | small molecules | FDA | 2017-10-12 | — | Millendo Therapeutics, Inc. |
oxytocin | peptides | FDA | 2017-06-15 | — | Eric Hollander, MD |
Oleoylethanolamide | small molecules | FDA | 2017-06-08 | — | NutriForward, LLC |
D-tagatose | small molecules | FDA | 2017-01-19 | — | Biospherics.net LLC |
Setmelanotide | peptides | EMA | 2016-06-27 | — | Rhythm Pharmaceuticals Netherlands B.V. |
setmelanotide | peptides | FDA | 2015-09-21 | — | Rhythm Metabolics, Inc. |
oxytocin | peptides | FDA | 2014-11-24 | — | OT4B |
Oxytocin | peptides | EMA | 2014-07-29 | — | OT4B |
Beloranib | small molecules | EMA | 2014-07-04 | — | FGK Representative Service GmbH |
diazoxide choline [Vykat XR] | small molecules | FDA | 2014-05-13 | 2025-03-26 | Soleno Therapeutics, Inc. |
carbetocin (nasal spray) | small molecules | FDA | 2014-04-11 | — | Acadia Pharmaceuticals Inc. |
beloranib | small molecules | FDA | 2013-01-15 | — | Zafgen, Inc. |
diazoxide | small molecules | FDA | 2012-12-03 | — | Sedogen, LLC |
Carbetocin [FE992097] | small molecules | EMA | 2012-03-21 | — | Voisin Consulting Life Sciences |
Betahistine dihydrochloride | small molecules | FDA | 2007-11-08 | — | Altamira Therapeutics Inc. |
Somatropin [rDNA] [Genotropin] | proteins | FDA | 1999-07-06 | 2000-06-20 | Pharmacia & Upjohn |
Etiocholanedione | small molecules | FDA | 1996-05-07 | — | SuperGen, Inc. |