Drug discovery
35
drugs
With orphan designations
Overview
Rett syndrome is a rare X-linked neurodevelopmental disorder caused by MECP2 gene mutations, characterized by progressive loss of motor skills, communication abilities, and hand stereotypies after initial normal development (6-18 months). Hallmark features include seizures, breathing irregularities, scoliosis, and autonomic dysfunction. Diagnosis is clinical with genetic confirmation. While incurable, multidisciplinary care focuses on symptom management and quality of life optimization [1][11][16].
Categories: rare genetic diseases, rare neurological diseases
Drug Discovery Landscape
Drug | Therapy type | Regulator | Orphan designation | Approval | Sponsor |
|---|---|---|---|---|---|
Fenfluramine hydrochloride | small molecules | EMA | 2025-10-22 | — | UCB Pharma |
2-[[Hydroxy[(R)-2-[((5Z,8Z,11Z,14Z)-eicosa-5,8,11,14-tetraenoyl)oxy]-3-(octadecyloxy)propoxy]phosphoryl]oxy]ethan-1-amine | small molecules | EMA | 2025-06-20 | — | 3R Pharma Consulting GmbH |
Extract from Cannabis flower, containing high levels of cannabidiolic acid and <0.3% of tetrahydrocannabinol, Extraction solvent: olive oil, virgin | small molecules | EMA | 2025-03-25 | — | Granzer Regulatory Consulting & Services GmbH |
CBDA dominant extract of Cannabis sativa / Low (<0.3% w/w) delta-9-tetrahydrocannabinolic acid (THC-A) and delta 9-tetrahydrocannabinol (THC) extract of Cannabis sativa with major cannabinoid constituent cannabidiolic acid (CBD-A) | small molecules | FDA | 2024-11-25 | — | Neurotech International Limited |
vorinostat | small molecules | FDA | 2024-05-24 | — | Unravel Biosciences, Inc. |
Self-complementary Adeno-Associated Virus 9 containing human methyl-CpG binding protein 2 | gene therapies | FDA | 2024-03-11 | — | Genecombio Ltd. |
Adeno-associated viral vector serotype 9 containing the human MECP2 gene, an intron encoding a miRNA generating sequence, and complementary miRNA binding sites | gene therapies | EMA | 2024-01-12 | — | Eusme Limited |
1-O-octadecyl-2-arachidonoyl-sn-glycerol-3-phosphoethanolamine | small molecules | FDA | 2023-03-29 | — | Neurocores Inc. |
Recombinant serotype 9 adeno-associated virus (AAV) encoding an intron encoding a miRNA generating sequence, complementary miRNA binding sites and a full-length human methyl cytosine binding protein 2 (MECP2) | gene therapies | FDA | 2023-02-27 | — | Neurogene Inc. |
Ketamine | small molecules | FDA | 2023-02-01 | — | PharmaTher Inc. |
Methyl(R)-4-((3S,5R,7R,8R,9S,10S,13R,14S,17R)-7-hydroxy-10,13-dimethyl-3-((4-((pyridin-3-ylmethyl)amino)butyl)amino)hexadecahydro-1H-cyclopenta[a]phenanthren-17-yl)pentanoate | small molecules | EMA | 2022-10-11 | — | Maxia Strategies-Europe Limited |
methyl (R)-4-((3S,5R,7R,8R,9S,10S,13R,14S,17R)-7-hydroxy-10,13-dimethyl-3-((4-((pyridin-3- ylmethyl)amino)butyl)amino)hexadecahydro-1H-cyclopenta[a]phenanthren-17-yl)pentanoate | small molecules | FDA | 2022-04-19 | — | DepYmed, Inc. |
Adeno-associated viral vector serotype 9 containing the human MECP2 gene | gene therapies | EMA | 2021-08-20 | — | Pharma Gateway AB |
Adeno-associated virus serotype 9 expressing the cDNA for human MECP2 | gene therapies | EMA | 2021-05-20 | — | [INACTIVE] Novartis Gene Therapies EU Limited |
recombinant serotype 9 adeno-associated virus encoding a codon-optimized human MECP2 gene | gene therapies | FDA | 2020-10-07 | — | Taysha Gene Therapies |
1-(2,2-diphenyltetrahydrofuran-3-yl)-N,N-dimethylmethanamine hydrochloride | small molecules | EMA | 2019-08-21 | — | Anavex Germany GmbH |
a non-replicating, recombinant adeno-associated virus serotype 9 (AAV9) containing the human Methyl CpG Binding Protein 2B (MECP2B) cDNA under the control of a segment of the murine MECP2 promoter. | gene therapies | FDA | 2019-04-17 | — | Novartis Institute for BioMedical Research, Inc. |
Mercaptamine-pantetheine disulfide | small molecules | EMA | 2019-01-11 | — | Thiogenesis Therapeutics S.A.R.L |
tianeptine | small molecules | FDA | 2018-03-08 | — | AMO Pharma Ltd. |
Cannabidivarin | small molecules | EMA | 2017-10-16 | — | Jazz Pharmaceuticals Ireland Limited |
[(S)-1-(L-valyl)-N_((S)-1-phenyl-2-(pyridin-2-yl)ethyl)pyrrolidine-2-carboxamide fumarate] | small molecules | FDA | 2017-06-22 | — | Biohaven Pharmaceutical Holding Company, Ltd. |
cannabidivarin | small molecules | FDA | 2016-11-30 | — | Jazz Pharmaceuticals Research UK Limited |
6'-(R)-Methyl-5-O-(5-amino-5,6-dideoxy-a-L-talofuranosyl)- paromamine sulfate | small molecules | FDA | 2016-11-03 | — | Eloxx Pharmaceuticals, Ltd. |
(2,2-diphenyl-tetrahydro-furan-3-yl-methyl)-dimethylamine hydrochloride | small molecules | FDA | 2016-05-18 | — | Anavex Life Sciences Corporation |
mecasermin, recombinant human insulin-like growth factor-1 | proteins | FDA | 2015-09-21 | — | Keck Graduate Institute of Applied Life Sciences |
Glycyl-L-2-methylprolyl-L-glutamic acid | small molecules | EMA | 2015-08-10 | — | Acadia Pharmaceuticals (Netherlands) B.V. |
Sarizotan hydrochloride | small molecules | EMA | 2015-07-28 | — | Newron Pharmaceuticals SpA |
sarizotan | small molecules | FDA | 2015-07-07 | — | Newron Pharmaceuticals US, Inc. |
trofinetide [Daybue Stix] | peptides | FDA | 2015-02-11 | 2025-12-11 | ACADIA Pharmaceuticals Inc. |
trofinetide [Daybue] | small molecules | FDA | 2015-02-11 | 2023-03-10 | ACADIA Pharmaceuticals Inc. |
vatiquinone | small molecules | FDA | 2014-11-17 | — | PTC Therapeutics, Inc. |
3-Chloro-4-fluorophenyl-[4-fluoro-4-{[(5-methylpyrimidin-2-ylmethyl) amino]methyl}piperidin-1-yl]methanone | small molecules | EMA | 2014-02-19 | — | Neurolixis SAS |
3-chloro-4-fluorophenyl-[4-fluoro-4-[[(5-methylpyrimidin-2-ylmethyl)amino]methyl]piperidin-1yl]methanone | small molecules | FDA | 2013-10-25 | — | Neurolixis, Inc. |
acetyl-l-carnitine (ALC) | small molecules | FDA | 2011-03-18 | — | Leadiant Biosciences, Inc. |
Desipramine hydrochloride | small molecules | EMA | 2009-06-12 | — | [INACTIVE] Orphelia Pharma |