Drug discovery
22
drugs
With orphan designations
Overview
Niemann-Pick disease type C (NPC) is a rare, autosomal recessive lysosomal storage disorder caused by NPC1 or NPC2 gene mutations, disrupting intracellular cholesterol and lipid transport. This leads to progressive neurovisceral accumulation, resulting in hepatosplenomegaly, vertical supranuclear gaze palsy, cerebellar ataxia, dystonia, cognitive decline, and psychiatric manifestations. Diagnosis spans from infancy to adulthood, with variable progression and fatal neurodegenerative outcomes [1][5][6][13][16].
Therapies
Miglustat: Reduces glycosphingolipid synthesis, slowing neurological progression [1][7][19].
2-hydroxypropyl-β-cyclodextrin (HPβ-CD): Investigational therapy showing extended survival in trials [3][7][19].
Arimoclomol: Recently FDA-approved, enhancing heat shock proteins to mitigate protein misfolding [15][19].
Supportive care (e.g., multidisciplinary symptom management, seizure control) [1][5][9].
Categories: rare genetic diseases, rare inborn errors of metabolism, rare neurological diseases, rare ophthalmic disorders, rare respiratory diseases, rare transplant-related disorders
Drug Discovery Landscape
Drug | Therapy type | Regulator | Orphan designation | Approval | Sponsor |
|---|---|---|---|---|---|
cholesteryl oleate | other | FDA | 2024-10-28 | — | Meizon Innovation Pty Ltd. |
AAV9-hNPC1 is an Adeno-Associated Virus 9 (AAV9) vector expressing a human cDNA encoding Niemann-Pick C1 (NPC1), under control of the Elongation Factor 1 alpha Short (EF1S) promoter | gene therapies | FDA | 2024-08-23 | — | National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH) |
Adeno-associated viral vector serotype 9 containing the human NPC1 gene | gene therapies | EMA | 2023-10-13 | — | UCL Research Limited |
Adeno-associated viral vector serotype 9 containing the human NPC1 gene | gene therapies | FDA | 2023-09-06 | — | Bloomsbury Genetic Therapies Ltd. |
biphenyl-substituted L-ido configured deoxynojirimycin derivative | small molecules | FDA | 2022-03-07 | — | Azafaros BV |
levacetylleucine [Aqneursa] | small molecules | FDA | 2021-09-08 | 2024-09-24 | IntraBio Inc. |
Miglustat | small molecules | FDA | 2021-02-02 | — | Edenbridge Pharmaceuticals LLC |
Ursodeoxycholic acid | small molecules | FDA | 2018-04-26 | — | IntraBio Inc. |
N-acetyl-DL-leucine | small molecules | FDA | 2018-02-22 | — | IntraBio Inc. |
Ursodeoxycholic acid | small molecules | EMA | 2017-05-22 | — | IntraBio Ireland Ltd |
Acetylleucine [Aqneursa] | small molecules | EMA | 2017-03-20 | 2026-01-20 | IntraBio Ireland Ltd |
arimoclomol [Miplyffa] | small molecules | FDA | 2015-01-13 | 2024-09-20 | Zevra Denmark A/S |
Arimoclomol citrate | small molecules | EMA | 2014-11-19 | — | Zevra Denmark A/S |
allopregnanolone | small molecules | FDA | 2013-07-12 | — | La Jolla Pharmaceutical Company, Inc. |
2-hydroxypropyl-ß-cyclodextrin | small molecules | EMA | 2013-04-26 | — | Eliquent Life Sciences Limited |
Escherichia coli heat-shock protein 70 | proteins | EMA | 2013-03-12 | — | Orphazyme A/S |
2-hydroxypropyl-B-cyclodextrin | small molecules | FDA | 2013-02-18 | — | Mandos LLC |
Hydroxy-propyl-beta-cyclodextrin | small molecules | EMA | 2011-08-30 | — | Boyd Consultants Limited |
Hydroxy-Propyl-Beta-Cyclodextrin | small molecules | FDA | 2010-05-17 | — | Cyclo Therapeutics, Inc. |
miglustat | small molecules | FDA | 2008-11-12 | — | Actelion Pharmaceuticals Ltd |
Miglustat [Zavesca] | small molecules | EMA | 2006-02-16 | — | [INACTIVE] Actelion Registration Limited |
Recombinant human acid sphingomyelinase [Xenpozyme] | proteins | EMA | 2001-09-19 | 2022-06-27 | Sanofi B.V. |