Drug discovery
9
drugs
With orphan designations
Overview
Becker muscular dystrophy (BMD) is an X-linked recessive disorder caused by mutations in the DMD gene, leading to reduced or abnormal dystrophin production. It presents with progressive proximal muscle weakness, typically emerging in childhood or adolescence, and progresses slower than Duchenne muscular dystrophy. Cardiac involvement (cardiomyopathy, arrhythmias) and respiratory decline are common, often asymptomatic initially. Diagnosis relies on elevated serum CK, genetic testing, and muscle biopsy. Management focuses on multidisciplinary care, including cardiac surveillance, glucocorticoids, and physical therapy to preserve function [1][5][6][16][17].
Burden
Mobility: Loss of ambulation typically occurs in the 30s–50s; wheelchair dependency in ~40% of cases [11][17].
Mortality: Life expectancy often reduced due to heart failure (leading cause) or respiratory complications [13][17].
Healthcare costs: Requires lifelong multidisciplinary care, cardiac devices, and adaptive equipment [6][8][16].
Therapies
Cardioprotection: ACE inhibitors/beta-blockers initiated at early echocardiogram abnormalities [1][6][13].
Symptomatic care: Glucocorticoids (e.g., prednisone) to delay muscle decline, physical therapy, orthotics, and non-invasive ventilation for respiratory support [6][8][11].
Emerging therapies: Myosin inhibitors (e.g., EDG-5506), follistatin gene therapy, and exon-skipping agents in clinical trials [3][18].
Categories: rare cardiac diseases, rare genetic diseases, rare neurological diseases, rare transplant-related disorders
Drug Discovery Landscape
Drug | Therapy type | Regulator | Orphan designation | Approval | Sponsor |
|---|---|---|---|---|---|
human allogeneic cardiosphere-derived cells | cell therapies | FDA | 2025-06-13 | — | Capricor, Inc. |
Induced pluripotent stem cells-derived myogenic progenitor cells | cell therapies | EMA | 2025-05-22 | — | Biopatents IP Consultancy |
human induced pluripotent stem cell derived myogenic progenitor cells | cell therapies | FDA | 2024-12-23 | — | IPS HEART |
Sevasemten | small molecules | EMA | 2024-03-21 | — | FGK Representative Service GmbH |
vamorolone | small molecules | FDA | 2023-12-18 | — | ReveraGen BioPharma Inc. |
Dexepicatechin | small molecules | EMA | 2020-06-26 | — | MWB Consulting |
Givinostat | small molecules | EMA | 2018-07-31 | — | Italfarmaco S.p.A. |
adeno-associated virus transgene of follistatin | gene therapies | FDA | 2012-11-19 | — | Milo Biotechnology |
Ataluren [Translarna] | small molecules | EMA | 2012-07-04 | — | PTC Therapeutics International Limited |