Mankind Pharma and Innovent Biologics Partner to Launch Groundbreaking PD-1 Immunotherapy in India

Duchenne Muscular Dystrophy: Diagnosis, Treatment, and Emerging Therapies

Ikena Oncology and Inmagene Biopharmaceuticals Announce Merger to Form ImageneBio

Fujirebio and Eisai Partner to Advance Diagnostics for Neurodegenerative Diseases

European Commission Approves Opdivo® Plus Yervoy® for First-Line Treatment of MSI-H or dMMR mCRC

Deerfield Management to Acquire Singular Genomics for $20 Per Share in All-Cash Deal

EU Approval of Tagrisso Sets New Standard for EGFR-Mutated NSCLC Treatment

Aurobindo Pharma’s Subsidiary CuraTeQ Secures UK Approval for Bevacizumab Biosimilar

SCG Cell Therapy Partners with A*STAR BTI and NATi to Advance RNA-Based Therapeutics

Korea's National Bio Big Data Project: Advancing Precision Medicine with Macrogen and Illumina

GST Exemption Announced for Cancer Treatment Gene Therapy

AIIMS Develops Affordable CAR-T Cell Therapy for Multiple Myeloma

Sangamo Therapeutics and Astellas Collaborate on Innovative Gene Therapy for Neurological Diseases

FDA Clears IND for Arbor Biotechnologies’ ABO-101 Gene Editing Therapeutic for Primary Hyperoxaluria Type 1

Fortis Healthcare Acquires Stake in Agilus Diagnostics

Home
/
insight
/
details

Duchenne Muscular Dystrophy: Diagnosis, Treatment, and Emerging Therapies

NextEdge Admin

25 Dec 2024

2 min 55 sec

X chromosome,dystrophin gene,Sarepta Therapeutics,Gene Therapy

Duchenne muscular dystrophy (DMD) is a rare genetic disorder caused by mutations in the dystrophin gene, essential for muscle function. Without sufficient dystrophin, muscle cells weaken and deteriorate over time. DMD primarily affects males, as the dystrophin gene is located on the X chromosome. Females with one mutated copy of the gene are typically carriers but may exhibit mild symptoms. Mutations can be inherited from a carrier parent or occur spontaneously in families with no prior history.

Over 7,000 unique mutations in the dystrophin gene have been identified. Genetic testing, using blood or saliva, is critical for diagnosing DMD and identifying deletions, duplications, or small changes in the gene. Results are typically available within three weeks and are instrumental for patient care and family planning. Comprehensive testing detects mutations in 95% of cases, though additional tests may be necessary for others.

Companies like Sarepta Therapeutics, while primarily focused on developing DMD treatments such as Elevidys, also provide genetic testing resources and support through their patient assistance programs.

Conventional DMD treatments include corticosteroids like prednisone and deflazacort, which slow muscle degeneration and improve motor function. Physical therapy, assistive devices, and respiratory support also play vital roles in managing symptoms and improving quality of life.

Recent advancements in gene therapy show promise. The FDA approved Elevidys in 2023 for children aged 4–5 years, with expanded approval in 2024 for older individuals. Elevidys delivers a modified dystrophin gene via a viral vector, producing a functional, shortened version of the protein. Administered as a single intravenous dose, it stabilizes symptoms and enhances strength. However, long-term efficacy and safety require further study, with some reports of severe immune reactions.

Ongoing research and innovation offer hope for better outcomes, empowering individuals and families impacted by this debilitating disease.