Duchenne Muscular Dystrophy (DMD)
About
DMD is caused by mutations in the DMD gene that lead to a complete deletion of dystrophin and is the most common neuromuscular disease in children. The incidence rate is about 1 in 3,500 male infants. Core dilemmas: ① Once muscle tissue is replaced by fiber fat, it cannot be regenerated;② glucocorticoids can delay the disease but have significant side effects;③ Although gene therapy (Elevidys) has been approved, it is suitable for limited populations and long-term efficacy remains to be observed.
Features & Symptoms
- X-linked recessive hereditary
- progressive muscular atrophy
- 3-5 Symptoms appear at the age of
- Death from respiratory/heart failure around the age of 20
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| Delandistrogene moxeparvovec（Elevidys） | The AAVrh74 vector delivers the miniature dystrophin gene and will be approved by the FDA for accelerated use in DMD patients aged 4-5 in 2023. | FDA批准 | $3M - $3.5M/次（一次性） |
| Exon skipping therapy | Antisense oligonucleotide drugs such as Exondys51, Vyondys53, and Amondys45 are suitable for patients with specific exon skipping mutations. | FDA批准 | $900K - $1.2M/年 |
| Stem cell muscle regeneration | Transplantation of muscle-derived stem cells or iPSC-derived muscle precursor cells is currently in early clinical trials. | Phase I/II | $300K - $800K/疗程 |
Prognosis
Those without intervention die before the age of 20, and modern management can be extended to 30-40 years old.
Additional Notes
Notes: Genetic testing recommendations: It is recommended to detect DMD gene deletions/duplications/point mutations, and exon 51, 53 and 45 skipping therapy covers approximately 13%, 8% and 8% of patients respectively; Treatment window period: Gene therapy and exon skipping should be initiated as soon as possible before fibrosis is severe, and it is recommended to start before age 6; Cardiac monitoring: Cardiomyopathy is almost inevitable in patients with DMD, so it is recommended to perform annual cardiac ultrasound and electrocardiogram examinations, and ACEI/ARB should be initiated after the age of 10; glucocorticoids: Prednisone or defcote can delay muscle strength decline and loss of walking ability and is currently the standard treatment; Bone management: Regular bone mineral density examinations to prevent fractures and scoliosis. Exclusive service commitment: The platform will allocate a dedicated medical team to each patient to assist in dismantling and properly deploying the following precautions throughout the process. When cross-state and cross-border diagnosis and treatment projects or drugs are involved, the platform will make overall arrangements for the entire docking; for disabled and semi-disabled patient groups, the platform will provide rush-free alternative solutions (including remote consultation, door-to-door sampling, direct drug delivery in the cold chain, etc.), to ensure that patients can get the same high-quality diagnosis and treatment resources without having to travel in person.; Study phase: FDA approval. Prognosis: Those without intervention die before the age of 20, and modern management can be extended to 30-40 years old.
Frequently Asked Questions
What is Duchenne Muscular Dystrophy (DMD)?
DMD is caused by mutations in the DMD gene that lead to a complete deletion of dystrophin and is the most common neuromuscular disease in children. The incidence rate is about 1 in 3,500 male infants. Core dilemmas: ① Once muscle tissue is replaced by fiber fat, it cannot be regenerated;② glucocorticoids can delay the disease but have significant side effects;③ Although gene therapy (Elevidys) has been approved, it is suitable for limited populations and long-term efficacy remains to be observed.
What are the symptoms of Duchenne Muscular Dystrophy (DMD)?
X-linked recessive hereditary,progressive muscular atrophy,3-5 Symptoms appear at the age of,Death from respiratory/heart failure around the age of 20
How is Duchenne Muscular Dystrophy (DMD) treated?
Delandistrogene moxeparvovec（Elevidys）: The AAVrh74 vector delivers the miniature dystrophin gene and will be approved by the FDA for accelerated use in DMD patients aged 4-5 in 2023.; Exon skipping therapy: Antisense oligonucleotide drugs such as Exondys51, Vyondys53, and Amondys45 are suitable for patients with specific exon skipping mutations.; Stem cell muscle regeneration: Transplantation of muscle-derived stem cells or iPSC-derived muscle precursor cells is currently in early clinical trials.
What is the prognosis for Duchenne Muscular Dystrophy (DMD)?
Those without intervention die before the age of 20, and modern management can be extended to 30-40 years old.