by Causes and Genetics of DMD
Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by the lack of dystrophin, a protein that helps keep muscle cells intact. The gene that contains instructions for making dystrophin is located on the X chromosome, so DMD mainly affects boys since they only have one X chromosome.
Girls can be carriers of Duchenne Muscular Dystrophy Treatment if they inherit an affected gene from their fathers, but they generally do not experience full symptoms since girls have a backup copy of the gene on their other X chromosome. In about two-thirds of cases, DMD is inherited and results from new mutations in the DMD gene, while one-third of cases occur in families with no history of the condition.
New Duchenne Muscular Dystrophy Treatment Targeting the Root Cause
Significant progress is being made in developing treatments that target the underlying cause of DMD rather than just managing symptoms. One promising approach is exon skipping, a form of antisense oligonucleotide therapy. These drugs are designed to bind to specific parts of DMD pre-messenger RNA and alter splicing so that coding sections called exons are skipped over during messenger RNA formation.
Skipping certain exons allows for a somewhat functional version of the dystrophin protein to be made. Several exon-skipping drugs are in clinical trials, with one called Vyondys 53 recently receiving FDA approval for patients with a confirmed mutation. Results so far have shown increases in dystrophin levels and stabilization of motor function in treated patients. However, this treatment only addresses certain mutations and may not benefit all boys with DMD.
Gene Therapy Approaches on the Horizon
Another strategy is gene therapy, which aims to supplement or replace the missing dystrophin gene. One promising approach uses an engineered virus to insert a working copy of the DMD gene into muscle cell DNA. Early clinical trials have found this therapy to be safe and well-tolerated in patients, and additional studies are ongoing to evaluate long-term efficacy. Challenges for gene therapy include targeting enough muscle cells throughout the body.
Scientists are also exploring using modified stem cells to deliver dystrophin-coding genes. In animal studies, transplanted stem cells have shown evidence of migrating to muscles and expressing dystrophin protein. Researchers hope within the next 5-10 years, gene and stem cell therapies may provide longer-term treatments for DMD beyond management of existing symptoms.
Managing Symptoms in Current Treatment
While root cause therapies are actively being developed, current standard-of-care treatment focuses on managing disease symptoms and slowing progression. Corticosteroids like prednisone are commonly prescribed to reduce inflammation and strengthen muscles. Regular physical and occupational therapy helps maintain muscle strength and range of motion as long as possible.
Bracing and surgery may be used for bone and joint issues. Other supportive care includes monitoring for scoliosis, lung infections, cardiac problems, and orthopedic complications as they arise. Additional medications, diet changes, and other strategies aim to minimize side effects and optimize quality of life for DMD patients at different stages of the disease.
A Brighter Future Amid Progress
Considerable advances have unfolded over the past decade for treating DMD. While there is still no cure available, the development of exon-skipping drugs and gene/cell therapies offer opportunities to more directly address the lack of dystrophin. With continued research progress and clinical trials, scientists hope that within the next 10-15 years, most DMD patients may benefit from the new generation of cause-targeting treatments. This would transform DMD from a fatal childhood disease to a manageable chronic condition.
The strides already made in duchenne muscular dystrophy treatment have significantly extended lives and improved quality of life for many patients. With ongoing research efforts and new therapies on the horizon, there is hope that patients born today and in the future with DMD may live even healthier lives well into adulthood. Patients, their families, and the research community have made tremendous strides, but more work remains to develop therapies that can reach all those affected by this challenging disease. Continued support and participation in clinical studies will help accelerate progress.
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1. Source: Coherent Market Insights, Public Source, Desk Research
2. We have leveraged AI tools to mine information and compile it.
