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What is Duchenne Muscular Dystrophy?

Duchenne Muscular Dystrophy (DMD) is a rare muscular disorder characterized by progressive weakness and atrophy of the muscles.

What are the Symptoms?

Symptoms of DMD generally begin to show up during early childhood. DMD starts in the larger, more central muscle groups and progresses through the body, eventually affecting cardiac and respiratory function.

They include:

  • Weakness of the pelvic, upper leg, shoulder, and upper arm muscles

  • Disproportionately large calf muscles

  • Clumsiness and repeated falling

  • Toe walking

  • Inability to stand or sit without assistance

  • Irregular gait

  • Difficulty climbing stairs

What causes DMD?

DMD is a genetic disorder, caused by variants in the DMD gene located on the X chromosome. This gene regulates the production of dystrophin, a protein that is found on the inner side of the membrane that surrounds skeletal and cardiac muscle fibers, which helps maintain their integrity.

Who is affected?

It’s estimated that DMD affects 1 in 3,500 live male births, with onset and diagnosis generally occurring between the ages of 3–6. Because the DMD gene is located on the X chromosome, DMD typically affects boys (XY), and it is rare for girls (XX) to be diagnosed with DMD. If one X chromosome carries the faulty gene causing DMD, the other X chromosome can often compensate. However, since boys don’t have a second X chromosome to offset the effects of the faulty gene, they’re more likely to develop the disorder.

What are the treatment options?

There is currently no cure for DMD, but we are optimistic that when Mesenchymal Stem Cell Therapy is part of the standard of care for DMD, those affected will live longer lives and have a far enhanced quality of life.

How Do Stem Cells Help DMD?

Newly injected mesenchymal stem cells hone in on areas of inflammation and identify the cells in the body which lack the Dystrophin protein.

Because dystrophin is necessary to protect muscle cells, without it, muscle cells are vulnerable to atrophy as there is now a higher concentration of an enzyme that destroys the muscle cells.

At this point, the new mesenchymal stem cells repair the cells negatively impacted by the disease and allow them to produce Dystrophin which allows the body to fight back against the disease for roughly 3-4 months.

Stem Cell Therapy for Duchenne FAQs

  • No, different mutations should not make a difference, but the phenotype of each patient is valuable information in a trial to determine future or eventual research avenues.

    For several months our body does not reject these cells as our body’s immune system is unable to recognize umbilical cord MSCs as foreign. After that the body does recognize them and will eliminate them.

    A simple way to describe why individual patient’s specific genetic predisposition is not dependent on the ability for MSCs to make an impact, is that mesenchymal stem cells do not discriminate, thus, they are universally accepted by the body.

  • This will be addressed specifically in the inclusion/exclusion criteria of the trial(s).

  • This will depend on the inclusion/exclusion criteria for the particular trial. It’s common for trials to exclude people who have been subjects in prior trials.

  • It depends on the trial design . Could be that the alternative or placebo branch takes corticosteroids as the standard of care. But the answer to this question will depend on the organization of the trial.

  • This will be trial dependent.

  • The use of pharmacological agents to treat DMD has not proproduced favorable results in clinical trials. Only corticosteroids manage to delay the progression of the disease but come with many adverse effects. It may be possible to modify genetic regions responsible for the dystrophin deficiency with gene therapy, but this is still under development.

    -Rising Tide

Interested in pursuing stem cell therapy?

Our team is ready to answer your questions and help you navigate the first steps in your journey to receive stem cells