Several emerging therapies are significantly changing the way DMD is treated. These include stem cell therapy, stem cell mobilization therapy, and (potentially) gene editing. RaceMDR® is concentrating on intermediate DMD therapies that may be applicable now. We are in collaboration with some of the stem cell doctors who are applying current therapies.
Stem Cell Therapy
Stem cells are the building blocks of all cells in the human body. Every cell in our bodies begins as a stem cell and, through a series of genetic signaling, transform into the various cells that make up the human body. In Duchenne, a dysfunction in the stem cell process prevents some of these stem cells from transforming into effective muscle.
Stem cell transplantation offers two types of therapies: allogeneic and autologous.
Allogeneic stem cell transplants are stem cells derived from a donor via bone marrow, muscle fibers, fat tissue, and sometimes umbilical cord blood. The donor's blood must be matched to the recipient to ensure there is no rejection of the stem cells posttransplant.
Autologous stem cell transplants take the patient's own stem cells and reintroduce them into the body. This type of transplant does not pose a risk of rejection since the cells are derived from the patient. Both of these procedures have been performed in Duchenne patients, and both types of stem cells (from donors and from patients) have shown promise in the treatment of Duchenne.
For a synopsis of potential stem cell therapies, please read Rudnicki, 2016. Extensive stem cell research efforts in India at the Neurogen Brain and Spine Institute have yielded positive results. Dr. Alok Sharma, executive director of Neurogen and a global leader in stem cell therapy and Duchenne, has successfully treated over 400 Duchenne patients with stem cell therapy and over 800 patients with other dystrophies or other similar illnesses. In Ukraine, approximately 50 DMD patients were also treated with stem cell transplant therapy in clinical trials. France researchers conducted a clinical trial on stem cell transplant therapy for ten throat muscular dystrophy patients. All clinical trials showed positive results.
Stem Cell Mobilization Therapy
Along with stem cell transplantation, granulocyte-colony stimulating factor (G-CSF) has demonstrated promise as another therapeutic option for DMD. Commonly used prior to stem cell extraction, G-CSF has been shown to be therapeutic on its own as well. G-CSF therapy involves the mobilization of a patient's own stem cells via intramuscular injection of the compound without the need for a stem cell transplant. G-CSF stimulates the release of stem cells from bone marrow. In animal models, this allowed more stem cells to reach maturation, resulting in increases in skeletal muscle mass, strength, respiratory function, and more satellite cells. Japan first demonstrated the efficacy of G-CSF therapy for DMD. Poland has initiated clinical trials. Studies in the United States have long explored the safety of G-CSF for a variety of diseases. They conclude that G-CSF can be a safe and effective therapy option for both adult and pediatric use.
Gene therapy is rapidly advancing the ability to treat Duchenne at a genetic level. DMD is caused in part by a mutation of the gene which produces dystrophin, the protein responsible for building healthy muscle. Researchers in the US, Canada, and Japan have recently found a way to alter the genetic code through exon skipping in order to signal the body to produce functional dystrophin. By skipping the mutated genes, a percentage of DMD patients are able to produce the dystrophin they lack. Separate researchers have used gene-editing techniques known as CRISPR and Falon to correct the genetic errors in animal models of the disease.
For more complete explanations of the research and clinical trial basis for stem cell therapy, please visit the Duchenne Stem Cell Forum.
These therapies are real, effective, and some are available now. Please help us get these lifesaving treatments to the children who will die without them.
Granulocyte-Colony Stimulating Factor Emerging Therapy for Duchenne: Polish researchers published a new study showing highly positive results with G-CSF treatment for DMD.
Canadian Researchers Reclassify Duchenne as a Muscle Stem Cell Disease: This groundbreaking 2015 discovery explains how the understanding of the mechanism of DMD is changing, and how DMD is more closely linked to muscle stem cell missignaling than the prior understanding of the disease.
G-CSF Promotes Muscle Regeneration in Duchenne: Granulocyte-colony stimulating factor, often given prior to stem cell transplants to mobilize stem cells, is now being studied as a potential low-dose, long-term complementary therapy to stem cell therapy.
Stem Cell Therapy Shows 97% Improvement in Duchenne Patients: This flagship study from Neurogen Brain and Spine Institute, conducted by Dr. Alok Sharma, is perhaps the most extensive stem cell study yet undertaken for Duchenne. Dr. Sharma has since successfully treated over 400 DMD patients with stem cell therapy and is currently conducting another stem cell-DMD clinical trial.
Myoblast Stem Cell Therapy for Oculopharyngeal Muscular Dystrophy: French researchers studied the effects of autologous myoblast stem cell therapy on 12 OPMD patients with positive functional improvements over two years.
Cardiac Stem Cell Therapy May Heal Heart Damage in Duchenne Muscular Dystrophy: This study examines the potential role stem cell therapy has in healing damaged heart muscles in DMD.
Skeletal Muscle-Derived Stem Cell Transplants Show Promise for Duchenne: Muscle stem cells are used for DMD.