Duchenne & Research

Facts about the disease, and what we're doing to help find a cure.

Diagnosis & Prognosis

Occurring in 1 out of every 5,000 boys, Duchenne is typically diagnosed between the ages of 3 and 7, with most boys requiring a wheelchair by 12. At this point in time, there is a 100% fatality rate, as there is no known cure.

Cause & Effect

Duchenne is caused by mutations in the DMD gene, which provides instructions for making dystrophin, a protein essential for maintaining the strength and integrity of muscle cells. Without functional dystrophin, muscle cells become fragile and are easily damaged during regular use. Over time, this leads to muscle deterioration and loss of function.

Kindness Over Muscular Dystrophy has funded exciting new advancements in CRISPR genetic research that have the potential of fixing faulty genetic code in a DMD kid’s muscles. This enables those damaged muscles to stop deteriorating and to function better. CRISPR is the gold standard for a cure – fix the flaw in the genetic code, and stop the muscle damage.

Gene Therapy is the next best thing to CRISPR, and Kindness Over Muscular Dystrophy has funded research that has produced ongoing clinical trials of this therapy. Kids show muscle function improvement for a couple years or so, then a leveling off, and then decline. Re-dosing would be a great solution, but the problem is that re-dosing can cause the immune system to overreact in a severe life-threatening allergic fashion. KOMD is in the process of funding re-dosing research to circumvent this issue.

A portion of the money we raise at Kindness Over Muscular Dystrophy goes to help those families who struggle with the financial burdens that a complex medical disease like Duchenne Muscular Dystrophy brings to their tables. The costs of wheelchairs, stair lifts, accessible vans, and accessible improvements to homes can be astronomical. To help offset these financial hardships, we at Kindness Over Muscular Dystrophy have granted benevolent assistance funds to the Akari Foundation, Jett Foundation, Little Hercules, Michael’s Cause, Ryan’s Quest, Tanner’s Hands and Team Joseph to distribute to families in need and we have granted benevolent assistance directly to accessibility companies on behalf of individuals.

Our funding of research and benevolent assistance would not be possible without your generosity. Because you care, Kids with Duchenne have hope for a healthier future in a more accessible world!

From the entire KOMD family, and from all of those whose lives are impacted by Duchenne...

Research

Imagine a world where genetic diseases could be reversed. We do everyday and have
funded millions of dollars of groundbreaking research! Our main focus going forward are
on these promising therapies – CRISPR, Exon Skipping and Gene Therapy.

After decades of slow progress in the fight against Duchenne, the FDA approved the first Duchenne drug ever on Sep 19, 2016. That was a big day in the fight against Duchenne. The drug, called Eteplirsen, has already proven to be a game changer for some patients, however, since Duchenne presents itself with slight variations, this drug only applies to about 13% of the Duchenne population.

Serapta Therapeutics, Pfizer and Solid Biosciences began micro dystrophin clinical trials in 2018 and today, Serapta Therapeutics has an approved drug on the market for Duchenne - Elevidys. Patients experience improvements in time to rise from a sitting position, time to climb 4 stairs, and time to walk 100 meters. These improvements are particularly impressive given the fact that in the normal course of Duchenne, the patient experiences a steady decline in these baseline functional tests. Additionally, reports indicate that patients experience an initial robust expression of the micro-dystrophin gene.

Conner was the very first patient dosed with Pfizer's micro-dystrophin gene therapy. All of his functional tests improved for a period of about 2 years, and then began to regress. We observed an initial impressive improvement in his stair climbing ability, with a decline with respect to the speed of his assent a couple of weeks later, and then a leveling off in speed. He has since experienced a slow decline in his stair walking ability, and unfortunately he is not able to navigate stairs at this time. The stair climbing speed and functional abilities decline post infusion were expected by many researchers as newly formed muscle from the natural growth process does not contain the micro-dystrophin gene therapy that was given to Conner initially. We look forward to a time when re-dosing of gene therapy may be possible.

Progress has been slow and years in the making, but alongside the approval of Elevidys, Duchenne patients now have access to exon skipping drugs for mutations affecting exons 45, 51, and 53. Unfortunately, at this time, these therapies are not an option for Conner, as his mutation is in exon 33. However, the recently approved drug Duvyzat—a breakthrough inhibitor designed to reduce inflammation and muscle damage—is available to Conner and every Duchenne patient, offering some relief.