What is Duchenne?
(Pronounced “Du shen”)

Duchenne is the most common fatal, genetic childhood disorder, which affects approximately 1 out of every 3,500 boys each year worldwide. It currently has no cure. Diagnosis occurs around 3 – 5 years of age, usually the first sign is muscle weakness and large calf muscles.

The Duchenne gene is found on the X- chromosome and occurs mostly in boys which progressively degenerates all their muscles over time including the heart and the lungs. It is carried through the mother and often times is a spontaneous mutation and does not run in the family. Duchenne does not discriminate and occurs within any racial, ethnic or economic background.

Facts:

• Duchenne Boys make little or no Dystrophin protein which is responsible for muscle strength and function.
• Most Duchenne boys are in a wheelchair between 10-12 years old.
• Duchenne is associated with respiratory failure, heart failure, and debilitating orthopedic complications.
• Most Duchenne boys don’t live past their late twenties.
• There has never been a survivor
• Many of the vital needs of Duchenne boys and their families are not covered by health insurance such as: Power wheelchairs, specialty scooters, night splints for their legs, specialized physical therapist, in-home needs for adaptability such as ramps and stair lift, as well as a handicap accessible van.

Current Treatments:

• In September of 2016, the first ever drug for Duchenne was approved in the U.S.  by Sarepta Therapeutics.  This exon-skipping drug will help 13% of the DMD Population.  The circumstances of the approval at the FDA were highly unusual, and included sharp internal protests that were ultimately overturned.
• Steroids is the only therapeutic drug prescribed for 100% of Duchenne genetic mutations in order to provide strength and help to slow the progression of the disease.  It is no way a cure, and has many long-term side effects.
• In February 2017, the steroid drug called Emflaza was approved in the U.S., so parents no longer have to order this superior steroid to prednisone, from the U.K.  
• Daily stretching by the caregivers and the use of braces at night on their legs, is a necessity for boys with Duchenne.
• Some boys need surgery to release the tight muscle in their leg as well as spinal surgery in their early teens.
• For the first time, there are numerous clinical trials taking place with promising therapeutic treatments for Duchenne including the ground-breaking gene therapy trials.
• Over 42 biotech and pharmaceuticals have aligned with the Duchenne community in advancing efforts towards therapies to treat Duchenne.

A Ray of Hope:

For the first time in history, there are treatment drugs in the pipeline and clinical trials are happening. Duchenne will not be cured with one therapeutic approach. It will be a cocktail of treatments to dramatically slow the progression of the disease in hopes of making it a chronic illness. 

1. Exon-Skipping: Exon skipping is a way to help make the genetic code readable again, allowing the body to make a shorter form of dystrophin that still works but is mutation specific. Clinical trials are on-going for two different exon-skipping drugs for the most common mutations which is skipping Exon 51 which is around 13% of the DMD population.
2. Gene Therapy: Gene therapy approaches offer the possibility of delivering a functional copy of the dystrophin gene to muscle cells where it could restore production of the dystrophin protein.
3. Dystrophin replacement – Duchenne muscular dystrophy is caused by mutations in the dystrophin gene which contains the instructions for making the dystrophin protein- an important component of the structure of muscle. It is thought that another protein called utrophin may be able to compensate for the lack of dystrophin in boys with Duchenne muscular dystrophy since both proteins are structurally similar and appear to have very similar functions.

For more information on Duchenne Muscular Dystrophy please go to:

• http://www.duchenneandyou.com
• www.parentprojectmd.org
• www.cureduchenne.org