Sarepta Therapeutics is recruiting DMD patients that have out-of-frame deletion mutations in dystrophin that may be treated by skipping exon 45 or exon 53 for its ESSENCE study.
Purpose of the ESSENCE Study
Sarepta is recruiting for Duchenne muscular dystrophy (DMD) patients with deletion mutations amenable to exon 45 or exon 53 skipping.
The purpose of this Phase III research study is to evaluate the safety and effectiveness of SRP-4045 and SRP-4053 in boys with DMD, who have a deletion that is potentially responsive or amenable to exon 45 or exon 53 skipping.
ESSENCE is a randomized, placebo-controlled study. Each study participant will be randomly assigned to receive either active study drug (SRP-4045 or SRP-4053, depending on his deletion type) or placebo. Placebo is made to look just like the active study drug, but it will not contain any active substance. Researchers use a placebo to see if the active study drug works and to see how safe and effective it is compared to not taking anything. This trial design is the best way to get a clear answer about the safety and effectiveness of a new drug and is usually required by regulatory authorities in the approval process for a drug.
Who may be able to participate in the ESSENCE study?
- Boys with DMD, 7 to 13 years old who can walk
- Boys having a genetic test that shows they have a deletion that may be treated by skipping exon 45 or 53*
- Boys that have been on a stable dose of corticosteroids (e.g. prednisone or deflazacort) for at least six months
- Stable lung (breathing) and heart function
Why should I consider participating in this study?
- Access to an investigational therapy
- Access to highly experienced clinicians with strong expertise in treating DMD
- Opportunity to become more familiar with what participation in a clinical study entails
- Opportunity to help others by contributing to medical research that may accelerate
Two hospitals are participating in this trial in Canada:
Alberta > Alberta Children’s Hospital
Principal Investigator: Jean Mah, MD
Contact: tiffany.haig@albertahealthservices.ca
Ontario > London Health Sciences Centre
Principal Investigator: Craig Campbell, MD
Contact: gina.bhullar@lhsc.on.ca
More trial sites: clinicaltrials.gov
What is Exon Skipping
Mutations in the dystrophin gene are one cause of DMD. Most commonly, one or more exons (a portion of a gene) are missing, and the remaining exons don’t fit together correctly. (Think of a zipper that doesn’t work properly, because teeth are missing.)
Because of this error, cells cannot make the dystrophin protein that muscles need to work properly. Without it, muscle cells become damaged and, over time, are replaced with scar tissue and fat.
To fix the broken genetic machinery, scientists are developing drugs that skip over parts that contain missing or defective exons. In this way, the machinery can produce a less imperfect dystrophin protein, which may improve muscle function in children with exon mutations.
Sarepta investigational therapies in the ESSENCE study use a technique referred to as exon skipping. Skipping a specific exon next to the mutation is intended to allow the body to make a shortened form of the dystrophin protein.
About DMD
Duchenne muscular dystrophy (DMD) is a disease that almost exclusively affects boys and whose incidence is 1 in 3,500. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls. Those affected are usually diagnosed around the age of five, but symptoms may be visible from early childhood. It is a degenerative disease of the muscles caused by a genetic mutation. The Duchenne muscular dystrophy (DMD) – for which no treatment is currently available – directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families.
Disclaimer: Choosing to participate in a study is an important personal decision. Before you participate in a study, discuss all options with your health care provider and other trusted advisors.
More about ESSENCE
Brochure: sarepta.com/Brochure.pdf
For more information, contact: trialinfo@sarepta.com Visit www.sarepta.com for updates on Sarepta’s clinical studies
ESSENCE: essencetrial.com
ESSENCE clinical trial information: clinicaltrials.gov #NCT02500381
