GENE THERAPY: Experimental treatment a success, family seeks to raise awareness

Sivertson remarked. “While the future is uncertain with a child living with a disease like this, we concentrate on what is within our control: the here and now. Brecken is a happy, smart, precocious, about-to-be fourth grader. His resiliency is unwavering.

It is inspiring to see that as a parent.” boys with Duchenne must be told their sons do not have access to this therapy and must continue to wait. Time is not on their side,” commented the Mahtomedi mom. “Each day that passes, these boys’ muscles continue to deteriorate. Their sons continue to lose function that they will not get back.” Sivertson said the family is now turning their focus to “paying it forward” on the advocacy front. life-changing opportunity for our son,” she shared. “All boys deserve this opportunity, so we are starting the Brecken Roy Kinney Foundation to find a cure.”

Duchenne is the most common type of muscular dystrophy in children. A genetic disease, it is passed on by the mother, who is a carrier; in less common cases, there is a spontaneous gene mutation in the offspring, causing the protein deficiency.

Brecken’s two younger siblings, Avery and Emerson, are not affected.

Raising awareness with policymakers and fundraising for research and development will be a large part of the foundation’s efforts.

FDA approves gene therapy for deadly disease

spent a lot of time traveling back and forth to Ohio. They still make the trip for checkups with the research team. The hospital is a world-renowned center for treatment of children with DMD, Sivertson noted. She credits physicians at Gillette’s Children Hospital with making the diagnosis after noticing signs of the disease early on.

Gene therapy involves a one-time administration of the missing dystrophin protein. While it isn’t a cure, Brecken’s parents are hopeful the therapy will change the trajectory of the disease.

“We remain positive,”

Well researched on the disease, Sivertson is now working to raise awareness. She testified last month before a Food and Drug Administration (FDA) advisory committee reviewing the first-ever gene therapy treatment and is thrilled to report approval has been granted (see sidebar).

There is a caveat to the approval, however. The June 22 decision limits the gene therapy to 4- and 5-year-olds until confirmatory trial results come in. Sivertson feels it’s unfortunate the government agency has delayed a broader label.

“It’s incomprehensible to think that parents of older

Attorney

Sivertson, a 2004

“We will push FDA to approve as expeditiously as possible a broad label with no restrictions once trial results are available in 8 to 12 months,” Sivertson promised. “Gene therapy uses very expensive drugs. We need to turn our attention to advocating to insurance companies and state programs to include coverage for this therapy. We also know the earlier a boy receives therapy, the better the clinical benefit to preserve muscle strength. Adding Duchenne muscular dystrophy to the newborn screening panel in Minnesota and across the country is also critical for parents to know right away so they can pursue gene therapy and other therapies that come down the line.

“It’s one prick on the heel. It’s a no brainer.” their sons, Emerson, Avery and Brecken.

CAMBRIDGE, Mass. — Sarepta Therapeutics Inc., a leader in precision genetic medicine for rare diseases, announced June 22 U.S. Food and Drug Administration (FDA) approval of Elevidys, the first gene therapy to treat Duchenne muscular dystrophy (DMD). The label is for pediatric patients 4 through 5 years of age.

The treatment addresses the root genetic cause of Duchenne — mutations in the dystrophin gene that result in lack of the protein that helps keep muscle cells intact.

The therapy was approved through the accelerated approval pathway, under which FDA may approve drugs for serious or lifethreatening diseases where there is an unmet medical need and the drug is shown to have clinical benefit.

“We have been given this

More information on DMD can be found at www. parentprojectmd.org/aboutduchenne/.

As a condition of approval, the FDA is requiring the company to complete a clinical study designed to further assess whether the therapy improves physical function and mobility in DMD patients. The agency plans to review data from the trial as quickly as possible to consider whether further action is necessary.

From press release