It's not eteplirsen

Betty Vertin worries that it won’t be long before she sees the progress earned by her three sons erased.

Her boys will soon get weaker as their muscles deteriorate from the effects of Duchenne muscular dystrophy, a progressive genetic disease that mainly afflicts males and will eventually rob Max, 11, Rowen, 7, and Charlie, 5, of the ability to walk, breathe and care for themselves. 

The Food and Drug Administration decided last month to refuse to review clinical data from PTC Therapeutics, the company developing the clinical trial drug that had given the Vertin family hope.

“I’m angry and I’m scared,” says Betty, 36, a homemaker from Hastings, Nebraska, who has one other son unaffected by the disease, and two daughters. “I’m afraid that this is going to be the beginning of the end. It’s terrifying.”

The FDA denied the application because trial results were considered “incomplete,” and now the drug manfucturer is appealing the decision. While her boys have been taking Translarna, the only drug shown to slow Duchenne symptoms (it is widely available in Europe), Betty and her husband Jason, a truck salesman, saw remarkable improvement, especially in Max, who was able to run, bicycle and ride a scooter while on the drug for more than two years.

“Unless something drastic happens in the next year, he will likely be in a wheelchair by his next birthday,” Betty tells PEOPLE. “It’s devastating to lose the drug that was our only hope. It was the only thing giving me more time with my children.”

In response to PEOPLE’s request for comment, a spokesperson for the FDA says they are unable to “provide details about investigational drugs or pending new drug applications.”

“The FDA recognizes the unmet medical need in Duchenne muscular dystrophy, the devastating nature of the disease for patients and their families, and the urgency to make new treatments available,” the statement continued. “We will continue to work with companies and the patient community to facilitate development and approval of safe and effective treatments for DMD. The FDA is committed to carefully considering development plans for DMD drugs at the earliest stages.”…

Hearing that their son had tested positive for the disease was devastating, but more bad news was to come. Betty noticed that Rowen, then 2, had difficulty climbing up and down from the stool he used to brush his teeth. Pregnant with Charlie at the time, Betty had him tested. The results again were positive….

When Betty learned about the Translarna clinical trial in 2014, she immediately got Max signed up. Later, when her other sons became eligible to participate, Rowen and Charlie received the medication, too.

“I knew it wasn’t a cure,” she tells PEOPLE, “but I thought that it would buy us more time. And it did. We saw some good progress.”

While in the trial, the brothers have made frequent trips to the hospital for blood draws, with the two oldest always offering encouragement to Charlie, telling him, “It’s okay — be brave, it’s not so bad.”

“They have each other, and that’s helped — they each know what the others are going through,” says Betty. “They don’t have to feel alone.”

“The family’s determination to fight this disease so that these three boys will have a brighter future and outcome is such a great inspiration,” adds the Vertins’ neuromuscular physician, Brenda Ly Wong. “Facing a death sentence for a life span of 20 years is unimaginable. Their smiles and positive spirit bring great joy to all.”

Although angry that the FDA refused to review Translarna, “We’re going to try and stay positive for our boys,” Betty says. “When I think about this rare disease, I want to picture my sweet boys growing into courageous young men. There is still hope and beauty in life and we’re going to find it.”

http://people.com/human-interest/brothers-with-rare-form-of-muscular-dystrophy-can-no-longer-take-drug-that-was-improving-their-lives/

Courtesy of my daughter

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PTC Therapeutics today announced that it received a Refuse to File letter from the U.S. Food and Drug Administration (FDA) regarding PTC’s New Drug Application (NDA) for ataluren (brand name Translarna) to treat Duchenne muscular dystrophy (DMD).

In the letter, the FDA states that the application was not sufficiently complete to permit a substantive review. PTC is reviewing the content of the letter to determine the appropriate next steps.

Ataluren is an oral protein restoration therapy for the treatment of nonsense mutation DMD. It acts by changing the way muscle cells interpret genetic information, coaxing them to produce a needed muscle protein called dystrophin despite the presence of a mutation in the dystrophin gene. The drug, which is taken by mouth, targets a particular type of genetic mutation known as a “nonsense mutation” or “premature stop codon,” which is present in about 13 percent of DMD patients. This type of mutation results in the making of a protein that is not complete and is therefore not functional.

MDA has contributed nearly $3 million towards ataluren’s development and phase 2 clinical testing.

The drug received conditional approval in the European Union in August 2014 for use in people with DMD caused by a nonsense mutation who are at least 5 years old and able to walk.

Today’s news follows PTC’s announcement in October 2015 of phase 3 trial results for ataluren showing clinically meaningful benefits for ataluren-treated patients, indicating the drug may slow functional decline in DMD patients, with some patients apparently responding more robustly to treatments than others.

MDA will share additional information as it becomes available. Be sure to check back at mda.org for updates.

https://www.mda.org/fda-tells-ptc-theraputics-ataluren-translarna-not-ready-review-time