Rare Disease Day – Feb 28th

Today is Rare Disease Day. Please take a moment of your time and read this personal message from Nicola Worsfold, founder and president of Stand for Duchenne Canada.

“Today marks an important day for our family as well as all those affected by a rare disease. Did you know that rare diseases affect one in twelve Canadians, two thirds of them children? If you don’t already know someone with a rare disease, chances are you do and may not be aware.

Our son Owen was diagnosed with Duchenne Muscular Dystrophy (DMD) 6 years ago. His rare disease is a progressive, muscle wasting, genetic disorder. Symptoms of Duchenne usually appear in early childhood, as the muscles begin to weaken. Most boys will show signs between the ages of one and three and will need to use a wheelchair by age 12. Ultimately, boys living with DMD are unable to look after themselves, requiring immense financial, emotional and physical support from families and caregivers.

While there is currently no cure for DMD, researchers are making great advances in slowing the progression of the disease. However, much work still needs to be done in Canada to ensure those affected have timely access to therapies and treatment. We are working hard to ensure this happens as time is not on our side. Help us spread the word and share your story”

Sarepta Therapeutics Announces Positive Preliminary Results in the Phase 1/2a Gene Therapy Micro-dystrophin Trial

From Sarepta Therapeutics release

Sarepta Therapeutics Announces that at its First R&D Day, Jerry Mendell, M.D. Presented Positive Preliminary Results from the First Three Children Dosed in the Phase 1/2a Gene Therapy Micro-dystrophin Trial to Treat Patients with Duchenne Muscular Dystrophy

Sarepta Therapeutics announced that at the Company’s R&D Day, Jerry Mendell, M.D. of Nationwide Children’s Hospital presented positive preliminary results from its Phase 1/2a gene therapy clinical trial assessing AAVrh74.MHCK7.micro-Dystrophin in individuals with Duchenne muscular dystrophy (DMD). Dr. Mendell presented the following preliminary data on the first three patients enrolled in the study:

  • All patients showed robust expression of transduced micro-dystrophin, which is properly localized to the muscle sarcolemma, as measured by immunohistochemistry. Mean gene expression, as measured by percentage of micro-dystrophin positive fibers was 76.2% and the mean intensity of the fibers was 74.5% compared to normal control.
  • All post-treatment biopsies showed robust levels of micro-dystrophin as measured by Western blot, with a mean of 38.2% compared to normal utilizing Sarepta’s method, or 53.7% compared to normal pursuant to Nationwide Children’s quantification of Sarepta’s method that adjusts for fat and fibrotic tissue.
  • A mean of 1.6 vector copies per cell nucleus was measured in patients, consistent with the high micro-dystrophin expression levels observed.
  • All patients showed significant decreases of serum creatine kinase (CK) levels, with a mean reduction of CK of over 87% at Day 60. CK is an enzyme associated with muscle damage and patients with DMD uniformly exhibit high levels of CK. Indeed, significantly elevated CK is often used as a preliminary diagnosis tool for DMD, which is then followed by confirmatory genetic testing.
  • No serious adverse events (SAEs) were observed in the study. Two patients had elevated gamma-glutamyl transferase (GGT) that resolved with increased steroids within a week and returned to baseline levels. There were no other significant laboratory findings. Patients had transient nausea generally during the first week of therapy coincident with increased steroid dosing.

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PTC Therapeutics Receives Complete Response Letter for Ataluren’s NDA

from PTC Therapeutics

SOUTH PLAINFIELD, N.J., Oct. 25, 2017 /PRNewswire/ — PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced that the Office of Drug Evaluation I of the U.S. Food and Drug Administration (FDA) has issued a complete response letter (CRL) for the New Drug Application (NDA) of the investigational medicine ataluren for the treatment of nonsense mutation dystrophinopathies.

“We are extremely disappointed for the Duchenne community and strongly disagree with the agency’s conclusions,” said Stuart W. Peltz, Ph.D., chief executive officer of PTC Therapeutics. “We believe that this decision fails to consider the benefit-risk of ataluren and the high unmet medical need. Therefore, we plan to file a formal dispute resolution request next week.”

The letter from the Office of Drug Evaluation I of the FDA stated that it is unable to approve the application in its current form. Specifically, the letter indicated that evidence of effectiveness from an additional adequate and well-controlled clinical trial(s) will be necessary at a minimum to provide substantial evidence of effectiveness. The letter also mentioned other nonclinical and CMC matters that PTC is in the process of addressing.

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