ANOTHER BIRTHDAY

My older son Steven Nathaniel Wolkoff would have been 39 years old today.

What can a parent say on the birthday of their dead child?

A living child asks for a birthday party. 

As they become older, you, as the parent, ask them what they want for their birthday. There’s dialogue. 

It’s tradition to remember your child's birthday, to not do so ignores that they lived.

But what exactly is a parent supposed to do on the birthday of their child when he is gone? 

Not gone, as in out of town or at the beach, or out of the country. Gone as in, no longer alive.

A dead child doesn’t want. 

A dead son asks for nothing.

What does a mom or dad do? 

Where’s the rule book for recognizing birthdays of a dead child?

Steven was born on the first day of Fall and died on the first day of Summer. 

There something odd to me about the the significance of the equinox and solstice in his life and its parallel meaning to the Earth. 

If the autumnal equinox represents balance, then the summer solstice was most certainly the day we felt our world come to a deafening halt on the longest day of the year.

Steven lies dead in a grave because of the negligence and indifference of those who killed him, stole his life at the age of 30, and have tried to erase that he ever lived.

I mourn what was, what could of been, and what will never be.

You deserved so much better my son, it just wasn't meant to be. 

Steven Nathaniel Wolkoff: 

I will Love and Remember you Forever. Love-Dad

ETEPLIRSEN APPROVED FOR TREATMENT OF DUCHENNE MUSCULAR DYSTROPY-SEPTEMBER 19, 2016

                     UPDATED SEPTEMBER 19, 2016

Sarepta Therapeutics Inc has received the U.S. Food and Drug Administration’s approval of their Sarepta’s eteplirsen injection drug today,September 19, 2016

Eteplirsen, otherwise known as Exondys 51, has been approved for the treatment of Duchenne muscular dystrophy, particularly in patients with a rare form of DMD.

The FDA’s Center for Drug Evaluation and Research director, Janet Woodcock, had this to say:

“Patients with a particular type of Duchenne muscular dystrophy will now have access to an approved treatment for this rare and devastating disease. In rare diseases, new drug development is especially challenging due to the small numbers of people affected by each disease and the lack of medical understanding of many disorders. Accelerated approval makes this drug available to patients based on initial data, but we eagerly await learning more about the efficacy of this drug through a confirmatory clinical trial that the company must conduct after approval.”

The clinical trial Woodcock is referring to is a condition of the FDA approval where Sarepta will have to hold a randomized two-year trial to determine just how effective the drug is as a treatment. From the Department of Health and Human Services:

“If postmarketing clinical trials fail to verify clinical benefit or are not conducted with due diligence, we may, following a hearing in accordance with 21 CFR 314.530, withdraw this approval.”

Winning FDA approval had been an uphill battle for SRPT, as the efficacy of the drug was hotly debated for months leading up to today’s decision.

Mainly, opponents of the treatment questioned the drug’s ability to produce the protein dystrophin, needed to keep muscle fibers from degenerating. Also in question was a 12-patient clinical trial used by SRPT, as the company did not test the treatment in a larger, placebo-controlled group per the FDA’s requests. For these reasons, the drug was deemed ineffective and failed to meet approval in April of this year.

Exondys 51 is specifically indicated for patients who have a confirmed mutation of the dystrophin gene amenable to exon 51 skipping, which affects about 13 percent of the population with DMD.

DMD is a rare genetic disorder characterized by progressive muscle deterioration and weakness. It is the most common type of muscular dystrophy. DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. The first symptoms are usually seen between three and five years of age, and worsen over time. The disease often occurs in people without a known family history of the condition and primarily affects boys, but in rare cases it can affect girls. DMD occurs in about one out of every 3,600 male infants worldwide.

People with DMD progressively lose the ability to perform activities independently and often require use of a wheelchair by their early teens. As the disease progresses, life-threatening heart and respiratory conditions can occur. Patients typically succumb to the disease in their 20s or 30s; however, disease severity and life expectancy vary.

Exondys 51 was approved under the accelerated approval pathway, which provides for the approval of drugs that treat serious or life-threatening diseases and generally provide a meaningful advantage over existing treatments. Approval under this pathway can be based on adequate and well-controlled studies showing the drug has an effect on a surrogate endpoint that is reasonably likely to predict clinical benefit to patients (how a patient feels or functions or whether they survive). This pathway provides earlier patient access to promising new drugs while the company conducts clinical trials to verify the predicted clinical benefit.

The accelerated approval of Exondys 51 is based on the surrogate endpoint of dystrophin increase in skeletal muscle observed in some Exondys 51-treated patients. The FDA has concluded that the data submitted by the applicant demonstrated an increase in dystrophin production that is reasonably likely to predict clinical benefit in some patients with DMD who have a confirmed mutation of the dystrophin gene amenable to exon 51 skipping. A clinical benefit of Exondys 51, including improved motor function, has not been established. In making this decision, the FDA considered the potential risks associated with the drug, the life-threatening and debilitating nature of the disease for these children and the lack of available therapy.

Under the accelerated approval provisions, the FDA is requiring Sarepta Therapeutics to conduct a clinical trial to confirm the drug’s clinical benefit. The required study is designed to assess whether Exondys 51 improves motor function of DMD patients with a confirmed mutation of the dystrophin gene amenable to exon 51 skipping. If the trial fails to verify clinical benefit, the FDA may initiate proceedings to withdraw approval of the drug.

The most common side effects reported by participants taking Exondys 51 in the clinical trials were balance disorder and vomiting.

The FDA granted Exondys 51 fast track designation, which is a designation to facilitate the development and expedite the review of drugs that are intended to treat serious conditions and that demonstrate the potential to address an unmet medical need. It was also granted priority review and orphan drug designation.

Priority review status is granted to applications for drugs that, if approved, would be a significant improvement in safety or effectiveness in the treatment of a serious condition. Orphan drug designation provides incentives such as clinical trial tax credits, user fee waiver and eligibility for orphan drug exclusivity to assist and encourage the development of drugs for rare diseases.

The manufacturer received a rare pediatric disease priority review voucher, which comes from a program intended to encourage development of new drugs and biologics for the prevention and treatment of rare pediatric diseases. This is the seventh rare pediatric disease priority review voucher issued by the FDA since the program began.

Exondys 51 is made by Sarepta Therapeutics of Cambridge, Massachusetts.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation’s food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.

                       Updated April 29, 2016             

                             Duchenne Muscular Dystrophy

I have written previously about Duchenne muscular dystrophy, a rare and fatal, genetic muscle disease that affects children (CLICK HERE TO VIEW PREVIOUS POSTS).