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Researchers launch first clinical trial for Wolfram syndrome

The drug dantrolene is a muscle relaxant approved to treat patients with cerebral palsy, multiple sclerosis and muscle spasticity. Recent research also suggests it can prevent the destruction of insulin-secreting beta cells in animal models of Wolfram syndrome. Researchers at Washington University School of Medicine in St. Louis are beginning a clinical trial to assess the drug as a treatment for patients with Wolfram syndrome.

The drug dantrolene is a muscle relaxant approved to treat patients with cerebral palsy, multiple sclerosis and muscle spasticity. Recent research also suggests it can prevent the destruction of insulin-secreting beta cells in animal models of Wolfram syndrome. Researchers at Washington University School of Medicine in St. Louis are beginning a clinical trial to assess the drug as a treatment for patients with Wolfram syndrome.

 

Researchers at Washington University School of Medicine in St. Louis are launching a new clinical trial to assess the safety of a drug treatment for patients with the rare disease Wolfram syndrome.

Wolfram syndrome affects about one in every 500,000 people worldwide. Many of those patients die prematurely from the disease. Patients with Wolfram syndrome typically develop diabetes at a very young age and require insulin injections several times each day. The disorder also causes hearing loss, vision problems and difficulty with balance.

Although doctors treat patients’ symptoms, there have not been any therapies that slow the syndrome’s progress.

However, researchers at Washington University School of Medicine soon will test a drug treatment in 24 patients who have the genetic disorder.

The scientists previously reported in the Proceedings of the National Academy of Sciences that the drug, dantrolene — a muscle relaxant approved to treat patients with cerebral palsy, multiple sclerosis and muscle spasticity — prevents the destruction of insulin-secreting beta cells in animal models of Wolfram syndrome and in brain cells differentiated from skin samples taken from patients with the illness.

“Nobody has ever tested dantrolene in patients with Wolfram syndrome, so our first and most important objective is to make sure it’s safe,” said principal investigator Fumihiko Urano, MD, PhD, the Samuel E. Schechter Professor of Medicine. “I am very hopeful, however. The major question that I get from every patient I see is, ‘Is there any treatment?’ And until now, I’ve had to say no. With any luck, perhaps this study can help change that.”

In the mouse studies, and in experiments with brain cells made from a patient’s own stem cells, Urano previously found that dantrolene prevented death of brain cells and insulin-secreting beta cells.

Urano’s team plans to study 12 adult and 12 pediatric patients over nine months. All of the participants will undergo extensive testing before they begin taking the medication and after having taken the drug for six months. The researchers will closely monitor patients’ vision and brain function, as well as the function of their remaining insulin-secreting beta cells.

To be eligible for the study, all patients must be able to travel to the Washington University Medical Campus for testing and medication.

The study is funded by the Snow Foundation and the Ellie White Foundation. Both are advocacy groups that support Wolfram syndrome research. Urano also has applied for federal funding to support the clinical trial and wants to expand it to other medical centers.

He doubts that dantrolene can reverse the illness. “But hopefully, we can at least delay the progression of the disease,” he said.

For more information, call study coordinator Ashley Simpson at 314-286-1550, or e-mail ashley.simpson@wustl.edu.

 

Article by Jim Dryden

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Rare Disease Day and Francis Collins Raise Awareness For The Snow Foundation

Last week, in honor of Rare Disease Day, the Snow Foundation was interviewed by the St. Louis ABC affiliate, KDNL ABC 30.

The story focused on Stephanie Gebel and her fight for a cure for Wolfram syndrome and to revolutionize the diabetic world. Here is the story featured on the Jamie Allman Show.

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WUSM “Outlook” Magazine

TAKING THE FIELD

 

Family teams up against childhood syndrome

Washington University in St. Louis Magazine
BY Diane Duke Williams

Last year, Stephanie Snow Gebel found out that her youngest daughter, 5-year-old Raquel, has an extremely rare genetic disorder that may one day rob her of her sight, her hearing and many years of her life.

“As a mother, my heart aches,” Gebel says. “It’s hard to breathe sometimes when I ?think of watching my child deteriorate ?before my eyes.”

Facing Raquel’s illness has been especially hard on Gebel because she lost her parents in recent years. Her mother, Merry Snow, died in 1998 at the age of 54. Her father, Jack Snow, fondly remembered by St. Louis fans as a star wide receiver for the Los Angeles Rams and later as a Rams’ broadcaster, died in 2006. He was 62 years old. Snow died just nine months after his granddaughter Raquel was born.

Raquel, who is known for her sweet disposition, recently discovered soccer and basketball. She also enjoys playing with Barbie dolls.

She knows she has Wolfram syndrome and understands that the disease causes her to mix up the colors pink and purple. “We’ve told her to let us know if her eyesight gets worse or if she can’t hear the birds chirping in our backyard,” says Gebel, who also has three other children ranging in age from 3 to 11.

The first sign of Wolfram syndrome is typically juvenile onset diabetes. In addition to causing hearing and vision loss, the disease ultimately affects the brain. Most patients are diagnosed when they are 4 or 5 years old; in a span of five to eight years, degeneration of their hearing, vision and brain begins. Sixty percent of patients affected by Wolfram syndrome die before reaching their 30th birthdays.

Full article
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World Rare Disease Day 2014

Rare Disease Day PosterRare Disease Day is an annual, awareness-raising event co-ordinated by EURORDIS at the international level and by National Alliances and Patient Organisations at the national level. 

The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

The campaign targets primarily the general public but it is also designed for patients and patient representatives, as well as politicians, public authorities, policy-makers, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, more than 1000 events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage.

The political momentum resulting from the Day has also served for advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries.

Even though the campaign started as a European event, it has progressively become a world event, with over 70 countries participating in 2013. We hope many more will join in 2014. Our objective is for the WHO to recognise the last day of February as the official Rare Disease Day and to raise increasing awareness for Rare Diseases worldwide.

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Wolfram Movie

“A Light in the Shadows”

Photo of Stephanie Gebel filming movieFor the past few years, we have been filming a feature length documentary about Wolfram syndrome, and the brilliant team of doctors and scientists racing the clock for a cure.  Featured are the stories of four patient families, including Raquel Gebel and her family’s efforts to save her life and the lives of others through the creation of The Jack and J.T. Snow Scientific Research Foundation.  The inspiring story of a mother’s love and the lengths she will go for her child, and the resulting effect on humanity as a whole, is told poignantly through the efforts of Stephanie Snow Gebel, Raquel’s mother.  Filming is now complete, and we are entering the lengthy and expensive post production phase.  We are currently raising funds to complete and distribute this important film in the manner that the story deserves.  The documentary will reach audiences worldwide, spreading awareness and raising donations for Wolfram syndrome research.   With the funding that we need, the film will be complete by summer 2014.  For more information or to get on the film’s newsletter list, please email WolframMovie@gmail.com.  Thank you for your support.
Jocelyn Leroux, Producer/Director
“A Light in the Shadows” A Documentary Feature
Boatman Films, LLC
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Run for Raquel

The Snow-Gebel Family

LEFT TO RIGHT, TOP ROW: Barclay and Merry Gebel, Stephanie Snow Gebel
LEFT TO RIGHT, BOTTOM ROW: Jack, Raquel, and Lauren Gebel

Babler student benefits from Girls on the Run

A fundraiser benefiting The Jack and J.T. Snow Scientific Research Foundation was held on Nov. 4 as a service project of the Babler Elementary School Girls on the Run team. Over 200 individuals participated in the 1-mile walk/run along the Wildwood Trails, which concluded with a health fair and carnival at Babler Elementary School. The cost for participation in the event was $15 per person which included a race T-shirt and silicone bracelet with the “STOP WOLFRAM SYNDROME” message.

For more on this event, please click on the link below. West News Magazine/Newsmagazine Network 

 

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Ladue News Nonprofit Spotlight

On March 7, 2014, the Snow Foundation was on the cover of the Ladue News as well as highlighted as one of the Non-Profit organizations being featured on their society page.  They did a beautiful job capturing our story.  Below is an excerpt from the article.

By Brittany Nay

Photo by Sarah Crowder

Photo by Sarah Crowder

It’s a grim prognosis. Wolfram syndrome, a rare genetic disorder that strikes the young, presents as severe juvenile diabetes, and gradually causes loss of sight and hearing, often leading to death before the patient’s 30th birthday. Today, there is no cure.

But the Snow family and doctors at Washington University School of Medicine hope to change that—very soon. Eight-year-old Raquel, Stephanie Snow Gebel’s daughter and the granddaughter of the late Jack Snow—‘Voice of the Rams’—was diagnosed with the disease in 2010. As a toddler, Raquel began showing symptoms of diabetes: constant thirst and frequent urination. A year later, her vision began deteriorating and she was diagnosed with optic atrophy.

What happened next only can be explained as “the stars aligning,” Gebel says. By a stroke of luck, Raquel’s physicians—Drs. Lawrence Tychsen and Neil White at St. Louis Children’s Hospital—were both on the board of the Wolfram syndrome research program at Washington University School of Medicine. Through their collaboration, they determined Raquel had the rare disease that leads to the death of brain and pancreatic cells, causing severe diabetes and progressive vision and hearing loss, as well as problems with balance and coordination—and even breathing.

Led by the late Dr. Alan Permutt, a team of Washington University School of Medicine researchers discovered the Wolfram syndrome gene in 2000. Today, the research into the syndrome continues at the university, with the expertise of Dr. Fumihiko Urano.

Urano was so moved by the passion of Permutt and Gebel to end the disease, he changed the trajectory of his medical career on the East Coast to take over the Wolfram Syndrome research program following Permutt’s death in 2012. Since then, Urano and his research team have found the cause of the syndrome and identified four potential FDA-approved drugs for treatment, as well as a new group of drugs that may stop the brain and pancreatic cell death caused by the disease. The group is currently completing clinical testing for the drug candidates before it can move on to clinical trials.

And the drugs have even further significance beyond implications for Wolfram syndrome that could revolutionize the diabetic world, Urano notes. “Drugs that are effective for Wolfram syndrome could be effective for other forms of diabetes.” But because it is such a rare disease, more awareness and funds to find its cure are needed, he says.

Click on the link below to read the full article.

Ladue News Nonprofit Spotlight – The Snow Foundation

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