I am a prisoner to hope when it comes to this disease. From day one of my daughter’s diagnosis, God placed a big dream in my heart — to find a cure for Wolfram Syndrome (WS). Since I started this foundation in 2012, it has not been just chance that brought the right people together at the right time. There has definitely been a divine hand in all of this, uniting the scientists, researchers, chief medical officers, patients, friends and colleagues in this fight. WS is not just a rare disease, it is an ultra-rare disease. And with less than 5% of the world’s 7,000+ rare diseases being funded, we are truly blessed with the progress we’ve made. Doors are opening up all over the world for WS research, and we will conquer this disease. Remember teamwork makes the DREAM work!
A British consortium wins the joint Call for Proposals launched by three Wolfram-syndrome organizations
Three British and one Australian research teams, coordinated by Professor Timothy Barrett, have been awarded the funding of 200,000 € by the Association syndrome de Wolfram, the Eye Hope Foundation and the Snow Foundation. Their project aims at “developing biomarkers that will show early evidence of benefit of a treatment; and patient self-report outcome measures that will help with regulatory approval. These two initiatives will speed up the delivery of treatments to patients in the clinic”.
On April 25th 2017, the Association syndrome de Wolfram (France), the Eye Hope Foundation (Belgium) and the Snow Foundation (USA) have decided to join forces to more efficiently fight the disease. Their objective: fund a large-scale project aimed at accelerating the development of new treatments against Wolfram syndrome.
They organized a call for proposals, which was a great success. Six research teams, located in six different countries (USA, Belgium, France, United-Kingdom, Spain and Israel), have sent a proposal. These proposals were then evaluated by a pool of independent world-renowned experts in the field of Wolfram syndrome and drug development. Based on their recommendations, the Presidents of the three organizations have elected the most promising project.
The project coordinated by Professor Timothy Barrett is entitled “Accelerating clinical trials in Wolfram syndrome: development of efficacy biomarkers and patient relevant outcome measures”. It will start on October 1st 2017 and will terminate by September 2019. It is funded through equal contributions from the Association syndrome de Wolfram (France), the Eye Hope Foundation (Belgium) and the Snow Foundation (USA).
A note from Dr. Timothy Barrett
“The international Wolfram community stands out from other rare disease communities in that it is highly collaborative: research scientists and patient groups work closely together across academic institution and national boundaries. The initiative by Association Syndrome de Wolfram, Eye Hope Foundation, and The Snow Foundation, is an outstanding example of this. Our teams are highly honored to be awarded the first joint funding, and we will work hard to ensure our research leads to benefits for patients. We will address one of the blocks to treatments, by finding ways to measure their effects on outcomes important for patients. At the end of our studies, we will have a toolbox of markers to show when treatments work, and to help convince health regulators to license treatments for patients to use in the clinic.”
Sincerely,
Tim Barrett
Update by Fumihiko Urano, M.D.
September 22, 2017
Dear Friends,
It is nice to “meet” you again. Thank you for your generous and continued support for our therapeutic development for Wolfram syndrome. With the support from the Snow Foundation, multiple patient organizations and supporters around the world, and federal grants, I could maintain the Wolfram syndrome program to study the disease, which led to fundamental laboratory studies that uncovered the molecular genetic defect, and ultimately to the identification of a therapeutic target that is now being tested in patients. Our first clinical trial of a re-purposed drug, dantrolene sodium, in patients with Wolfram syndrome is ongoing. We have been monitoring the safety, tolerability, and efficacy of dantrolene sodium in 21 patients who have qualified for the study. You can find the information about the inclusion and exclusion criteria on the following website. We have both male and female participants in pediatric and adult populations. https://clinicaltrials.gov/ct2/show/NCT028292680
The planned duration of oral dantrolene sodium administration in this study is 6 months with an optional extension phase up to 24 month. All the participants are required to come to our clinic 9 times in the first 6 months to determine the appropriate dose and ensure the safety. After the first 6 months, participants come to our clinic every 6 months up to 24 months. As of today (September 22, 2017), 20 participants are taking dantrolene sodium and one participant has left the study due to personal reasons. 9 out of 20 patients have been taking dantrolene sodium for more than 6 months. In addition to safety and tolerability, we have been assessing our participants’ visual acuity, remaining beta cell functions (i.e., their ability to produce insulin from their own pancreases), and neurological functions every 6 months. We plan to publish the data once we collect the information from these 20 participants after the 6-month administration of dantrolene sodium.
On a different note, Senator Roy Blunt and the Director of National Center for Advancing Translational Sciences (NCATS), Dr. Christopher Austin (https://ncats.nih.gov/), visited our medical center last month. I had a chance to present our medical center’s efforts on rare disease therapies. I am glad to tell you that our presentations were perceived really well. Stephanie and I met with Dr. Austin a few years ago at the NCATS headquarter in Bethesda, close to Washington DC, and that was the beginning of my collaboration with the drug development team at NCATS. We will keep on working together for developing rare disease therapies.
Thank you for being with me. I plan to update you about our two new drugs and regenerative gene therapy for retinal degeneration in my next blog. I hope you will have a wonderful fall season. See you soon.
The 2017 Wolfram Research Clinic has come to an end and we have another successful clinic on the books! Thank you so much to both our new and returning families for their contributions and to the many testers and examiners who donated their time to this very worthy cause! Without you, the clinic would not be possible!
What’s Next
As you recover from the clinic and settle back into your routines, we will begin the process of collecting the assessments, summarizing the results, and compiling the feedback reports that will then be sent to you this fall. The feedback reports will contain information on the following evaluations: audiology (for new patients only), neuroimaging and neuropsychology, neurology, ophthalmology, psychiatry, and sleep. If, after receiving your feedback report, you have questions or need additional information please contact us. We are also happy to speak with any physicians who view the feedback and would like additional information.
Kind Words
The clinic staff always welcome comments and/or suggestions from our families regarding the clinic. We value your feedback and carefully consider it when planning the next year’s clinic. We appreciate you taking the time to send us your comments. That being said, it’s a special day when we receive such a kind message from a parent. Thank you!
“I just wanted to send a quick email and say thank you again to you and everyone for everything. Everyone was so amazing! I understand the disease a little more now after meeting with everyone. Seeing all of you working so hard together to better understand this disease and what makes it tick, well, I’m beyond grateful for all of you! For the first time since the diagnoses, I have some hope! See you all next year!”
RESEARCH UPDATE
Dear Research Clinic Families:
Our relatively small, focused research clinic went very smoothly this year, despite the record-setting heat in St. Louis. Thank you all for your efforts on this 8th annual WU Wolfram Research Clinic!
At the research clinic, we announced that very good news that the grant that funds our natural history study received an excellent score, making it highly likely to be funded. We find out for sure this fall. The grant represents 3.7 million dollars over 5 years and will focus on understanding individual differences in the neurologic phenotype of Wolfram Syndrome, and on testing hypotheses about myelination (the white matter) in the brain and how it changes over time and relates to symptoms. The bottom line is that we will be able to ramp back up next summer!
We are also committed, along with Dr. Urano and Dr. Barrett, to make any ongoing clinical trials fit with the natural history study so that we make the very best use of your time and the data collected. In doing so, we will make more rapid progress towards our goal of understanding and treating Wolfram Syndrome!
Samantha, Dr. Marshall and I will start planning the next clinic in the coming months. Stay tuned for updates on the grant and plans for next summer.
Best wishes to you all for a happy rest of summer and good luck to all students returning to school!
Sincerely,
Tamara Hershey, Ph. D.
Scientific Director & Principal Investigator,
WU Wolfram Research Clinic
Suite 2203, East Bldg, 4525 Scott Avenue. St. Louis MO
Thank you to everyone who came to the Wolfram Syndrome Research Clinic in July. The clinic was a great success, though we missed the many familiar faces and all the hubbub of the usual big clinic!
Please know that, even if you did not come to the Wolfram Research Clinic this year, you are still welcome to request assistance with letters for school, disability, insurance, etc., at any time. You and your doctors are also welcome to call or email any time with concerns and we are happy to help wherever we can. Should you require any of these things please contact Samantha Ranck, the WFS clinic coordinator, and she will put you in touch with the right person.
To all of you who are participating in Dr. Urano’s dantrolene sodium safety study, we have also been very pleased to see you when you come for your study visits. We are all waiting to see how the data from that study turns out. Take care and stay in touch!
All the best,
Bess Marshall, MD
Pediatric Endocrinologist & Research Clinic Medical Director
2017 Wolfram Syndrome Research Clinic – Smiling faces all around!
Good Times!
Thank you once again to the Snow Foundation for hosting the family dinner night on the second night of the clinic. This is such a special time for families to be able to relax a bit and get to know each other. The family dinner is a highlight of the clinic each year and something that families very much look forward to.
Patiently Waiting
Dr. Hershey and clinic volunteers Olga Neyman, Marisol Ponton, Sharrada Srivatsa and Rachel Marshall waiting for the next testing session to begin.
Need Help?
For questions or requests regarding the Wolfram Syndrome Research Clinic please contact the WFS Research Clinic Coordinator, Samantha Ranck.
*For more information about Wolfram Syndrome and the WU Wolfram Research Clinic go to: hersheylab.wustl.edu
*One way to interact with other Wolfram patients and their families, to learn more about fundraising activities and scientific developments in the US and UK as well as, links to helpful resources is to follow the “Wolfram Syndrome” page on Facebook (www.facebook.com)
#GivingTuesday Year-End Game Plan for Wolfram Families
You Can Help With a “Gift of a Cure”
The holidays are just around the corner, so we’ve started to prepare. The Snow Foundation would like to try a new fundraising approach this year. We challenge each family to reach out to friends and family members and ask for their support of Wolfram Syndrome. Their support could directly impact your child’s survival of Wolfram Syndrome. Dantrolene has shown promising results, and there are other drugs that may help even more. But to test those drugs, we need money. This is why we are asking each family to raise $500. If each family raises $500, we could potentially raise over $63,000. Raising $500 is as easy as getting five friends or family members to donate $100 each, 10 to donate $50 each, or 20 to donate $25 each. If you work for a large company, you could check if the company would match what you raise to bring in even more.
The holiday season is a time of giving, and it is an ideal time to meet this challenge. Simply ask family and friends that, in lieu of gifts, they consider making a donation to The Snow Foundation in your loved one’s name. Below is some sample wording to get you started.
What better way to make the holiday season meaningful than with a gift in honor of ____________________ to The Snow Foundation. You could be part of a growing tradition by helping The Snow Foundation find a cure. Instead of material items, choose to honor ___________________ with a gift that will help find a cure. Consider giving a gift that could change ________________’s life for eternity.
Your donation to The Snow Foundation will directly benefit _________________, and it will help fund research to find a cure for Wolfram Syndrome. ___________________ and many others are fighting for their lives. Please help us find a cure for Wolfram Syndrome.
Feel good this holiday season, and be a part of the Gift of Donation holiday campaign. Join in the fight by knowing your contribution can directly change the life of ________________.
John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge
MRC Mitochondrial Biology Unit, University of Cambridge
Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals
Moorfields Eye Hospital and UCL Institute of Ophthalmology, London
I am an eye doctor (ophthalmologist) with a particular interest in genetic eye diseases. I look after patients with Wolfram syndrome in my specialist clinic and I also lead a research group that is investigating ways of slowing or preventing loss of vision in patients affected with this relatively rare genetic disorder.
How is visual information sent from the eye to the brain?
The eye is a very sensitive camera that converts an image from the outside world into an electrical signal. At the back of the eye is the optic nerve, which is similar to a high-speed “broadband cable” that allows this electrical signal to be sent quickly to the vision centres at the back of the brain to be decoded. The figure above illustrates how visual information gets from the eye to the brain via the connecting optic nerve.
What is optic atrophy?
The majority of patients with Wolfram syndrome will develop optic atrophy. Optic atrophy means that the optic nerve has been damaged and it looks pale in colour when the eye doctor looks at the back of the eye with the appropriate equipment. Because the optic nerve is damaged, less visual information is sent from the eye to the brain, and this also happens more slowly with transmission errors. As a result, patients with Wolfram syndrome start to struggle with their central vision and they find it increasingly difficult to read small print and make out people’s faces (as in the example shown below). Visual difficulties usually start in childhood and they tend to get progressively worse with time.
What other eye problems can you get in Wolfram syndrome?
Diabetes is very common in Wolfram syndrome, but fortunately diabetic eye complications tend to be rare. Nevertheless, patients with Wolfram syndrome need to take particular care that their blood sugar levels are well controlled to avoid further diabetic eye complications in addition to optic atrophy.
A small group of patients with Wolfram syndrome can develop cataracts at a young age. If the eye doctor spots that a cataract is present and vision is getting worse because of it, the option of cataract surgery can be discussed.
What treatments can we offer at the moment?
Unfortunately, there is currently no proven treatment to stop the damage to the optic nerve and loss of vision. There is a lot of research being carried out at the moment to look for drugs that can protect the optic nerve. Gene therapy is also being considered, but this strategy is still an early stage of development and so far, studies have only been carried out in mice.
As there are no effective treatments yet for the optic atrophy in Wolfram syndrome, visual rehabilitation is very important and children, especially, must be provided with the right level of support at school.
How frequently should an eye check-up be carried out?
All patients with Wolfram syndrome should ideally have an annual check-up. Drops will usually be put in the eyes to dilate the pupils and make it easier to have a careful look at the back of the eye for any changes since the patient’s last visit.
The Wolfram Syndrome Community Loses a Significant Contributor
It is with deep sadness that we share the news about the passing of Christian Hamel. Hamel, who died on August 15 at age 62, showed outstanding courage during a four-year battle against the disease that took his life. He was very energetic, dedicating much of his time to the eye gene therapy program and opening a multidisciplinary clinic last June at Montpellier, France. Since 2008, he contributed significantly to the Wolfram Syndrome community by helping organize the French Association for Wolfram Syndrome. Hamel, father of two children, tirelessly pursued his goal of identifying the genes responsible for rare diseases affecting vision, and experimenting with treatments to heal one day. His death is a great loss for the scientific world. Our prayers go out to his relatives, his patients and the entire medical community.
Thank you to Lafayette High School girls volleyball team in Wildwood, Missouri. The Refuse to Lose fundraiser was held in honor of Lafayette senior Merry Gebel’s younger sister and her fight against Wolfram Syndrome. The Refuse to Lose event not only raised over $6,000 for the fight against Wolfram Syndrome but also received wonderful coverage by numerous news channels. Click here to watch…
Audrey Wipperman was diagnosed with insulin dependent diabetes when she was six-years-old, but it wasn’t until a couple years later that an abnormal eye exam led her doctors to finally diagnose her with Wolfram Syndrome. Thankfully, by this time, Wolfram Syndrome research had advanced such that she was able to enroll in a study following the progression of the disease. Over the course of seven years, without a cure or treatment, Audrey has stepped up to the daily challenges of dealing with diabetes, vision loss and other neurodegenerative conditions caused by Wolfram Syndrome with courage and grace. This spring, we are excited for the two milestones that took place for Audrey. To coincide with her graduation from high school, she also became part of the first ever clinical trial for Wolfram Syndrome brought about with funding and coordination in part from The Snow Foundation and Washington University School of Medicine. In addition, Audrey’s friends honored her achievements by donating their monetary gifts to The Snow Foundation to facilitate future efforts toward a cure and treatment for Wolfram Syndrome! The Snow Foundation wishes Audrey the best as she enrolls in college this Fall and continues to work to improve the outcomes for all Wolfram Syndrome patients.
Lularoe Fundraiser for Caitlyn Fess and The Snow Foundation
Thank you to Sophie Dutrisac who had a bake sale to raise money for The Snow Foundation. Sophie’s mom, Christiane, suffers from WS and Sophie would like to find a cure to help her mom’s eye’s. She raised $91.00.
Bling for Bri
SPECIAL THANK YOU TO SARAH DEBROCK FROM PREMIER DESIGN JEWLERY. Sarah held a fundraiser on behalf of Briana Wozniak and donated 40% of the proceeds to The Snow Foundation. They raised $378! If you are interested in a piece of new jewelry, considering shopping through Sarah by clicking on this link: www.premierdesigns.com/sarahdebrock
Thank you to the Mediation offices of Floyd J. Siegal for mentioning TSF in their monthly newsletter and donating a portion of their mediation fees to the Snow Foundation.
We would like to thank our families who have honored the memory of loved ones by directing donations to The Snow Foundation. This thoughtful and meaningful way to pay tribute to those we’ve lost enables us to move forward with our research, and in doing so, we honor them. Thank you for making a difference.
I am a prisoner to hope when it comes to this disease. From day one of my daughter’s diagnosis, God placed a big dream in my heart — to find a cure for Wolfram Syndrome (WS). Since I started this foundation in 2012, it has not been just chance that brought the right people together at the right time. There has definitely been a divine hand in all of this, uniting the scientists, researchers, chief medical officers, patients, friends and colleagues in this fight. WS is not just a rare disease, it is an ultra-rare disease. And with less than 5% of the world’s 7,000+ rare diseases being funded, we are truly blessed with the progress we’ve made. Doors are opening up all over the world for WS research, and we will conquer this disease. Remember teamwork makes the DREAM work!
