I saw a picture on Facebook the other day that was taken back in 2011 at our very first event. It was of me, my brother, J.T., and my sweet Raquel, who was only six at the time. That event was held at the Edward Jones Dome, and it was hugely supported by the St. Louis Rams. Wow, have times changed since then! We no longer have the Rams, but the good news is we are currently conducting a clinical trial that could help Wolfram patients. That event raised enough money to save the promising research being conducted by the late Dr. Alan Permutt. I felt such joy and inspiration, knowing that people cared and rallied around a small, unknown, “ultra rare” disease.
I was just a naive, stay-at-home mother of four back then, who was scared to death at the possibility of watching her beautiful daughter slowly suffer from neurodegeneration. Most people have heard of neurodegeneration; Alzheimer’s and Parkinson’s are the two most common forms. Yet it seems few have heard of Wolfram Syndrome. Now even more patients and researchers are counting on us to make a difference. Please remember a cure for Wolfram Syndrome could also lead to a cure for Alzheimer’s and Parkinson’s. Your tax-deductible gift will give us the chance to keep moving forward. Don’t give up, I’m not!
Washington University Wolfram Research Clinic completes its 8th consecutive year!
Dear Wolfram Families and Supporters:
The Washington University Wolfram Research Clinic (or ‘natural history) study just finished its 8th consecutive year of assessing patients with Wolfram Syndrome. This work began in 2010, supported in part by the Snow Foundation. For the past 5 years, it has been supported by a National Institutes of Health grant in Dr. Hershey’s lab (Tracking Neurodegeneration in Wolfram Syndrome; Hershey, Principal Investigator). The focus of this grant is on understanding the neurological changes that may occur over time in Wolfram Syndrome, including the function of the brain (e.g. vision, balance) and the structure of the brain (e.g. the volume or integrity of different regions of the brain).
This year, we focused on assessing new patients, and those who had only been seen once or twice before. We hosted 9 families from all over the country and performed 106 exams and 8 MRIs. This clinic was smaller than previous years due to limitations in funding and the ongoing Dantrolene safety study. However,
this focus allowed us to increase our understanding of how symptoms change over a 2 year time period, which are critical data for planning and implementing clinical trials. Altogether, over the past 8 years, we have assessed 40 unique individuals with Wolfram Syndrome and their families, some up to 7 times.
Just weeks before the clinic, we got the good news that our request to extend this work for another 5 years was reviewed very favorably! We received a score which should ensure that we get the funding we need, but will only know for sure this fall. In anticipation, we are going to start planning for
next summer’s research clinic soon and hope to open it to anyone who has been seen in the past or any new patients that come to our attention.
We will work together with Dr. Urano on any ongoing drug safety or efficacy studies to make sure that families do not have to choose between studies and that each study can support the other’s goals.
As always, we will keep you up to date with our WU Wolfram Research Clinic newsletters, the Snow Foundation newsletters, our website (http://hersheylab.wustl.edu) and emails or calls. Please contact any of us at any time if we can provide more information or assistance! We would love to hear from you!
Thank you!
Tamara Hershey, Ph. D.
Professor & Principal Investigator,
WU Wolfram Research Clinic
The Snow Foundation was honored to celebrate patients and their families with their annual dinner held at the Wildflower.
Dr. Barrett Update
Dear Friends and colleagues,
I would like to give you an update as to progress with our clinical trial of a treatment for Wolfram syndrome.
We had the final confirmation of funding from the UK Medical Research Council on December16th 2016, so were able to start work on the study protocol early in the New Year. We were fortunate to have Ms Rebecca Storey appointed as Senior Trials Coordinator in January. She has lots of experience in running clinical trials, and is based in the Clinical Trials Unit, University of Birmingham. She hopes to attend the family conference in October, so I hope some of you will meet her.
We then appointed local lead investigators for the UK: this will be Dr Renuka Dias for the children’s hospital clinic, and Dr Ben Wright for the Queen Elizabeth Hospital adult clinic. Also in January, Tracy kindly met with me at my parents’ house near Gatwick Airport, where we discussed what the clinical trial would look like, and what to include in the participant information sheets. The main point was that families would prefer partipants to have an increased chance of receiving the study medicine rather than the placebo. I took this back to our trial statistician Kristian Brock, who has been able to include this request. Participants will now have a 2:1 chance of being given the study medicine rather than the placebo. Kristian Brock is an expert in statistics and trial design, and will also try to attend the family conference.
In February we started discussions with Guy’s and Thomas’s Pharmacy manufacturing unit to prepare the medicine and placebo. We also prepared the ethics application form, and had a telephone conference with our international partners in Spain, France and Poland.
In March I went to our local Young Persons’ Advisory Group. This is a group of 11-23 year olds, who kindly volunteer to read study information and critically appraise it so that it is readable and easily understood. I took them the participant information sheets I had prepared, and I am sorry to say they looked them over very critically! They pointed out that the layout could be improved; that there was some repetition; and that a glossary of medical terms would help. I am very grateful to them and the information sheets are now shorter and clearer to read.
In April I attended the European Medicines Agency in London with Julie Warner, from Boyd Consultants, who provide regulatory advice. They agreed that we must check if the treatment slows the rate of deterioration of vision; however they would like a second outcome measure that is important for families. We are now working with experts on patient reported outcome measures, and would like to propose some ideas to you – things to measure which are important for a treatment to improve.
I also visited the French Wolfram association in Paris, just before Easter, and attempted to present the clinical trial in French. The audience was very polite and tolerated my schoolboy French! In May I gave a similar presentation to Spanish families in Almeria, hosted by Dr Gema Esteban, our Spanish collaborator. There is a lot of enthusiasm to take part, and there were many questions. Some of these related to randomisation, and I had to explain that the European Medicines Agency insist that some people receive the medicine and some the placebo. This is in order to provide the strongest evidence that our medicine works.
We are now hoping to sign the contract with the pharmacy manufacturers; submit the ethics application package in September; and recruit the first participants in the UK at the end of November. The timescale has been extended as we have to show that the medicine is stable outside the manufacturer’s packaging, when we put it in airtight plastic containers. This stability testing started last week, and takes 3 months.
Later this month, we have a local investigator meeting, where we will sort out the practical aspects of what tests we will be asking participants to have. I would like to write another update at the beginning of July when I can feed back on this meeting.
Please don’t hesitate to get in contact if I can help at all with any questions. Meantime, thank you all for your kind interest and support!
It’s a spectacular Saturday morning in Saint Louis as I write this to you. I always appreciate your continued support, encouragement, and kind words.
I have received many questions regarding our ongoing clinical trial, as well as questions related to our next step lately.
Although we don’t have a concrete plan yet, we consider the following possibilities.
A longer duration, More participants, Multi-center
Compare the efficacy of dantrolene sodium, valproic acid, and dantrolene sodium plus valproic acid
We are also developing breakthrough treatments for Wolfram syndrome as dantrolene and valporic acid are old drugs originally developed for other medical conditions.
Here are our new plans.
We have been developing a new drug designed for Wolfram syndrome (ER stress stabilizers) together with NIH/NCATS to delay/halt the progression of the disease. Pre-clinical studies in mouse models of Wolfram have been designed. We are seeking funds to complete these studies.
Regenerative therapies using a novel neurotrophic factor in combination with gene transfer technology for visual impairment have been designed. We are seeking funds for testing these new therapies in mouse models of Wolfram syndrome.
I think we are making progress, and need to speed up as we are racing against time. Thank you again for your support.
Global Genes 2017 RARE Champion of Hope Award Nominee
Congratulations to Stephanie Snow Gebel for being nominated for the 2017 RARE Champion of Hope Awards…
Hundreds of individuals and organizations worldwide were nominated by their peers for the 2017 RARE Champion of Hope awards to honor their notable efforts in rare disease advocacy, science, collaborative sciences, and medical care and treatment.
The Snow Foundation would like to thank Townsend Music School for raising awareness and funding for the Snow Foundation. With more than 65 years of excellence and success, this music school is rallying around one of its students and her struggles with Wolfram Syndrome. St. Louis native Raquel Gebel (12) started taking piano lessons from Tim Townsend in February of 2017, and she soon made a huge impact on him. Tim was impressed by her drive to learn to play the piano, even though she is blind in one eye and legally blind in the other eye. Tim has been creating YouTube videos of Raquel, and he runs a video in his waiting area explaining the disease and promoting The Snow Foundation. It is uplifting to see such support from the students and their families.
Please click on the YouTube channel below to watch Townsend Music’s awareness video for The Snow Foundation.
Adult Wolfram clinics are run from the Rare Disease Centre which is located in the Heritage Building on the Queen Elizabeth site Birmingham and are taking place on the following days:
Meet Ben Sheargold, the Founder and President of The Wolf Pack Foundation. The Wolf Pack Foundation represents WS patients in Australia and New Zealand. www.thewolfpackfoundation.com.au
I saw a picture on Facebook the other day that was taken back in 2011 at our very first event. It was of me, my brother, J.T., and my sweet Raquel, who was only six at the time. That event was held at the Edward Jones Dome, and it was hugely supported by the St. Louis Rams. Wow, have times changed since then! We no longer have the Rams, but the good news is we are currently conducting a clinical trial that could help Wolfram patients. That event raised enough money to save the promising research being conducted by the late Dr. Alan Permutt. I felt such joy and inspiration, knowing that people cared and rallied around a small, unknown, “ultra rare” disease.
