,

Dr. Cecile Delettre | Neuroscience Institute of Montpellier, France

Dr. Cecile Delettre

Neuroscience Institute of Montpellier, France

Recently we have identified a family of molecules with the capacity to stimulate significantly the growth of retinal ganglion cells in vitro in a model of optic atrophy. We developed a zebrafish model with an optic atrophy and we have treated these fishes with one of these molecule. We used increasing doses of molecules to measure the toxicity and determine the most effective dose to protect the optic nerve. We have determined the dose with the best effect and confirmed that treatment with this molecule can prevent optic nerve developmental delay in vivo in our model of optic neuropathy. We are studding the mechanism of action of this molecule and using it in several model of Wolfram syndrome We look forward to a clear indication of the possibility of using this molecule in the future development of a treatment for Wolfram syndrome.

Read more

/by
,

Dr. Fumihiko Urano | Washington University School of Medicine, USA | Prilenia Therapeutics


Dr. Fumihiko Urano

Washington University School of Medicine, USA

Dear Friends,

Thank you sincerely for your invaluable support of our collaborative study alongside Prilenia Therapeutics. 

One promising candidate is the Sigma 1 receptor, and we have initiated a collaboration with Prilenia, a biotech company specializing in this field. Together, we are investigating the effects of a drug called pridopidine, which targets the Sigma 1 receptor, in cellular models of Wolfram syndrome. We are grateful to the Snow Foundation in collaboration with Ellie White Foundation for their generous donations, which enables us to conduct this crucial study using cells derived from Wolfram syndrome patients. The study is currently in progress as we explore various experimental conditions to assess the efficacy of pridopidine. We are committed to providing you with regular updates on our progress.

Read more

/by
,

Dr. Benjamin Delprat | University of Montpellier, France

Dr. Benjamin Delprat

University of Montpellier, France

 

In my lab, we are developing concomitantly two therapeutic strategies: a pharmacological approach and a gene therapy. To achieve these goals, we are working with suited animal models: two transgenic mouse lines and one zebrafish line. One mouse model and the zebrafish line are deficient for Wolframin, the protein responsible for Wolfram syndrome type 1. The other mouse model has been genetically engineered to mimic a human mutation, recapitulating sensorial deficits (vision and hearing loss) and diabetes. We are hoping to treat vision and hearing, as well as central neurodegeneration.

Read more

/by
,

Dr. Timothy Barrett’s Update | University of Birmingham, United Kingdom

Treat Wolfram

Dr. Timothy Barrett’s Update | University of Birmingham, United Kingdom

Dear friends and colleagues,

I hope everyone is keeping OK. I have 3 items to update you on.

Firstly, the TREATWOLFRAM trial is continuing to progress well. We had an independent Data Monitoring Committee meeting in January. This is chaired by Professor Karen Morrison, an honorary consultant in adult neurology, who previously led the highly specialised service for adults with Wolfram syndrome. The Data Monitoring Committee reviewed the unblinded data. I am pleased to say that they had no safety concerns, and were happy for the trial to continue to completion. Following this meeting, our Trial Steering Committee met, chaired by Professor Marc Peschanski, Director of INSERM, a large research institute outside Paris. We discussed the trial progress so far, and plans for acting on the results at the end of the trial. The last participant will complete the trial at the end of October 2024. We will then have 2-3 months to collect any outstanding data from study sites. The Clinical Trials Unit… read in full here.

/by

AMYLYX PHARMACEUTICALS Helios Update

AMYLYX PHARMACEUTICALS
Helios Update

Earlier in February 2024, Amylyx Pharmaceuticals announced that enrollment was completed in the Phase 2 HELIOS clinical trial of AMX0035 (sodium phenylbutyrate and taurursodiol) for the treatment of Wolfram syndrome.

HELIOS is a 48-week exploratory, open-label proof of biology study assessing the effect of AMX0035 on a number of measures, including pancreatic function (mainly pertaining to diabetes), visual function, and Wolfram syndrome disease rating instruments.

The study, being conducted at Washington University in St. Louis, has enrolled 12 adult participants living with Wolfram syndrome, and preliminary results are anticipated in the second half of 2024. Data from this initial study will play an important role in giving Amylyx information needed to make decisions for potential future trials. Amylyx looks forward to sharing the results with the community, including at scientific meetings, when they are available.

/by

Thank you to McCarthy Building Company for raising money for TSF

McCarthy Building Company’s annual Dan Licari Memorial Fishing Tournament raised $13,445.00 for the Snow Foundation to support the Bieser family in their fight against Wolfram Syndrome.. THANK YOU!!!!

/by

2024 Support Drive, could you help?

2024 Support Drive, could you help?

This year, we are funding four projects worth almost $400,000.
Please donate today to support our community. Your gift will make a significant difference and help us achieve our goal.
For More Information: https://thesnowfoundation.org/2024-support-drive-could-you-help/

 

https://thesnowfoundation.org/donate/

Paypal-donate-QR-Code

 

/by

SAVE THE DATE APRIL 13TH, Wolfram Syndrome Global Virtual Conference RESEARCH UPDATES

Join the virtual conference The Snow Foundation and Wolfram Syndrome UK will host on April 13th.The conference will feature four presentations starting at 2:00 pm (BST). Details about the program and registration links will be forthcoming. This bi-annual event aims to educate everyone about the latest research on Wolfram Syndrome.

/by

Quest for a Cure across the globe

The Snow Foundation is grateful for the support it has received from people around the world. We would like to express our appreciation to Markus Klasenar for putting us on the map in Germany. Thanks to their fundraising efforts, we have raised 2,650 euros for our Quest for A Cure!

/by
,

Groundbreaking research of Dr. Fumihiko Urano at Washington University School of Medicine, USA

Dr. Fumihiko Urano Washington University School of Medicine, USA

Dr. Fumihiko Urano

Washington University School of Medicine, USA

Dear Friends,

 

I want to take a moment to express my deep gratitude for your unwavering belief in and support of our mission to find a cure for Wolfram syndrome. Your enduring encouragement has been a beacon of hope guiding us on this remarkable journey. As we embark on the year 2024, filled with hope and determination to inch closer to our goal of finding a cure, I would like to provide a summary of our progress in the battle against Wolfram syndrome.

 

Rare Disease Day at NIH 2024

Before I delve into our progress update, I’m excited to share some fantastic news with you. I’ve received an invitation to present our research on Wolfram Syndrome at the Rare Disease Day event held at the National Institutes of Health on February 29, 2024. This event is widely regarded as one of the most prestigious gatherings for rare diseases, offering an excellent platform for us to raise awareness about Wolfram Syndrome. Even if you can’t attend in person, you can still participate by watching my presentation remotely. Here is the link to access it: https://ncats.nih.gov/news-events/events/rdd

Read more

/by