Triple Play and Giving Tuesday Gratitude

We give our sincere, heartfelt gratitude to everyone who donated on Giving Tuesday! We raised ~$40K! We’re still a ways off from our year-end goal of $100k, so please consider a gift if you have not given already. We have critical projects ahead of us: establishing programs that will support drug development; continuing the expansion of a GM1 patient registry and biospecimen collection; and efforts to improve newborn screening to name just a few.

To see more about the important work we do and the community we serve, please watch and share our 2023 conference highlights video:

Your donation will support these projects and will uplift many families with hope and optimism for the future. When you donate by December 31st, you will also benefit by earning a tax write-off. Let’s finish the year off strong. Please give today.

Wish Upon a Star

Help us envision a beautiful future for GM1 by wishing on a star. Some wish examples from last year are:

“I wish my son was still here. He had GM1 Type 1 and only lived to 18 months.”

“I wish for a cure for all children with GM1 so no one has to wonder if this is their child’s last year.”

Add your voice to theirs. Let us know your greatest hope for your GM1 loved one, and we will hang it amongst the constellation of wishes for the GM1 community to read and share. All wishes are anonymous. Send in yours here.

xCures Pilot Study 

Cure GM1 is proud to announce a unique collaboration with xCures for the development of a new rare disease pilot for an electronic natural history study for GM1 gangliosidosis.

xCures enables patients to contribute their medical records for research by connecting them and their treating physicians to services, including clinical programs (e.g., clinical trials, patient support programs and observational studies). Through the xINFORM portal, patients automatically get all their medical records in one place and instantly receive a care summary to support clinical decisions and care. As a derivative of these services, xCures creates data that can be leveraged and licensed for clinical research.

While xCures’ initial focus has been in oncology, Cure GM1 and xCures are excited to initiate a new collaboration to help develop a special rare disease protocol for GM1 gangliosidosis, which may be broadly applicable to similar neurologic and degenerative diseases.

For GM1 families and rare disease organizations, this new foray will expand the access to and organization of meaningful, regulatory-grade, source-verified, rare-disease data.

Cure GM1 has signed onto proposed NORD legislation to support revisions to the Inflation Reduction Act. As currently written, “The Inflation Reduction Act will impact rare disease patients in a variety of ways, some overarchingly positive, while for others the impact remains to be seen. One clear concern: the law strongly disincentivizes future research into rare diseases — but two common-sense technical corrections would fix this issue and restore hope for the 95% of rare diseases that currently lack FDA approved therapies.” – Karen Hoelzer at NORD

Rafael Escandon, MPH, PhD, who started as a scientific advisor for Cure GM1, has joined our board! He has worked in global clinical research and development and patient advocacy in the biotechnology industry for three decades and is currently a consultant to the biotechnology industry. His approach is to be highly considerate of the ethical implications of conducting and participating in clinical research, especially with advanced therapies in rare conditions, as well as in vulnerable and developing-world populations.

He has been a member of the NYU Grossman School of Medicine’s Department of Bioethics Pediatric Gene Therapy Medical Ethics Working Group (PGTME) since 2019. He is a contributing graduate faculty member in Pediatric Bioethics at the Children’s Mercy Bioethics Center in Kansas City Missouri. Rafa has also served as adjunct faculty at the University of California Berkeley’s Clinical Research Management Program and as an educator in human rights and justice. He holds graduate degrees from the University of Maryland at Baltimore, Walden University of Minnesota, and the Johns Hopkins Bloomberg School of Public Health. He is also a certified healthcare ethics consultant. We look forward to his expert guidance and support.

  • Passage Bio expects to report initial safety and biomarker data from Dose 3 patients in global Phase 1/2 Imagine-1 clinical trial for GM1 gangliosidosis in mid-2024. Read the press release here.
  • Gain Therapeutics announces preclinical mouse study data showing restoration of enzymatic function with novel allosteric regulators in GM1 gangliosidosis model. Read the press release here. 

Much to be Thankful For

  • Thank you to those in the UK who put on and participated in the Dorney Lake Run fundraiser in honor of Theo! They raised over £20,000 for Cure GM1!
  • Thank you Fiona’s Kindness Project for putting on your annual Egg Roll Fundraiser and donating part of the proceeds to Cure GM1!
  • Thank you Fundraising for Florence for reaching out and getting featured in your local press for meeting with your mayor and earning “‘Certificates of Achievement’ on behalf of the work they have undertaken and funds they have raised”. The awareness you spread has a big impact on the progress for GM1!
  • Thank you to a generous anonymous donor who has donated $60,000 to Cure GM1. We are thrilled, honored, and so very grateful to receive this major gift. These funds are earmarked for an exciting to-be-announced research project.
  • In recognition of National Caregivers Month, which takes place each November, we’d like to thank all caregivers for the unending work you do to love and care for the person(s) in your life with GM1. They would be nowhere without you.
  • Thank you to everyone who donated in honor of Violet in lieu of flowers. We’re incredibly saddened that such a precious girl passed away. We are committed to making progress in her honor.
  • A last thank you to Cure Kinley & Kennedy and to all the participants of clinical trials. Kinley and Kennedy are in their 3rd year of involvement with their gene therapy trial. We cannot say how grateful we are. Your participation in the scientific process will bring everyone with this terrible disease closer to effective treatments and therapies.

Are you a photographer? Help spread awareness of GM1 gangliosidosis by entering the Black Pearl photography contest. “The EURORDIS Photo Award is an opportunity to visually express what it means to live with a rare disease and to share your story with the rare disease community and beyond.” The top three finalists will receive a prize!

The annual Compassionate Friends Virtual Worldwide Candle Lighting will take place on Sunday, December 10th at 7:00 PM this year. Join others in the community to light candles in honor of those we’ve lost to GM1.

We are putting together our annual memorial video to honor everyone who passed away this year due to GM1. If your loved one has passed away, and we have not contacted you, and you would like them to be included in this video, please contact info@curegm1.org by noon on December 8th.

Support Cure GM1 this Gift-Giving Season

Take advantage of the many avenues available to support GM1 when shopping for gifts this holiday season! 

Happy Birthday!

  • Luca – Nov 4th
  • Dean –  Nov 12th
  • Trevor – Nov 13th
  • Lindsey – Nov 23rd

Angel Wings

Sadly, on November 11, Sweet Violet gained her angel wings. She was a beautiful soul and a loving presence for her family. “Violet’s short and beautiful life was full of laughter, smiles, swimming adventures, Disneyland trips, music festivals, friends, family, and fulfilling her destiny that was written in the Stars.” Her parents are dedicated to continuing their advocacy work in her honor. May her memory live on in all they do.

Two other precious children have also gained their angel wings in a short time: Haaniya on October 17th and Afnan on November 12th. These losses are heartbreaking and something no parent should have to endure. They were loved deeply, and are missed deeply. We will forever remember them and keep them in our hearts. 

Ways to Give – Your Support Matters

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Visit our Take Action page for more ways to support our community