Actualizado: 9 de ene de 2020
Get ready for an incredible year and a new decade that will bring hope, challenges, and real progress.
Cure MLD was only launched in July and yet we can't help but think our work has made an impact. In the last seven months Cure MLD has spoken to families around the globe including Brazil, Turkey, Slovenia, Pakistan, India, England, Poland, Germany, New Zealand, Australia, South Africa and all over the US (including Alaska).
We sent out 50 care packages
Provided $6000 in travel grants
Published the Living with Leukodystrophy guide
Launched an online support group with psychologist Dr. Al Freedman
Met with the FDA
Hosted a global stakeholders meeting for MLD leaders,
Sponsored a meeting with doctors in New York to create a standards of care protocol for MLD newborn screening families
And our new website has received rave reviews.
In 2020, we will see a pilot study for MLD newborn screening launch in New York state over the next five years. With Orchard Therapeutics' filing in the EMA, we could see the EU grant approval for a gene therapy to treat MLD by August 2020. This would be a historic achievement. In the US, just 5 percent of rare diseases have commercially available treatments. There is no question that Telethon and Orchard's collaboration on gene therapy represents one of the biggest medical breakthroughs in a generation that offers hope to patients suffering from devastating monogenic disorders like MLD. We here at Cure MLD are honored to have been given front-row seats to this pioneering effort.
But there are other companies also developing new treatments, and we have been so proud of the brave MLD families around the globe who are participating in the Takeda enzyme replacement therapy clinical trial. The ERT families have made incredible sacrifices to support this work and we are grateful for our partners at Takeda for the hope ERT offers our community.
We also learned that Magenta had opened a new trial for bone marrow transplant patients and Homology is moving forward on their own clinical gene therapy clinical trial. You cannot help but be inspired by the passion of doctors and scientists working to develop new treatments for MLD patients.
We are so proud of our partners at GLIA who were awarded a $5 million grant from the NIH to launch a multi-year leukodystrophy research collaboration. We will be working with our friends at the Children's Hospital of Philadelphia on a MLD disease burden study to create a clearer understanding of how MLD impacts patients and families. We are confident this paper will be crucial for researchers and regulators who want to develop meaningful primary efficacy points, but we also believe the findings will aid payers who are working to understand the value of medical treatments for MLD. And with the help of our patient families, the natural history of MLD patients has gone from 100 to 200 patients. Dr. Adang, who oversees the natural history at CHOP, now has set a new goal of 300 patient families. This natural history will be a critical tool for researchers and regulators.
It is fitting that on Rare Disease Day (February 28th), Cure MLD will be in New York City meeting with doctors and other patient advocacy leaders to develop an action plan for our MLD newborn screening families.
We have also been so excited to hear from patient families, we have spoken to dozens of you over the last few months. You have shared your struggles, offered your talents and inspired us to keep working. This Rare Disease Day, we invite MLD patient families to consider hosting fundraisers or events in schools or work to talk about how rare disease impacts your family. You can set up a jar for Cure MLD or even read our children's books about leukodystrophy and gene therapy to talk about MLD to friends, colleagues or your child's classmates.
The new decade marks a new era for our community. And we are proud and honored and humbled to be on this journey with our amazing families who inspire us each and every day. We have made so much progress, but there is still so much work to be done.