In the latest webinar of the series, “Amplifying the NM Community’s Voice”, we were joined by peers and Nemaline Myopathy (NM) experts to better understand challenges and opportunities related to NM, identifying priorities and ultimately advancing research.
Watch the full webinar to hear all the insight, announcements and feedback from peers and clinicians:
NM Natural History Study Announcement
AFBS founder and Executive Director, Marc Guillet, began the webinar by sharing a monumental announcement for the NM community. AFBS has committed to funding $1 million toward a Natural History Study. A Natural History Study (NHS) collects information about an affected population to record what the disease course entails when no intervention is performed. Basically, it answers the question, what is the natural course of the disease without treatment? A NHS is a critical step in supporting the clinical research community and the FDA, to better understand the disease. A NHS for NM is an essential first step to ultimately bringing therapies to patients.
With Stanford Health Care at the helm, in partnership with 5 other geographically dispersed medical centers in the United States and Canada, the NHS will enroll participants ages 0-16 years old, to track the developmental time period when changes which occur most rapidly among those with NM. This is a vital step in the process of bringing therapies to people with NM. Stay tuned for the next steps in the coming months.
Importance of Registering in the CMDIR
Marc also emphasized the importance of people with NM registering in the international registry, Congenital Muscular Disease International Registry (CMDIR). Greater participation in the registry shows future investors, such as pharmaceutical companies, that we have strong representation in the NM community, leading us to investments in future therapies down the road. Registering in the CMDIR may also give registrants notice of opportunities to enroll in studies such as those examining the natural course of the disease and clinical trials. Contact Noah Fryou at Noah.Fryou@cmdir.org for assistance or questions.
New to the CMDIR?
Visit www.cmdir.org, enter your email address, create a password, then complete these steps:
- Step 1: Registry consent form; click “yes” if you want to join
- Step 2: Enter your basic info; click “Save”
- Step 3: Click “Data Sharing Opt-Ins”. Those relevant to NM are Beggs Lab and AFBS; click “yes” if you agree
- Click “Save and Continue” then click “Submit Survey”.
Returning to the CMDIR?
If you haven’t updated your profile since 2021, you will need to update your profile by visiting www.cmdir.org, and following these steps:
- Step 1: Click on the “Forgot Password” button
- Step 2: Get the link that’s sent to your inbox and create a new password
- Step 3: Log in with new password at cmdir.org
- Step 4: See registry consent form; click “yes” if you want to join
- Step 5: Follow the same steps listed above
Genetic Testing Resource
The Rare Genomes Project is a free genetic testing resource for those living in the US suspected of having a rare disease, who do not yet have genetic confirmation of their subtype (including VUS and results that do not match the patient’s symptoms). We encourage the NM community to take advantage of this free program while it lasts. No referral is needed. No health insurance is required. The blood draw is done locally. Findings are reported to your physician who then orders clinical confirmation, with results reported to you through your physician.
To apply, visit raregenomes.org/how-it-works.
Research Priorities for the NM Community
Members from the NM community shared their input on problematic areas related to NM:
- Breathing impairment
- Fatigue
- Soreness
- Walking/endurance impairment
- Speaking impairment
- Swallowing impairment
- Cough weakness
This feedback will be compiled and used as a guide for research priorities.
Next Steps
- Complete the post-webinar survey.
- Update or Set Up Your Registry Profile: Need help? Contact Noah Fryou, our NM Registry Specialist, at NoahFryou@cmdir.org
- Get FREE Genetic Testing to Confirm Your NM Subtype: Go to raregenomes.org/how-it-works to get started
- Consider Tissue Donation: Contact Stacy Cossette at Stacy.Cossette@childrens.harvard.edu for more information.
Thank you for contributing to NM research progress!