This is a periodic newsletter for Ataxia clinicians to keep them up-to-date on patient resources and other medical news. To begin receiving this newsletter, join as a professional member of NAF at www.ataxia.org/JoinNAF.
Hello from NAF's Clinical Services Team
Hello Ataxia Health Professionals,
As we welcome Spring here in Minnesota, we also welcome a new NAF Clinical Services Team Member. Laura Crespo recently joined the team as the NAF Clinical Research Coordinator. Laura comes with 7+ years of clinical coordinator experience and her position will primarily focus on NAF’s Natural History Study: The Clinical Research Consortium of the Study of Cerebellar Ataxias (CRC-SCA). It has been a lot of fun to share more about NAF and the CRC-SCA during Laura’s onboarding. Please feel free to reach out to Laura@ataxia.org if you want to learn more about CRC-SCA.
Ataxia Med News is intended to be a quick read for health practitioners that specialize in ataxia clinical care. We understand the need for patient-facing resources available at your fingertips. Scroll down to find exactly that.
Feel free to share suggestions with us about how to improve this newsletter or the recently launched Provider Resources NAF webpage.
Be well,kelsey@ataxia.org
NAF Resources to Share with Patients
New Ataxias Genetic Counseling and Testing Webpage
Our new and improved webpage is a resource hub for all aspects of ataxia genetics. This content was made in conjunction with certified genetic counselors, neurologists, and ataxia community members.
Ataxia Resources in Spanish
We are in the process of expanding our Ataxia education resources in other languages. Check out our currently available Spanish offerings.
Ataxia Patient Registries
One way for patients to get involved in Ataxia research is to sign up to a Patient Registry. This explainer article helps shed light on what Patient Registries are and why they matter. Did we miss an Ataxia patient registry on our list? Please let us know!
Newly Diagnosed Resource Sheet
Did you know the NAF website has a one-pager for patients who are newly diagnosed with Ataxia? It is full of helpful resources and can be downloaded for sharing.
Ataxia Health Practicitioner Headlines
Attention Ataxia Researchers: "Hereditary Ataxia" is in the FY24 CDMRP
FARA and NAF are delighted to announce that “Hereditary Ataxia” was included under the Peer Review Medical Research Program (PRMRP) within the Congressionally Directed Medical Research Programs (CDMRP) in the Fiscal Year ‘24 budget.
Time-Sensitive Information on Funding Opportunity: Applications for CDMRP/PRMRP grants have opened! Deadlines for letters of intent are May 6 and May 13 depending on the grant mechanism.
ICAR 2024: Join NAF and Partner Organizations in London
Ataxia UK, alongside NAF, FARA, and AGI, is excited to welcome ataxia researchers, clinicians and industry partners to ICAR 2024 November 12-15 in London, UK.
More details are available at the conference website or email conference@ataxia.org.uk.
Child Neurology Foundation (CNF) Family Support Program
CNF has a Family Support Program to help families and children living with neurologic conditions. Trained staff are available to help with things like: navigating insurance questions, finding food assistance programs, and learning about clinical trials. If you would like CNF to present more details to your clinic, contact Kim Hindery at khindery@childneurologyfoundation.org to schedule a virtual meeting. Brochures with more information can be found in English and Spanish here:
Are you on the Ataxia Specialty Clinic Resource Map?
The Ataxia Specialty Clinic Resource Map, curated by NAF, serves as a centralized location for individuals affected by Ataxias to access options for specialized medical care. If you aren’t listed and would like to be, fill out the below form.
CureDRPLA Introduces DRPLA Centers of Excellence
CureDRPLA has launched DRPLA Centers of Excellence. This designation is given to neurologists who have experience in DRPLA care. The goal is to make it easier for families to identify clinical experts in DRPLA for their healthcare needs.
Under Construction: NAF Provider Resources Page
NAF recently launched a Healthcare Providers Resources Webpage. We recognize that resources are always changing, and we are working hard to offer additional and improved resources over the next few years. We would appreciate your feedback and suggestions as you explore the new webpage.
Learn More about Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)
Fragile X–associated tremor/ataxia syndrome or FXTAS is an adult-onset neurodegenerative disorder, more common in males than females over 50 years of age with the Fragile X premutation. FXTAS is associated with tremors, balance problems, and other neurological signs. FXTAS progresses at varying rates in different individuals. Stay up to date with FXTAS research and treatment development by connecting with the National Fragile X Foundation, more info can be found below.
COMING SOON: Evaluation of Upper Limb Ataxia Webinar
Watch your emails to sign up for a summer webinar presented by Elizabeth Foss, an occupational therapist who specializes in working with neurological populations.
Pertinent Updates on NAF Programs
NAF Genetic Counseling and Testing Initiative Reaches Two Year Milestone
During the first two years of service, the program has facilitated 490 Genetic Counseling sessions (319 pre-test counseling and 171 post-test counseling) and provided genetic test results to 219 people. Overall, anonymous survey results indicate participants are highly satisfied with this program, gained helpful information, and would recommend the program to family members. |
CRC-SCA Natural History Study Now Enrolling SCA27B and RFC1 Patients
2024 is shaping up to be an exciting year for the CRC-SCA with new study designs. The natural history study is now open for enrollment to patients with RFC1 Ataxia/CANVAS and SCA27B. A new MR imaging sub-study, led by the University of Minnesota, will soon be looking for SCA 1, 2, and 3 eligible participants.
As of April 1st, 989 participants have been enrolled in the study and completed baseline visit activities. In addition to clinical data, the study has also turned its attention to collecting biospecimen samples annually for all patient participants. The BioSEND biorepository currently houses over 60 CSF samples and over 300 samples each of whole blood, plasma, and serum collected from study patients.
If you are an investigator interested in obtaining CRC-SCA biospecimens, follow this link to learn more on how to request access.
NAF Research Developments
Thanks to the generous support of NAF donors, our organization has funded promising research in ataxia from investigators around the globe through our research grants program. NAF continues to collect outcomes data from past awardees annually.
2023 highlights include:
- Over $4,000,000 in further funding generated
- 62 publications
- 15 invited presentations
2024 Ataxia Centers of Excellence Application Now Open
NAF’s Ataxia Centers of Excellence (ACE) program designates exceptional regional centers providing comprehensive care and services for individuals affected by Ataxia and their families. The Centers should be engaged in clinical research and/or clinical trials, provide professional and lay education to patients and their families in the areas they serve, and work with NAF locally and nationally in its efforts to continually improve the lives of those affected by Ataxia. Applications are due May 31st! |
NAF Research Grants: Look Back, Look Ahead
The 2023-2024 grants cycle was our most competitive yet. NAF funded 18 proposals—the highest annual total awarded in our program’s history! Please visit our Funded Research page for details on each investigator’s project.
The 2024-2025 grants cycle is ramping up. Please watch our website for updates coming later this spring.
NAF Poster Presentations at AAN Annual Meeting
The NAF Research Team presented two posters at the AAN meeting in Denver, Colorado. Check out the links below to view the posters in detail.
- Completion of Foundation-sponsored Ataxia Clinical Training (ACT) Program Improves Fellows’ Competence and Confidence in Ataxia Care and Diagnosis
- Foundation Sponsored Genetic Counseling and Testing Program for Spinocerebellar Ataxia (SCA) Types 1, 2, and 3: Analysis of the First Two Years of Service
Ataxia Discoveries
Gene Discovery: SCA4
An exonic GGC trinucleotide repeat expansion in ZFHX3 causes Spinocerebellar Ataxia type 4.
Gene Discovery: SCA50
Missense mutations in NPTX1 causes Spinocerebellar Ataxia type 50
Industry News
Stay Up to Date with Ataxia Pharma News
Visit NAF’s Breaking Pharma News Page to stay informed about the latest in Ataxia drug development. It is updated upon press releases in the Ataxia space. |
NAF's Treatment Pipelines Were Recently Updated
Our Research team recently updated the Ataxia Treatment Pipelines on our website to ensure that you have access to the most up-to-date information available. The pipeline includes information for each type of Ataxia that currently has therapies in development.
Connect with NAF
Call for Writers: Ataxia Genetic Counseling and Testing Webpage
We are looking for blog post writers with backgrounds in genetic counseling, medical genetics, or molecular genetics who would be interested in contributing ongoing updates to our new genetics resources page. Blog posts are based on patient questions, and are 500 words or less. Writing timelines and deadlines are flexible. If you are interested in learning more, please contact Dr. Celeste Suart at celeste@ataxia.org for details.
Science Showcase: Dive Deep into NAF Funded Research
You are cordially invited to NAF’s monthly webinar series highlighting cutting-edge Ataxia research supported by NAF’s grants program. View past presentations and upcoming talks here. Please contact Aimee Alcott, NAF Research Services Associate at aimee@ataxia.org if you are a past awardee interested in presenting.
NAF Support Groups are Always Looking for Volunteer Guest Speakers
The NAF Community Services Department manages a Guest Speaker Resource List, a tool to connect support group leaders with experts in various fields. Many support groups meet virtually and at various days and times. A typical time commitment for a guest speaker is 30-60 minutes.
Only support group leaders are granted access to this contact list to ask about presentation opportunities. If you would like to be added as a potential guest speaker and allow support group leaders to reach out to you, please contact NAF’s Community Services Coordinator, Sarah Pilato at sarah@ataxia.org.
Join the mailing list to receive future Ataxia Med News.
This is a new periodic newsletter for Ataxia clinicians to keep them up-to-date on patient resources and other medical news. To begin receiving this newsletter, join as a professional member of NAF at www.ataxia.org/JoinNAF. It’s free!
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