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
Happy summer, all!
I am pleased to present the latest edition of Ataxia Med News.
If we haven’t had the chance to connect yet, my name is Aimee Alcott, NAF Research Coordinator. I work alongside my colleagues in the Research department to keep NAF connected with ataxia clinicians, scientists, and drug developers.
This past May, our team hosted the 3rd annual Ataxia Clinical Training (ACT) program in Orlando, FL. We were thrilled to welcome fantastic faculty as well as our largest cohort ever, united in the mission to advance ataxia diagnosis and care.
Over three days, participants engaged in expert lectures, panel discussions, clinical demonstrations, and networking opportunities. We even got to meet Bill Nye, the Science Guy! The highlight, as always, was connecting with the NAF patient and caregiver community; their insights ground our work and ultimately lead to better care for all ataxia patients.
This newsletter includes updated patient resources, NAF program announcements, and partner updates on recent developments in the ataxia research & drug development spaces. I hope you find these briefs valuable in your work. Please click around and reach out to our team with any questions at research@ataxia.org. Together, we can make a significant impact on the lives of those affected by ataxia.
In partnership,
Aimee Alcott
Research Services Coordinator
NAF Resources to Share with Patients
Exciting News For You to Share
Bill Nye has joined forces with NAF to launch the largest Ataxia awareness campaign ever to his 23 million+ followers. This presents a tremendous opportunity to raise awareness about Ataxia. We aim to make this our “Ice Bucket Challenge” moment, but we need your help!
Bill has posted the first video in a 4-part series. Please like, comment, and share each video on your page, or ask your institution to support Ataxia and share the videos. Engaging with his posts will improve their performance and help even more people see them, giving this campaign the best chance to go viral and receive major media attention. You can find the links to share each social media platform on our webpage. If your institution has questions about sharing the video, they can contact Stephanie Lucas, NAF Communications Director, at stephanie@ataxia.org.
No-Cost Genetic Testing Program for Friedreich Ataxia (FA) FAidentified
Sponsored by Biogen in partnership with Prevention Genetics, this program provides no-cost genetic testing for Friedreich ataxia (FA), a neurodegenerative disease characterized by progressive ataxia (ataxic gait and limbs), dysarthria, dysphagia, decreased proprioception, distal muscle weakness, peripheral sensory neuropathy, absent lower limb tendon reflexes, spasticity, scoliosis, pes cavus, and hypertrophic cardiomyopathy. No-cost FA testing is available for patients 16 years of age or older, suspected of or have a clinical diagnosis of FA, and be a resident of the United States or Puerto Rico. The test must be ordered by a qualified healthcare provider.
New Care Partners Webpage Recently Launched
Care Partners have an essential role in the lives of their loved ones with Ataxia. Whether you are a parent, spouse, or other care partner, this webpage will provide resources on a variety of caregiving topics, such as daily care, care planning, self-care, and other specialized subjects.
NAF Genetic Counseling and Testing Program Reaches 650 Appointments
Launched in February 2022, NAF’s Free Genetic Counseling and Testing program for individuals at risk for SCA1, 2, or 3 has facilitated over 650 virtual Genetic Counseling visits. Approximately 405 unique individuals have used this program and over 300 test results have been returned. NAF looks forward to continuing this mission-driven program. Print THIS HANDOUT to share with qualified patients.
Opportunities to Participate in Ataxia Research
Do you have patients who want to get involved in ataxia research studies? We have a list of interventional clinical trials, observational clinical trials, and basic research studies seeking participants with a variety of ataxia types. In-person and remote participation options available.
NAF Ataxia Brain Donation Program
The NAF Brain Donation Program is crucial in the quest to find a cure for Ataxia. By donating brain tissue, researchers gain invaluable insights into the underlying mechanisms of these conditions, which are often not well understood. This can lead to the development of targeted treatments and potentially life-saving therapies. Additionally, brain tissue donations help scientists study a wide range of Ataxia disorders and accelerate medical breakthroughs. Ultimately, these programs offer hope to patients and their families, paving the way for a future where Ataxia can be effectively treated or even cured.
Updated CRC-SCA Brochure Now Available for Sharing with Patients
An updated CRC-SCA brochure including our expanded eligibility criteria is now available to share with patients. This study is now open to those with a confirmed diagnosis of SCA27B or RFC1/CANVAS.
Click here to download the PDF.
Interested patients can also follow this link to use our CRC-SCA Eligibility Screening Tool.
New PreRARE Clinical Trial Educational Resources
Ataxia Health Practicitioner Headlines
Survey on Clinician Experience with Genetic Testing of Ataxia Patients
Researchers from the University of Michigan are seeking participants for a survey on clinician’s experiences of genetic testing of Ataxia patients. You can learn more about this study on the NAF website. You can access the survey at this link. This study has been approved by the University of Michigan IRB under project number HUM00255285.
thinkFA: Biogen Health Care Practitioner Resource Webpage
A series of awareness initiatives geared towards HCPs to help accelerate the diagnostic journey of patients with FA. There is a page dedicated to differential diagnosis, multidisciplinary care team, mFARS and disease progression.
Are You on the Map?
The 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, fill out this FORM.
Dr. Jeremy Schmahmann, Fogelman Chair of Ataxia at MGH and Founding Director of the MGH Ataxia Center, invites you to join the Ataxia Center Grand Rounds on Zoom
Dr. Jeremy Schmahmann, Fogelman Chair of Ataxia at MGH and Founding Director of the MGH Ataxia Center, invites you to join the Ataxia Center Grand Rounds on Zoom.
At the start of the pandemic in April 2020, the MGH clinical case conferences and seminars for neurologists training in Ataxia went virtual. The tradition continues on Zoom on the 1st and 3rd Thursdays of the month, noon to 1 pm Boston time. This interactive session, usually with a patient present, is intended for clinicians, scientists and trainees in the clinical and basic neurosciences who have an interest in ataxia and other disorders of the cerebellum. The conferences start up again in September. Get on the mailing list by emailing Jason MacMore, jmacmore@mgh.harvard.edu.
National Society of Genetic Counselors (NSGC) Ataxia Working Group Launched in May 2024
Approximately 15 NSGC members attended the first virtual Ataxia Working Group in May 2024. These meetings occur quarterly and NSGC members who are interested in the ataxias are welcome to join. Please contact Michelle Rochman, MS, LCGC if you are interested.
ICAR 2024: Register Now to Join Us in London
The 2024 International Congress for Ataxia Research (ICAR) conference will be hosted November 12-15 in London, UK. NAF, along with partner organizations Ataxia UK and the Friedreich Ataxia Research Alliance, is pleased to invite all interested ataxia researchers, clinicians, and allied industry partners to this biannual meeting. For more information and to register for the conference, please visit HERE.
News from NAF
Ataxia Clinical Training: Now Accepting Applications
NAF is excited to announce that ACT 2025 will be held in Las Vegas, Nevada March 27-29, 2025.
Interested in applying to be a member of the 2025 ACT cohort? Applications are now open! Please visit www.ataxia.org/act for additional course information and a link to the application form. A limited number of complimentary registrations are available for neurology residents and clinical fellows.
NAF Grants Program Updates
Our FY2025 Call for Letters of Intent is now open! NAF accepts research grant proposals for basic, translational and clinical ataxia research across all career stages. LOIs are due by September 6, 2024 via ProposalCentral. Please visit www.ataxia.org/researcher-resources for more information and details including updated eligibility guidelines for all our grant programs.
Science Showcase: NAF Funded Research Webinar Series
We are excited to launch our second annual Science Showcase series, highlighting cutting-edge ataxia research supported by the National Ataxia Foundation. Look for periodic invitations to land in your inbox beginning later this fall. Find more information and past presentations here.
Are you a past NAF grant awardee interested in presenting? Please reach out to Aimee Alcott, NAF Grants Manager, at aimee@ataxia.org to secure your spot.
6 New ACEs Named! Plus the Last Application Cycle of 2024 Now Open
Congratulations to the 6 clinics around the world that have earned the designation of NAF Ataxia Center of Excellence (ACE)! NAF is committed to helping you find quality care that you can count on. We only offer this prestigious designation to centers that offer comprehensive services from clinicians with specialized training/experience in treating Ataxia or movement disorders.
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 for the last cycle of 2024 designations are due September 30, 2024.
Find Us at Upcoming Conferences!
ICAR 2024 – NAF Accepted Posters
- Foundation-collected Patient Data Provide Epidemiological Insights for Ataxias
- Impact of foundation-sponsored Ataxia Clinical Training (ACT) program on health care professional (HCP) competence and confidence in ataxia care and diagnosis
- Foundation-sponsored Genetic Counseling and Testing Program for SCA Types 1, 2, & 3 Facilitates Patient Access, Understanding, and Decision Making
International Congress of Parkinson’s Disease and Movement Disorders (MDS) 2024
- Join us in the exhibitor hall to learn more about NAF services
2024 NAF AAC Awardees Named
Recipients are selected for their dedication, innovation, and passion for supporting the Ataxia community. They were presented with their awards at the 2024 Annual Ataxia Conference. Every year, we celebrate our research and clinical community’s remarkable contributions and achievements with the following awards: Rising Star in Research Award – Recognizes an early career researcher who has made an outstanding contribution to the field of Ataxia Research.
John W. Schut Research Achievement Award – Honors a researcher or clinician who has made significant contributions to the field of Ataxia research and has shown an immense commitment to improving the lives of Ataxia patients.
Check out the videos of the award presentations and learn more about each recipient below. |
4-Star Charity Navigator Rating Earned!
NAF earned a 4-star rating from Charity Navigator! It is the highest possible rating and indicates that our organization adheres to non-profit best practices and executes on our mission in a financially efficient way. Achieving a 4-star rating verifies that we exceed industry standards and outperform most charities in our area of work. This exceptional designation from Charity Navigator demonstrates our trustworthiness to the public. Approximately only a quarter of rated charities have achieved this distinction!
NAF Annual Report Released
We are thrilled to share our 2023 Annual Report, showcasing a year of significant progress and accomplishments at the National Ataxia Foundation.
Highlights from 2023:
- $2.7M+ invested in research and drug development.
- $1.2M+ invested in community services.
- 16 research grants awarded.
- 24 NAF Ataxia Centers of Excellence designated.
- 22% increase in membership.
- 400 individuals assisted with genetic counseling and testing.
- 2 new types of Ataxia added to the CRC-SCA natural history study.
- 1st ever Support Group Leader Summit.
Thank you for your continued support. These achievements reflect our commitment to accelerating the development of treatments and improving the lives of those living with Ataxia. We couldn’t do it without you!
Ataxia Discoveries
New Type of Cerebellar Ataxia Discovered
A team led by Professor Dr. Kurt-Wolfram Sühs from Hannover Medical School has identified a new, rapidly progressing form of Cerebellar Ataxia caused by a specific autoantibody, anti-DAGLA. This condition, affecting balance and coordination, was discovered in four patients exhibiting severe gait, speech, and vision disorders. Remarkably, three patients showed significant improvement after treatment with rituximab and anti-inflammatory drugs that target the pathogenic cells of the immune defense that form the anti-DAGLA autoantibodies and destroy the cerebellar cells. This discovery, detailed in the Journal of Neurology, Neurosurgery & Psychiatry, talks about the disease and how early detection is crucial for diagnosis and therapy.
SARA Scale Highlighted in Journal of Neurology
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Industry News
Lexeo Therapeutics Announces Positive Interim Phase 1/2 Clinical Date of LX2006 for the Treatment of Friedreich Ataxia Cardiomyopathy
Lexeo Therapeutics, Inc. announced positive interim data of LX2006 for the treatment of Friedreich ataxia (FA) cardiomyopathy. Across both the Lexeo SUNRISE-FA Phase 1/2 clinical trial (NCT05445323) and the Weill Cornell Medicine investigator-initiated Phase 1A trial (NCT05302271), LX2006 was well tolerated with no treatment-related serious adverse events, and clinically meaningful improvements in cardiac biomarkers were observed with increasing improvement over time.
Biohaven Provides Update on Troriluzole
As a result of regulatory interactions, Biohaven designed a new protocol to assess the effectiveness of troriluzole after 3 years of treatment in SCA. This new protocol, BHV4157-206-RWE (NCT06529146), uses real world evidence (“RWE”) of effectiveness using real-world data (“RWD”) sources to examine the treatment effects of troriluzole in SCA after up to 3 years of therapy compared to external control subjects collected from the US SCA Natural History cohort (“CRC-SCA”). The data analysis will incorporate new patient data that was previously unavailable and not analyzed in the prior FDA submission. The primary outcome measure for protocol BHV4157-206-RWE is the change from baseline on the f-SARA at 3 years. The protocol was designed to be consistent with FDA’s Guidance for Industry, “Considerations for the Use of Real-World Data and Real-World Evidence to Support Regulatory Decision Making for Drug and Biological Products.” The protocol and SAP were submitted and reviewed by FDA prior to database lock of newly available 3-year data. Topline data from this protocol is expected in the second half of 2024 and, if positive, could form the basis of a new drug application to the FDA. We will provide further updates on the SCA development program as warranted by any continued positive progress from the outcome of future regulatory interactions on this topic.
This new protocol is listed on ClinicalTrials.gov. Learn more.
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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