Dear friends,
It is almost time for the 3rd United Against Ataxia Hill Day! NAF along with FARA invite YOU to participate in raising awareness of Ataxia and supporting legislation that directly impacts our communities.
Hill Day takes place on September 29th and is a virtual event, so any U.S. resident can participate; all it takes is a computer and an Internet connection!
At Hill Day, a group of advocates (you) meet with Congressional Members to discuss topics that are important to the community. The topics this year include:
-
A Senate Resolution to declare September 25th as National Ataxia Awareness Day (S.Res. 339)
- The addition of "Hereditary Ataxia" into the Congressionally Directed Medical Research Program (CDMRP)
-
Accelerating Access to Critical Therapies (ACT) for ALS (H.R. 3537/S. 1813).
If you have never attended a Hill Day in the past, no worries! NAF and FARA have put together training sessions before the big day to ensure all advocates are prepared to discuss all topics. Register today by clicking the button below. Registration closes on September 20, 2021.
|
|
Sincerely,
Jen
Jen Farmer,
Chief Executive Officer
|
|
FARA Newly Funded Research |
|
Testing whether somatic GAA expansions are a therapeutic target for FRDA
Ricardo Mouro Pinto, PhD – Massachusetts General Hospital, Harvard Medical School & Caroline Benn, PhD – LoQus23 Therapeutics
The GAA expansion in FRDA causes a decrease in the production of the frataxin protein, which leads to problems with energy generation in the cell. The inherited GAA repeats undergo even further expansion in some parts of the body, in a process called “somatic instability”. The question is whether somatic instability, by inducing longer repeat tracts, reduces frataxin production even further, making matters much worse in tissues such as the heart and dorsal root ganglia. To test this, Dr. Mouro Pinto and his collaborators will use an FRDA mouse model of somatic instability, in combination with patient-derived cell systems. The information obtained from this project is crucial to understanding whether drugs targeting somatic instability will make a viable therapeutic strategy to treat FRDA.
Supported by The Crisp Family
Postdoctoral Fellowship
Pathophysiology of Muscle Dysfunction in Friedreich’s Ataxia
Chen Liang, PhD - University of Rochester
FA is associated with significant muscle wasting and weakness. Given that skeletal muscle plays a critical role in movement and daily activity, there is a pressing need to enhance our understanding of how altered skeletal muscle function contributes to the development and progression of FA. Dr. Liang will generate two new mouse models of FA that will enable detailed analyses of the role of Fxn in muscle development and function, as well as the acute effect on muscle function of Fxn deficiency in adulthood. These mouse models will also be used to identify and test the efficacy of new interventions designed to counteract the deficits that result from Fxn deficiency during development and adulthood.
|
|
Upcoming Grassroots Events |
|
TRACK-FA Webinar
Join FARA and Dr. Nellie Georgio-Karistianis from Monash University in Australia on September 20th at 7pm (ET) for the TRACK-FA Study webinar.
The TRACK-FA Study is designed to be an extensive international multi-centre neuroimaging study in FA to include 200 children and adults. The study will have evaluations occurring over two years and differences in the brain and spinal cord will be monitored as compared to 100 matched controls, which can be unaffected siblings of the study participants. The TRACK-FA study aims to improve understanding of the natural disease history of FA in the central nervous system, validate neuroimaging measurements in FA to deliver a set of trial-ready biomarkers, and develop a comprehensive database to facilitate ongoing community research and discovery. Click here for more information and to register.
|
|
Roadmap to Readiness- Gene Therapy
In preparation for potential clinical trials for gene therapy in 2022, FARA has developed educational modules to assist the FA community for this approach to treatment.
There are complex issues to consider that are different from the issues in traditional investigational drug trials. FARA invites you to engage in reviewing several education modules. Each module is self-paced and includes check-in exercises or worksheets to confirm your understanding and to allow you to keep this information for future reference.
We are excited to bring you this education and welcome your feedback! Information on clinical trials and gene therapy education can be accessed here: https://curefa.org/trial
|
|
FA Symposium
The Friedreich's Ataxia Research Alliance (FARA) and the Friedreich’s Ataxia Center of Excellence at Children’s Hospital of Philadelphia (CHOP) are pleased to present this hybrid in-person and virtual symposium providing patients and families with up-to-date information about therapeutic approaches and current research in Friedreich’s ataxia.
This one-day symposium will be held on Sunday, October 10, 2021 in- person at the Crowne Plaza in King of Prussia, PA, and it will also live streamed. The symposium will be from 8:30 am - 4:30 pm. Click here for more information and to register.
Please note: All in-person attendees will be required to mask for this event.
|
|
The FARA Energy Ball is in a little over a week, and you can join the party from home on September 25th!
Whether you wish to tune into the livestream with a few family members or throw a party for your community, we welcome you to engage with the energy of this event!
|
|
rideATAXIA Philly is back! Join us for the in-person ride on Saturday, October 9th in Harleysville, PA at the LBCB Church: BranchCreek Campus. We will have 1, 3, 6, 21, and 46-mile biking routes along with a lunch provided by Outback Steakhouse. You can register today by clicking the button below.
Along with Philly, the rideATAXIA Global Challenge returns for its second year! This virtual event will take place from September 28 - October 9, with ride day planned for the same day as rideATAXIA Philly.
|
|
|
|
rideATAXIA Dallas returns on November 6th! Join us in person at UNT Discovery Park in Denton, Texas.
We will have 6, 25, and 50-mile bike rides, a delicious post-ride meal provided by Outback Steakhouse, along with great times with our good friends in Texas.
|
|
*This study has new expanded inclusion criteria*
27 FA participants and 17 unaffected siblings are needed to fill this study by the end of 2021. The outcomes of this study are critical for allowing remote data collection during future clinical trials.
Eligibility criteria include:
· Early-onset participants - 12-30 years of age with FA-onset between age 5-25
· Late-onset participants - 26-60 years of age with FA-onset between age 25-40
· Participants must be able to walk 10-yards independently, without an assistive device.
· Participants can be involved in an investigational drug trial and still be eligible for the IDEA study.
The IDEA research study is testing body-worn sensors to measure movement. The goal of the study is to evaluate progression and severity of ataxia. The study involves visits every 6 months over 2 years at a clinic site. Involvement in the study provides compensation for travel and an Apple watch.
Participants are needed at all clinic sites in Baltimore (Johns Hopkins), Boston (MGH), Chicago (University of Chicago), Los Angeles (UCLA) or Portland (Oregon Health & Science University).
For additional eligibility criteria, please contact study coordinator Hannah Casey (hannahcasey@uchicago.edu) or (773) 702-4610. Please specify your city of interest for enrollment - Baltimore, Boston, Chicago, Los Angeles or Portland (OR).
|
|
To learn more about the study and determine your eligibility, contact the study coordinator, Anna DeDio, by email dedioa@email.chop.edu or by phone
(267) 425-1998.
|
|
Enrollment now open at University of Iowa, University of South Florida, UCLA, Children’s Hospital of Philadelphia (CHOP), University of Florida/Gainesville, Murdoch Children’s Research Institute (Australia), CHUM (Canada), CHU Sainte-Justine (Canada), University of Campinas (Brazil), Hospital Sant Joan de Déu Barcelona Unidad de Enfermedades Neuromusculares (Spain), and Ospedale Pediatrico Bambino Gesu’ IRCCS (Italy).
All sites are now open for this study. Please contact the study coordinator on the FARA website to see if the site is still accepting participants.
|
|
Sites are open for enrollment at University of Minnesota (Minneapolis), University of Florida (Gainesville), Children’s Hospital of Philadelphia, Monash University (Victoria, Australia) and RWTH Aachen University (Aachen, Germany).
There are 3 study visits, each approximately 12 months apart. At each study visit, participants will be asked to complete neurologic and functional testing, blood draw and brain and spinal cord MRI scan
Compensation is provided for time and travel expenses.
To contact a study coordinator, please click HERE.
|
|
Anyone considering participating in a clinical trial should discuss the matter with his or her physician. FARA does not endorse or recommend any particular study. |
|
The goals of the FA Global Patient Registry (FAGPR) are to collect information on all FA patients in one registry, to develop the registry into a powerful resource for research, and to engage the FA community in studies aimed at advancing our knowledge of FA and the treatments being developed.
|
|
The Pathway
You can help fund research progress all year by joining our monthly giving program, The Pathway. When you join The Pathway with a monthly donation of $10 or more, you are joining a community invested in setting a path to treatments and a cure for FA through research. Click the image to give today.
|
|
|
|
|
|
|
