Your Community News
Dear friends,

As 2020 draws to a close, I reflect on the challenges, accomplishments, and continued generosity of our FA our community. One of the challenges we faced this year was the combination of increased research opportunities and fewer fundraising events.

This past Tuesday, aka Giving Tuesday, we launched our #GiftOfResearch campaign to help us close the funding gap and accelerate research momentum. As always, our community answered the call. We are excited to announce that Giving Tuesday kicked off our year-end campaign by raising over $95,000 which included a $25,00 generous match from Foley, Baron, Metzger & Juip, PLLC and a FARA Board Director.

Thank you to everyone that participated by creating an online fundraiser, donating, or by sharing photos and videos of why the #GiftOfResearch is important to you.

When you give the gift of research this holiday season, you are providing research tools and insights into Friedreich's ataxia. As you plan your holiday shopping, please consider giving the #GiftOfResearch to a loved one- gifting them an opportunity to be a part of the effort to find meaningful treatments and a cure for FA.

Sincerely,

Jen Farmer,
Chief Executive Officer
Open & Enrolling Studies
PTC-743: MOVE-FA Study
Enrollment now open at Children’s Hospital of Philadelphia (CHOP)

MOVE-FA is a Phase 2/3 interventional study with planned enrollment sites in Australia, Brazil, Canada, the U.S. and throughout the EU. Eligibility criteria include:

  • Genetically confirmed FA with two GAA repeat expansions (currently, point mutations and deletions are excluded from the study)
  • Children ages 7-17 and Adults age 18 and older
  • Ability to walk 10 feet in one minute with or without assistance
  • Be able to swallow capsules
  • Not have participated in another interventional study in the 2 months prior to enrollment in MOVE-FA

This interventional study will monitor the safety and efficacy of the drug Vatiquinone, which is expected to decrease the activity of an enzyme that allows free iron to trigger a type of programmed cell death that occurs more frequently in people affected with FA.

For enrollment at CHOP, please contact Courtney Park by email at ParkCC@email.chop.edu or by phone at 267-426-9567. Additional enrollment sites worldwide will become available in December 2020 through February 2021.

Information on MOVE-FA can be found HERE.
Exercise Study at CHOP and Penn

Researchers at the Children’s Hospital of Philadelphia and the Hospital of the University of Pennsylvania are recruiting participants (male and female, between ages 10-40, inclusive) for a study to test the effects of a dietary supplement combined with exercise on aerobic capacity. Aerobic capacity refers to the body’s ability to take in, transport, and use oxygen during exercise. Eligibility includes documented genetic diagnosis of FA, ability to complete exercise testing and not pregnant for women of child-bearing years.

If you are selected to participate in this study, you would complete 2 in-person study visits, each lasting 2 days, over a 12-week study period at CHOP and Penn. During the study period, you may complete blood testing, exercise testing, administration of a dietary supplement, MRI scans, oral glucose tolerance testing (with a non-FDA approved stable isotope product) and optional muscle biopsies. You will be compensated for your time.

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.
Heart and Eye Study at Weill Cornell Medical College

This study is currently recruiting 20 participants ages 12-17 diagnosed with FA along with their unaffected siblings in the same age range. This study is designed to characterize the cardiac manifestations of FA using exercise, MRI, ECHO and blood tests. Additionally, this study will include corneal confocal microscopy (CCM), a non-invasive eye evaluation. Study participants and their siblings will have 2 visits in 1 year to Weill Cornell Medicine in New York City; rapid COVID-19 testing will be performed at the hospital prior to study visit. Financial support is available for travel and hotel. For eligibility screening and additional study information, please contact the study coordinator through email at cora@med.cornell.edu
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 located in Baltimore, Boston, Chicago, Los Angeles or Portland (OR). Participants must be 12-30 years of age and be able to walk 10-feet independently, without an assistive device. For additional eligibility criteria and clinics open for enrollment, please contact study coordinator Hannah Casey (hannahcasey@uchicago.edu) or (773) 702-4610. 
New enrollments are on hold due to COVID-19, but phone screening can still be initiated now to prepare for the first clinic visit.
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. 
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.
FARA Funded Research
Central Nervous System Therapeutic Targets in Friedreich Ataxia
Ian H. Harding, PhD, David R. Lynch, Arnulf H. Koeppen, and Massimo Pandolfo, MD

Published in Human Gene Therapy, 25 Nov 2020

Because many of the major targets of long-term therapy for FA are in the central nervous system (CNS), FARA worked with several FA investigators to write an in-depth review of the pathology present in the brain and spinal cords of patients with FA. The diverse group of experts was able to evaluate evidence gathered from human clinical observations, physiological, pathological and imaging approaches, as well as studies in animal models. The resulting paper provides detailed summary of the current understanding of what areas of the spinal cord and brain are impacted by the disease, including what specific cells are vulnerable to the loss of frataxin.

Moreover, the review also provides some insight into the temporal course of neuropathological changes in the CNS, which helps to provide information on areas that may respond to therapy and be successfully treated at different timepoints during the progression of the disease.

This comprehensive review of the impact of FA in the CNS is useful to patients, caregivers, physicians, as well as drug developers, especially those planning to test therapeutics aimed at the spinal cord and/or brain. FARA effort to organize and support production of this review represents the ongoing commitment to focusing resources on filling gaps in our understanding of FA and building relationships needed to find effective treatments.

To access the full publication click HERE.
2020 Virtual FARA Energy Ball
The FARA Energy Ball took on a virtual form this year featuring a live broadcast and an online auction. An estimated 550 viewers tuned in to the broadcast that featured talks from FARA and local Energy Ball leadership, highlight videos from FA community members, a Fund a Cure donation call, and a live auction. Emcee Wendy Ryan and Auctioneer Scott Robertson brought their signature energy and sincere support to the event and the cause.

In total, the virtual FARA Energy Ball raised over $1 million to help advance FA research! Thanks to all who tuned in and supported this event.
National Ataxia Awareness Day
Resolution Passes!
The Senate passed the resolution designating September 25th, 2020 as National Ataxia Awareness Day! Even though the awareness day has come and gone this year, having the Resolution approved means that it will be much easier for Senators Warren and Hyde-Smith to reissue in the years to come. Thank you to all who met, wrote and called their Senators to make this recognition possible.
NORD Webinar - DECEMBER 10TH
A Rare Holiday Season: Tips for Mental Wellness During the Holidays and the COVID-19 Pandemic

NORD is offering a free webinar on Thursday, December 10th from 3:00pm - 3:45pm ET

Description: Are the holidays on your mind? Are you concerned about continued isolation as the winter months approach? Every year, rare disease community members balance the busy holiday season while also managing an illness. During the pandemic, there may be added challenges caused by the absence of normal traditions and the need to stay COVID-19 safe. Join us for a free, 45-minute webinar to learn how to identify stressors and use coping strategies to stay positive and live your best rare life this holiday season and beyond! 

This webinar is intended for patients, caregivers, advocates, students and the general public.
Registration for Rare Across America is open! This is your opportunity to make an impact on federal policy from home. The two week program will include social media campaigns, an update from the NIH, advocacy training and the opportunity to meet with your members of Congress…all virtual, all happening right in your own house! Don’t miss this amazing opportunity!
Mark you calendars! The EveryLife Foundation for Rare Diseases has announced a big change in programming for 2021. Rare Across America will now take place virtually from Feb 22 - Mar 5 and Rare Disease Week is moving to July 19-22 in Washington, DC.