Your Community News
Dear friends,

As you will see below, 2021 is off to an active start in Friedreich's ataxia research, advocacy, and events. There are a number of enrolling clinical studies and trials, and FARA announced funding for three new grants awards. rideATAXIA just launched their new virtual campaign- the Coastal Challenge, and there are many training and engagement opportunities for Rare Disease Day at the end of the month. Below, you'll find information on all of this and more. As always, thank you for your active engagement in these efforts and our work to reach treatments and a cure for FA.

Sincerely,
Jen

Jen Farmer,
Chief Executive Officer
Open & Enrolling Studies
*NEW SITES OPEN* PTC-743: MOVE-FA Study

Enrollment now open at Children’s Hospital of Philadelphia (CHOP), University of South Florida, UCLA, Murdoch Children’s Research Institute (Australia) and CHUM (Canada).

MOVE-FA is a Phase 2/3 interventional study with planned enrollment sites in Australia, New Zealand, 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.

Information on MOVE-FA can be found HERE.
*NEW* FA-Health Index survey – Phase 3 with interview

Individuals with FA, age 11 and older, are invited to participate in this study.

The study involves completing an online survey and participating in a phone interview. The survey will take approximately 20 minutes to complete and will ask some personal questions about you, your household, and how FA affects your quality of life physically, mentally, and emotionally. After taking the survey, the interview will take approximately 60 minutes and will discuss how easy it was to complete the survey, how understandable the questions were, the format of the survey, and what some of the questions mean to you.

For more information, interested participants can reach out to the study coordinator, Jamison Seabury, at 585-867-1461 or email jamison.seabury@chet.rochester.edu.
Exercise Study at CHOP and University of Pennsylvania

Currently, 15 participants needed for this study.

Researchers at the Children’s Hospital of Philadelphia and the Hospital of the University of Pennsylvania are recruiting participants 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
  • Age 10 to 40
  • Ability to complete exercise testing
  • 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

20 participants needed

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.

Eligibility includes:

  • Confirmed diagnosis of FA
  • Age 12 – 17 plus an unaffected sibling in the same age range

Study participants and their siblings will have 2 visits in 1 year at 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

Participants can be involved in an investigational drug trial and still be eligible for the IDEA study. Participants are needed at all sites in Baltimore, Boston, Chicago, Los Angeles or Portland (OR).

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. Participants must be 12-30 years of age and be able to walk 10-feet independently, without an assistive device.

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).
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 Newly Funded Research
Defining the therapeutic window and threshold for neuronal gene therapy in Friedreich Ataxia
Hélène Puccio, PhD - Institute NeuroMyoGène, Lyon, France

One promising gene replacement therapeutic approach for Friedreich ataxia is to deliver the frataxin gene to affected cells, using viral vectors. However, there are a number of questions that need to be addressed to optimize the development of a safe therapeutic protocol. In particular, it is now accepted in the field that too much frataxin expression can be detrimental to the normal function of the cell. Furthermore, it is important to estimate the number of neurons that need to be corrected to produce a clinical benefit and it is therefore important to determine if gene replacement can correct this very early damage to the tissue. Dr. Puccio and her team will address these questions with a particular focus on the neurological aspects.
Regulation of frataxin expression - implications for Friedreich's ataxia therapy
Jill Napierala, PhD - University of Alabama at Birmingham

One of the major types of therapeutic approaches for FA currently being developed tries to counteract the frataxin deficiency in the cell. In order for the therapy to be successful, we need to determine what is the minimum amount of frataxin increase that will be beneficial for patients as well as what is the maximum possible increase of frataxin that will not cause any negative consequences. This is called a therapeutic window and is an essential parameter for therapy development for FA. Also, to better understand dosing of potential drugs that could increase frataxin levels, results of the proposed work will determine the ways that frataxin production, maintenance and removal are controlled.
The pathogenesis of the major neural lesions in Friedreich ataxia: dorsal root ganglion and dentate nucleus
Arnulf H. Koeppen, MD - VA Medical Center, Albany

The principal investigator hypothesizes that each one of the vulnerable tissues in FA contains a unique set of proteins that undergo changes in the level of expression in response to frataxin deficiency. The goal of this research is to identify those proteins-of-interest in FA that are up-regulated or down-regulated relative to levels in non-FA subjects, and to determine the functional consequences of these differences. The investigator uses tissue samples obtained at the time of autopsy that were generously donated by the families of patients who succumbed to FA. The project has already yielded several important conclusions among which are: (1) Frataxin deficiency causes incomplete development of the DRG; and (2) further destruction is due to proliferation of satellite cells that normally surround and nourish the nerve cells of the DRG.
2021 rideATAXIA Coastal Challenge
REGISTRATION IS NOW OPEN!!

For the first time ever, we will be combining our SoCal and Gainesville rides to bring you ....the rideATAXIA Coastal Challenge!

Our East and West Coast communities will be going head to head in fundraising, community activity mileage, and social media engagement to see who will be declared the winner of our 10-day virtual cruise campaign.
Register TODAY!

Grassroots Events
We are looking ahead in 2021! Please contact ann.musheno@curefa.org to start planning your grassroots campaign/ event or to put a Save the Date on our events calendar for later this year.
Advocacy News
Rare Across America is a two week virtual program sponsored by the Everylife Foundation. Registration has closed for legislative meetings but you can still participate in many of the other activities. It is a great opportunity to learn the current issues and raise awareness of rare disease. For those that already registered, don't forget to sign up for the training webinar on Feb 9. All information is below.
Week 1: RARE Readiness

  • Monday, 2/22: Selfie Monday — Post a picture on social media and tag #RareAcrossAmerica2021
  • Wednesday, 2/24: Fast Forward for Rare Practice Your Pitch Webinar, 2:00pm-3:30pm ET – Register here
  • Thursday, 2/25: Virtual Rare Disease Caucus Briefing, 1:00pm-2:00pm ET – Register here
  • Friday, 2/26: Share Your Rare Story—Take a video and post on social media and tag #RareAcrossAmerica2021

Week 2: RARE Rally

  • Monday, 3/1: Rare Disease Day at NIH (virtual)—Register on NIH website
*YOU CAN SIGN UP FOR THIS EVENT EVEN IF YOU DON'T SIGN UP FOR RARE ACROSS AMERICA*
  •  Tuesday, 3/2: Prepare for Your Virtual Hill Meetings (One pagers and resources at www.RareAcrossAmerica.org)
  • Wednesday, 3/3: Virtual Hill Meetings with Senators (12-5 pm ET), registration closed 
  • Thursday, 3/4: Virtual Hill Meetings with Representatives (12-5 pm ET), registration closed
  • Friday, 3/5: FDA’s Rare Disease Day 2021 (virtual) Register on FDA website
*YOU CAN SIGN UP FOR THIS EVENT EVEN IF YOU DON'T SIGN UP FOR RARE ACROSS AMERICA*
 
SAVE THE DATE: The Rare Across America training webinar for First Time Advocates Webinar will take place on February 9th at 2:00 pm ET. To register, click here.
YARR LEADERSHIP ACADEMY
The YARR Leadership Academy is a series of on-line courses offered to a select group of young adults in the rare disease community (ages 18-29). There is no charge for this great advocacy training opportunity and you would receive a $1000 travel stipend to put your new skills to work at Rare Disease Week on Capitol Hill! Applications are open until February 15. Fifteen people will be selected to do the course. If there is enough interest, they will consider rerunning the program in the fall. Click on "apply here" to learn more.

Questions? Please visit HearusYARR.org or email lcundiff@everylifefoundation.org
Applications open January 1st - February 15th, 2021. 
Classes offered March 10th - May 19th, 2021.
Be on the lookout for more advocacy news in the
FARA Advocacy Newsletter: Coming later this month!
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.