Your Community News
Dear friends,

The updates in this month's newsletter reflect FARA's core value of collaboration.
For example, FARA's newly funded research was co-funded with our partners at fara Australia, FARA Ireland, and the National Ataxia Foundation. Also, while the SoCal and Gainesville teams were in a friendly competition with one another in the rideATAXIA Coastal Challenge, it was their collective efforts that raised over $100,000 for research. Lastly, the enrolling clinical studies and trials are only possible through the collaborative efforts of clinicians, pharma, and FA families. Though the individuals in these groups are largely unknown to one another, they each need to fulfill their role of investigator, sponsor, or trial participant in order to successfully advance research.

We look forward to celebrating and highlighting more of our collaborative efforts in May- FA Awareness month, when we join fara Austrialia in their annual Lend Us Some Muscle campaign, and we bring back the FARA Flash Talk series featuring our Young Investigators. Until then, thank you for all the ways you collaborate to bring us closer to treatments and a cure for FA.


Jen Farmer,
Chief Executive Officer
FARA Newly Funded Research
Postdoctoral Research Award
Elisabetta Indelicato - Medical University of Innsbruck, Austria.

Hepcidin-Ferroportin axis in Friedreich’s ataxia

One of the open questions in Friedreich's ataxia (FA) is elucidating the role of iron in the development of the disease. Abnormal iron deposition is believed to trigger damage of mitochondria and contribute to disease manifestations. Over the past years, research in other fields identified the protein hepdicin (HAMP) as the main regulator of iron metabolism in the human body. A few studies in autopsies and in mouse models suggest that HAMP pathway may be altered in FA. To explore HAMP involvement in FA, Dr. Indelicato designed a study in which she will measure levels of HAMP, iron and copper parameters, erythropoietin and erythroferrone (other human hormones with iron-regulating properties), as well as frataxin in blood cells of FA patients, carriers, and control subjects.

Co-funded with fara Australia and FARA Ireland
General Research Grant
Nadia D'Ambrosi - University of Rome Tor Vergata, Italy. 

Role of iron-dependent dysfunctions in microglia toxicity.

In many diseases characterized by nerve cell injury, the effect of non-neuronal cells can contribute to disease pathogenesis. Microglial cells are considered the immune cells of the central nervous system. They constantly surveil the environment to remove possible harmful agents and sometimes recognize malfunctioning neurons as undesirable elements that must be removed. On the other hand, microglia function also helps the survival of neurons. With this project, Dr. D’Ambrosi aims to study the involvement of microglia in FA. Her group will employ microglia derived from healthy and FA mice to understand if frataxin loss and iron accumulation activate microglial cells, inducing the production of damaging oxidants and the release of pro-inflammatory molecules, transforming them into possible neurons’ foes.

Co-funded with the National Ataxia Foundation
2021 rideATAXIA Coastal Challenge
The maiden voyage of the #rideATAXIACoastal Challenge was a great success. Thanks to the efforts of the Gainesville and SoCal teams, we raised $102,300 for research!

Shout out to all of our cruisers especially our top 5 fundraising teams and individuals as follows:
SoCal- Team Third Wheelers, #teamTex2cureFA, ELMO4Tex, Team Bartek, and CU Motor Speech Lab. Gainesville- Team Crizzy, Carly’s Cruisers, Team Alli, Chasing a Cure, and Team Gavin.
SoCal- Kyle Waterman, The Wooldridge Family, Sienna Helms, Dylan Helms, and Vlad Ayriyan.
Gainesville- Isabel Maugee, Christian Maugee, Shandra Trantham, Caroline Maugee, and Allison Dana.
FARA Energy Ball -September 25, 2021

Save the Date for The FARA Energy Ball on September 25, 2021. Whether you join us for the event in Tampa, FL or stream it remotely, you can join in the fun! Stay tuned for more details.
Mark your calendar for these Grassroots Events
Click the image below for a list of scheduled 2021 events!
Please contact to start planning your grassroots event or to put a Save the Date on our events calendar!
Advocacy Newsletter
FARA launched a newsletter dedicated to Advocacy News to keep you up to date on the latest initiatives as well as education and outreach opportunities. Click here to read the latest issue.
The EveryLife Foundation for Rare Diseases is pleased to open applications for the second year of the #RAREis Scholarship Fund. Thanks to the support of Horizon Therapeutics plc, one-time awards of $5,000 each will be granted to up to 35 recipients for the Fall 2021 semester.

Who is eligible?
  • Any rare disease patient pursuing accredited classes at any stage in their life
  • Full-time, part-time or trade school students
  • Non-traditional students (students do NOT need to be pursuing an undergraduate or graduate degree) 

The #RAREis Scholarship is available for any rare disease patient who is age 17 or older and has a US residency. This scholarship is not degree specific or dependent on a four-year of two-year degree program, students must be enrolled or planning to enroll in an accredited course(s) for Fall 2021 Semester.

Deadline for application is May 7th, 2021 @ 3:00 p.m CDT
Open & Enrolling Studies
Exercise Study at CHOP and University of Pennsylvania

Currently, 14 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 or by phone
(267) 425-1998.
MOVE-FA Study for Vatiquinone (PTC-743)

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

**There are several participant openings with Dr. Mathews at the University of Iowa**

Additional sites will open in Europe in May 2021.

MOVE-FA is a Phase 2/3 interventional study.

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.
IDEA Study for Wearable Device

Investigators for this study are hoping to close this study soon – please
consider enrollment to fill all available participant openings.

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. Involvement in the study provides compensation for travel and an Apple watch.

For additional eligibility criteria, please contact study coordinator Hannah Casey
( or (773) 702-4610. Please specify your city of interest for enrollment - Baltimore, Boston, Chicago, Los Angeles or Portland (OR).
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.