Your Community News
Dear friends,

Thank you for your support of FA research over the past year. Together, we reached some important milestones on the journey to treatments and cures for FA. Some of those achievements included:

  • Funding over $7.5M in research, including FARA directed projects like a working group on mechanisms of gene silencing, new animal model development, a potency assay to support drug development, and projects on frataxin function
  • Leading a community petition with over 70,000 signatures requesting FDA and Reata advance the New Drug Application for Omaveloxolone in FA
  • Completing enrollment of Phase 3 trial for PTC-743, MOVE-FA study, with over 140 FAers globally
  • Opening a new clinical research site for the Natural History Study in New Delhi, India

As you can see from the updates below, 2022 is also off to a busy and impactful start. Thank you for all you've done and continue to do to make this progess possible for all families living with FA.

Sincerely,
Jen

Jennifer Farmer,
FARA Chief Executive Officer
Pharma News
Reata Pharmaceuticals Initiates Rolling Submission of New Drug Application with U.S. FDA for Omaveloxolone for the Treatment of Patients with Friedreich’s Ataxia

The rolling submission allows Reata to submit portions of the regulatory application to the FDA for review on an ongoing basis. The company reiterates that it expects to complete the submission of the NDA by the end of the first quarter of 2022.

Warren Huff, Reata’s President and Chief Executive Officer said, “I want to thank all the patients, families, and investigators who participated in the MOXIe trial and the extension phase of the study. We appreciate the FDA’s recognition of the potential of omaveloxolone for patients with Friedreich’s ataxia through its Fast Track Designation and guidance on the contents of the NDA.”

To read the full press release, click the link here.
The attitude of patients with progressive ataxias towards clinical trials

In this study, published in the Orphanet Journal of Rare Diseases, the authors sought to define the motivations for and barriers to trial participation amongst patients with progressive ataxias, as well as their condition-specific trial preferences. This study conducted an online survey consisting of 29 questions covering four key domains (demographics, personal motivation, drug therapy and study design) relating to the design of clinical trials. Ataxia UK and the Friedreich's Ataxia Research Alliance (FARA) sent the survey to members. Knowledge of motivations for and barriers to trial participation as well as the acceptability of investigations, time commitments and routes of drug administration should inform better, more patient focused trial design. This in turn may improve recruitment and retention of participants to future trials.
The CCRN in FA adds a new site -
St. Jude Children's Research Hospital
FARA is excited to announce the Center for Experimental Neurotherapeutics at St. Jude Children's Research Hospital in Memphis, TN as the latest site to join the Collaborative Clinical Research Network in Friedreich's Ataxia (CCRN in FA). The CCRN in FA is an international network of clinical research centers that work together to advance treatments and clinical care for individuals with Friedreich's ataxia. Each of the CCRN in FA sites is a place where FA patients can go to see a team of researchers, physicians, and health care providers dedicated to FA. 

The CCRN in FA site at St Jude is led by a specialist in pediatric neurological disorders- Dr. Richard Finkel. Dr. Finkel is an international expert in spinal muscular atrophy and played a vital role in developing the first successful therapy for this disease, and he has been a leader in organizing key clinical trials for neuromuscular diseases. He has nearly 30 years of experience in translational research into the biology and treatment of neurogenetic disorders in addition to SMA, including Duchenne muscular dystrophy and Pompe disease. 

The CCRN in FA is funded by FARA. The research centers involved in this network, including St. Jude, run a study called Clinical Outcome Measures in Friedreich’s Ataxia (FACOMS). This is a natural history study with the following objectives:
  • Collect data every year to understand progression of FA and quantify change in progression over time
  • Develop and validate outcome measures (timed walk tests, vision tests) to use in future clinical trials
  • Design and efficiently implement effective clinical trials
  • Collect biological samples such as cheek swabs and blood to identify and study biomarkers involved with the disease process and quantify the change in these markers over time

If you would like to participate in this study at St. Jude, please contact the study coordinator Colin Quillivan.
FARA Funded Research
General Research Grant
Therapeutic activity of a haematopoietic stem cell delivered tissue penetrating peptide in a Friedreich's ataxia mouse model
Mirella Dottori, PhD – University of Wollongong, Australia

A deficiency in proprioception, the perception of the body position and movement, is one of the earliest symptoms observed in Friedreich ataxia (FA). A major question in FA research is ‘when’ does the proprioceptor impairment start and what is the mechanism underlying this in terms of having reduced Frataxin expression. Dr. Dottori will use stem cells generated from FA patients to produce proprioceptor neurons as a model to investigate the mechanisms underlying proprioceptor dysfunction in FA. This is a necessary first step to determine ‘when’ and ‘how’ FA proprioception deterioration begins. We also need to learn when and how this can be halted and/or rescued by increasing Frataxin expression and ascertain the appropriate timing of treatment.
LEOPARD-FA: Longitudinal Endpoint Optimization to Provide an Assessment of Relevant Drugs in Friedreich’s Ataxia
Chad Heatwole, MD – University of Rochester Medical Center, NY

Dr. Heatwole previously developed two state-of-the-art outcome measures for patients with FA (The FA Health Indices) that provide a mechanism for a patient’s or caregiver’s perception of the effectiveness of a therapy to be recorded and utilized during a clinical trial. While these instruments are highly reliable, versatile, multifaceted, and relevant to FA patients, they have not yet been evaluated in longitudinal studies. Such assessments are necessary to complete the validation process for the instruments, satisfy FDA guidance criteria for their use in drug-labeling claims, optimize the responsiveness of the instruments, and prepare them for global use as relevant markers of symptomatic disease burden. Dr. Heatwole will validate the FA-Health Indices in: 1) An 18-month longitudinal study utilizing the FA Global Patient Registry; and, 2) The ongoing Friedreich’s Ataxia Clinical Outcome Measures Study (FACOMS).
Postdoctoral Research Award

Unveil the link between lipid metabolism and cardiomyopathy in Friedreich’s ataxia using patient-specific iPSC-CMs
Dezhen Wang, PhD – University of Pennsylvania

Studies have shown that specific lipids, called sphingolipids, are significantly increased in the FA heart tissue when compared with healthy controls. The basic components of more complex lipids, called free fatty acids, are the major source for producing energy in the human heart and their dysregulation has been observed in different FA models. Dr. Wang plans to use an in vitro model (induced pluripotent stem cell-derived cardiomyocytes or iPSC-CM) to generate human cardiac cells from easily accessible human tissues (such as skin or blood) and mass spectrometry to detect hundreds of different lipids in cardiac cells from healthy people and FA patients, and identify which lipids are different. Monitoring the changes of these molecules may provide some measures of heart disease progression and give insight into new therapeutic avenues for FA.
Upcoming In-Person Events
rideATAXIA
On January 16, rideATAXIA Gainesville kicked off the program calendar for 2022. This was our first time riding in Gainesville, and the team there started the year strong! Special thanks to Shandra Trantham and Team Crizzy's Runway to the Cure event, which fundraised over $210,000 towards the ride. The event welcomed over 200 participants who raised $276,900 in support of FARA's mission.

Shout out to all of our top individual and team fundraisers:
Individual

  1. Shandra Trantham
  2. Gavin Lambert
  3. Joshua Wooten
  4. Richard Rawls
  5. Thomas Bradley
Team

  1. Team CRIZZY
  2. Team Gavin
  3. AavantiBio
  4. Carly's Cruisers
  5. Cousins for a Cure
rideATAXIA SoCal is up next! It is scheduled on February 26, 2022 at Bolsa Chica State Beach in Huntington Beach, CA . Click here for more info: rideataxia.org/socal
Rare Disease Day - February 28
The National Institutes of Health, the EveryLife Foundation, and the National Organization for Rare Disorders all have great programming to educate and engage the rare disease community for Rare Disease Day on February 28! Click here to read the Advocacy newsletter which includes all the info about the events and how to get involved.
Support FA Research Year-Round Through
The Pathway, FARA’s Monthly Giving Program
Start the new year off with a commitment to help fund FA research! We invite you to join over 100 members of FARA’s monthly giving community, 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. A recurring donation to FARA is a budget-friendly way to help FARA fund and advance research with urgency. For more information or to join today, click the image on the left.
Open & Enrolling Studies
 
Please consider enrolling in this important study. Participants needed at all study sites, especially the University of Minnesota.

TRACK-FA is a natural history study to investigate brain and spinal cord changes in individuals with Friedreich ataxia. If imaging differences in the central nervous system are correlated with progression of FA, these differences could be used in future clinical trials to monitor treatment outcome.

Eligibility criteria include:
  • Age >5 years with genetically confirmed diagnosis of FA.
  • GAA repeat expansion >55 in length on both alleles of the FXN gene or GAA repeat expansion on one allele and another mutation type on the other allele (e.g., point mutation, gene deletion).
  • Age of disease onset less than 25 years.
  • Disease duration less than 25 years.
  • Able to undergo MRI
  • Participants can be involved in an investigational drug trial and still be eligible for the TRACK-FA study.

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. Watch an informational webinar here.

Sites are open for enrollment at University of Minnesota (Minneapolis), University of Florida (Gainesville), Children’s Hospital of Philadelphia (Pennsylvania), RWTH Aachen University (Aachen, Germany), University of Campinas (Brazil), and Monash University (Victoria, Australia). To contact a study coordinator, please click here. 

*This study has new expanded inclusion criteria*
 
27 FA participants and 17 unaffected siblings are needed to fill this study by March 2022. The outcomes of this study are critical for allowing remote data collection during future clinical trials.
 
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).

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.
 
Participants will be compensated for time in the study, and participants will be provided with a recumbent bike, which they can keep after study completion.

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.
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.