Your Community News
Dear friends,

As many of you know, FARA has prepared a letter to send to the Food and Drug Administration (FDA) and Reata Pharmaceuticals to request that they Allow Individuals with Friedreich Ataxia Access to Omaveloxolone. (Read and Sign on to the letter.) This letter requests Reata to submit a New Drug Application (NDA) on an urgent basis and FDA to exercise the flexibility granted by law and contained in FDA guidance in considering approval of an NDA for Omaveloxolone in FA based on the existing evidence from clinical trials.

In just four days, you have facilitated over 25,000 signatures in support of this letter! We are grateful to everyone who has signed the letter, especially members of our FA families who make up 23% of respondents. The statements and photos shared by FA families will be instrumental in drawing attention to the patient experience and voice. If you have not signed onto the letter, you can do so up until January 20th. The entire FA community (individuals with FA, family, friends, caregivers, supporters, other rare disease advocates) is invited to sign on.

We are at a point where our investments in research are translating into a pipeline of treatments and where the companies developing the drugs, the regulators at the FDA, and we stakeholders in the process need to achieve clarity on pivotal issues such as what the bar for approving new drugs for FA should entail. Thank you for your support in this effort.

Sincerely,
Jen

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

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.

Additional enrollment sites worldwide will become available through February 2021.

Information on MOVE-FA can be found HERE.
IDEA Study

Participants are needed at all sites

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. Participants can be involved in an investigational drug trial and still be eligible for the IDEA study.

For additional eligibility criteria and clinics open for enrollment, please contact study coordinator Hannah Casey (hannahcasey@uchicago.edu) or (773) 702-4610. Please specify your enrollment site of interest.
Exercise Study at CHOP and University of Pennsylvania

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
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.
Pharma News
FARA Funded Research
Metabolic (mal)adaption of heart and skeletal muscle to frataxin depletion
Erin Seifert, PhD - Thomas Jefferson University

Dr. Seifert's lab has shown that in a mouse model of FA, heart function can be normal despite >98% loss of Frataxin (Fxn) and evidence of iron overload; normal function likely relies on activation of compensatory processes that protect the heart. The aim of this grant is to understand whether some perturbations observed in the hearts of fxn-depleted mice may help preserve heart function despite frataxin loss, and whether the observed changes in signaling pathways are beneficial or maladaptive. This group will determine if small molecules targeting these affected pathways can be therapeutics for FA.
Constancy of FRDA phenotypes across neuronal types and development
Yutaka Yoshida, PhD - Burke Neurological Institute & Joriene de Nooij, PhD - Columbia University

This proposal is focused on three areas that remain understudied in FA. First, is the mechanism of disease the same in all neuronal tissues? Second, is the effect of the loss of FXN the same in a developing neuron as in a mature neuron? Lastly, does the loss of FXN in the developing neuron lead to permanent (genomic) alterations that cause or exacerbate disease later in life? These investigations propose to analyze the similarities or dissimilarities in the FA pathology in different neuronal types and during neuronal development, in a mouse of FA and in cell culture.

Co-funded by the CureFA Foundation
2020 rideATAXIA Recap
The resilience of the FA community was on display through a year of new opportunities for the rideATAXIA program. Together we conquered virtual challenges, reached impressive activity goals, and fundraised over a million dollars to get us closer to treatments and a cure, all while connecting with each other virtually. Thank you for all of the ways you contributed to the effort despite this challenging year. We're looking forward to seeing you in 2021. 

In total, rideATAXIA was able to raise over $1 million, had over 1,300 participants, rode 96,875 miles (155,905 KM), and had participants from 21 different countries! Thanks to all who helped make this year an unforgettable one.
Advocacy News
Congress Passes, and President Trump Signs, Surprise Medical Billing Legislation

After years of hard work from advocates, the No Surprises Act was passed by Congress and then signed into law by President Trump as part of the Consolidated Appropriations Act, 2021 on December 27, 2020. Surprise medical bills occur when patients unexpectedly receive care from out-of-network health care providers. This can happen, for example, when a patient goes to an in-network hospital but an out-of-network doctor is part of the care team. Patients should not worry about getting a financially devastating surprise bill after receiving necessary medical care. This Act applies to surprise bills from doctors, hospitals and air ambulances and will take effect in January, 2022. It is a big step forward in ending surprise billing.
Stimulus Package includes Additional Funding for Federal Agencies

The Consolidated Appropriation Act, 2021 also increased funding for many of our nation's health, medical and scientific agencies. The pandemic has clearly revealed the critical need to bolster our nation's research and public health infrastructure. FARA will continue to advocate in 2021 for robust and timely funding to our federal agency partners, highlighting that additional funds could reboot and restart research stalled or halted in rare disease due to the pandemic.
FARA joins MDA to Ensure Our Community is a Priority Group for COVID-19 Vaccine

Last month, MDA led 19 partnering advocacy organizations in reaching out to every state, territory, and city tasked with determining COVID-19 vaccine allocation and distribution and asked that all adults with a neuromuscular disease gain access to the vaccine in phase one. All jurisdictions plan to prioritize adults with high-risk medical conditions, and MDA and our partner organizations seek to ensure those with neuromuscular diseases are included in that category. 
Everyday Life
#RAREis Scholarship Fund for 2021
The #RAREis Scholarship Fund was established in 2020 to help young adults with rare diseases to pursue their dreams through education. Thanks to the support of Horizon Therapeutics plc, $185,000 in scholarships was granted last year to 37 rare disease patients, representing 31 disease groups and 23 states!

Applications in support of Fall 2021 tuition will open April 1st and close May 7th, 2021. The scholarship offers one-time $5,000 grants and is available for applicants of all ages and disease groups who are pursuing college, post-graduate degrees, trade school or class certification courses.

So…what’s your dream? Make it happen with the #RAREis Scholarship Fund.
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 your 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.
Global Genes and Everylife Foundation partner again in bringing you RARE on the Road 2021, the annual Rare Disease Leadership Tour that brings critical education and insights to rare disease patients, caregivers and other advocates. Whether you’re new to the rare disease community or a “seasoned veteran” this event is for you!

RARE on the Road 2021 will consist of one interactive webinar and three in-person meetings. While all parts of this event are geared toward empowering advocates to build their skill set, enhance their knowledge, engage in advocacy, and network with their local rare disease community, in-person events will focus on state-specific information based on their location.

*Registration will launch in February, 2021. In-person events will be held in accordance with local law and observe Centers for Disease Control COVID-19 guidelines.
The 2021 Living Rare, Living Stronger NORD Patient and Family Forum will be a two day virtual event filled with learning, networking and fun!