Dear friends,
Rare Disease Day is just a few days away. February 28th is a day to raise awareness of the over 7,000 rare diseases that impact over 300 million people globally! Here are a few ways to recognize the day:
For the past year, FARA and the National Ataxia Foundation (NAF) have been working to get “hereditary ataxia” added to the Congressionally Directed Medical Research Program (CDMRP). The CDMRP focuses on funding high impact, high risk, and high gain research projects. Since its origin in 1992, the CDMRP has funded $17.8 billion dollars for research. Congress decides which conditions to include and how much money to appropriate for each area of research. If “hereditary ataxia” were added to the CDMRP, it would provide a new source of funding for FA researchers. FARA and NAF are currently building a coalition of support for this initiative among Congressional Members and you can help!
-
First, find your two Senators here and your House Representative here. You should have an option to “contact” them and that will usually take you to a form for their office.
- Share your rare disease story including how it has impacted you and your family, and make sure to include that there are currently no treatments for FA.
- Ask them to support FARA’s initiative to add “hereditary ataxia” to the CDMRP
-
Let Brigid Brennan know if they are interested! FARA will follow up with supporting documentation and would be happy to meet with them to discuss further.
|
|
Also, in honor of Rare Disease Day, The Ataxian has been re-released and can be viewed for free on YouTube! It is an award-winning documentary about Team FARA's participation in Race Across America and the resilience of the FA community. Please consider sharing the film with friends, family, and on social media to raise awareness for rare disease. Click here to access template posts and photos for social media.
The cast and crew of the film will also host a special Q+A session on March 3, 2022 at 8pm ET. Find out what it was like to cycle nonstop across the country in 8 days and hear some of the team's favorite stories from the road! Click here to register.
Sincerely,
Jen
Jennifer Farmer,
FARA, Chief Executive Officer
|
|
General Research Grants
Understanding ketogenesis in FRDA: Pathophysiology, biomarkers and nutritional therapies
David Lynch, MD, PhD – Children’s Hospital of Philadelphia
Recent evidence from Dr. Lynch’s laboratory suggests a crucial role of metabolism of compounds called ketone bodies in the cause of FA. Frataxin controls ketone body metabolism through regulation of a specific enzyme, 3-Oxoacid CoA-Transferase 1 (OXCT1). This enzyme leads to use of ketone bodies as energy. Dr. Lynch and his group found that frataxin physically interacts with OXCT1 and blocks its degradation leading to failed ketone utilization when frataxin is not present. In this proposal, Dr. Lynch and his group will study how ketone body utilization is disrupted in frataxin deficient cells, in animal models, and in patients with FA.
|
|
Novel Mitochondrial Targets for Friedreich’s Ataxia
Xinnan Wang, MD, PhD – Stanford University
Reactive oxygen species or ROS are highly reactive molecules that when allowed to accumulate in the cell, as is the case for FA, can induce damage and eventually cell death. Dr. Wang proposes a new therapeutic strategy for FA that instead of reducing ROS, targets the consequences of elevated ROS inside the cell that cause cell damage. Dr. Wang and her group discovered that high ROS levels cause impairment of a mechanism that is important to recycle mitochondria and found molecules that can target this mechanism and restore mitochondrial recycling. Dr. Wang provided evidence that targeting this pathway rescues the phenotype of a fruit fly model of FA and improves survival of FA cells. With this work, she aims to validate these novel therapeutic targets.
|
|
Rescue of Friedreich’s Ataxia cells by DNA methylation editing of the FXN gene
Shawn Liu, PhD - Columbia University & Joriene de Nooij, PhD – Columbia University
DNA hypermethylation of the FXN gene has been documented in FA patient cells and has been correlated with FXN transcriptional deficiency and age of disease onset. DNA methylation is a code that is written onto genes to shut them down, and consists of chemically changing the structure of one of the 4 DNA building blocks. Dr. Liu has developed a CRISPR-based molecular tool to precisely edit DNA methylation. With this new tool, his group will test whether removing methylation of the FXN gene may reactivate its expression and rescue FRDA-associated cellular defects. In collaboration with Dr. Joriene De Nooij at Columbia University Medical Center, Dr. Liu will apply the DNA methylation editing tool to demethylate FXN in sensory neurons derived from FRDA-patient induced pluripotent stem cells (iPSCs), and in Dorsal Root Ganglia sensory neurons obtained from a mouse model of FA.
|
|
LEXEO Therapeutics (LEXEO), a clinical-stage gene therapy company advancing a diverse pipeline of adeno-associated virus (AAV)-based gene therapy candidates for genetically defined cardiovascular and central nervous system diseases, announced that the U.S. Food and Drug Administration (FDA) has cleared its Investigational New Drug (IND) application for LX2006. LX2006 is an AAV-based gene therapy candidate designed to intravenously deliver a functional frataxin gene for the treatment of Friedreich’s ataxia cardiomyopathy.
Read the full press release from LEXEO here.
|
|
The latest episode of the Minutes of Science series is here!
|
|
|
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.
The team at the University of Minnesota is eager to welcome new study participants now! The team is led by Principal Investigators- Drs. Pierre-Gilles Henry and Christophe Lenglet. They have been working in the FA field since 2013 and are especially interested in neuroimaging research, as they hope it will help discover sensitive biomarkers for clinical trials. For more information on TRACK-FA, visit: https://bit.ly/3l0G6pR To read the full interview with the team at University of Minnesota, visit: https://bit.ly/3BL5oyp.
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
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.
|
|
|
|
|
|
|
