Dear friends,
This monthly update contains updates from several pharma companies developing therapies for FA as well as notices for enrolling clinical trials. It is an exciting time for FA research. We recognize that the decision whether to participate in a trial is a significant one, requiring both a travel and a time commitment. Our aim is to help provide you with the information to help make an informed decision. Thank you to everyone who has given clinical research participation careful consideration. Together, we will treat and cure FA!
Sincerely,
Jen
Jen Farmer,
FARA Chief Executive Officer
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Stealth BioTherapeutics Receives Orphan Drug Designation from FDA for Elamipretide for the Treatment of Friedreich's Ataxia.
A phase 2a investigator-initiated trial evaluating Elamipretide for the treatment of Friedreich's ataxia has been initiated at Children's Hospital of Philadelphia (CHOP) under the direction of Dr. David Lynch. The trial is evaluating two doses of Elamipretide in patients with Friedreich's ataxia to assess safety, visual function, and cardiac function.
The Orphan Drug Act was enacted in 1983 to encourage development of drugs for rare diseases, which are diseases that affect fewer than 200,000 persons in the United States. Once granted, Orphan Drug Designation provides various development benefits for an investigational drug.
To read the full press release, click here.
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Design Therapeutics Completes Dosing in First Patient Cohort of Phase 1 Trial of DT-216 GeneTAC™ Molecule for the Treatment of Friedreich Ataxia
Design Therapeutics, Inc. (Nasdaq: DSGN), a clinical-stage biotechnology company developing treatments for degenerative genetic disorders, announced that it has completed dosing in the first single ascending dose (SAD) cohort of its Phase 1 clinical trial of DT-216 in patients with Friedreich ataxia (FA). DT-216 is a novel GeneTAC™ gene targeted chimera small molecule designed to specifically target the GAA repeat expansion mutation, the underlying cause of FA, and restore frataxin (FXN) gene expression. Additionally, Design announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation to DT-216 for the treatment of patients with FA. Click here to read the full press release.
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Reata Pharmaceuticals Completes Rolling Submission of New Drug Application for Omaveloxolone for the Treatment of Patients with Friedreich’s Ataxia
Reata Pharmaceuticals, Inc., a clinical-stage biopharmaceutical company, announced the completion of the rolling submission of a New Drug Application (“NDA”) to the U.S. Food and Drug Administration (“FDA”) for omaveloxolone for the treatment of patients with Friedreich’s ataxia. This NDA is supported by the efficacy and safety data from the MOXIe Part 1, Part 2, and MOXIe Extension studies. The FDA has granted Fast Track Designation and Orphan Drug Designation to omaveloxolone for the treatment of Friedreich’s ataxia. Click here to read the full press release.
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This symposium will begin with a welcome reception on Saturday, September 24th from 5:00pm – 6:30pm. The general session and presentations will be Sunday, September 25th from 8:00am – 4:30pm.
Please save the dates! To reserve a room in the hotel block, including an accessible room, call 484-238-1800 and Mention "FA Symposium September 2022." The rate will be $129.00/per night. Registration and agenda to follow.
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The latest episode of the Minutes of Science series is here!
You can watch Episode 11: The Role of Iron in FA now. Narrated by Jakob Mitterhauser, this episode explains the role of iron in FA, the process of ferroptosis, and FARA funded research into possible therapeutic approaches.
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Ataxia Athlete Initiative (AAI) |
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Applications for the 2022 Ataxian Athlete Initiative are NOW OPEN! Learn more and apply here. The application will be open until May 13, 2022 but get started now so you can do your test ride as part of the application process.
In a recent article in Bicycling Magazine, Dr. David Lynch said, "[Exercise, such as cycling, is beneficial] because physiologically it can modify the pathophysiology of diseases by induction of protective mechanisms, such as mitophagy.”
Frank Orlowski, a 2018 recipient of the AAI grant, says, "this bike is a godsend, it's everything." You can read the entire article here.
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Researchers at Vanderbilt University Medical Center in Nashville, TN want to learn more about changes in glucose control and cardiac features in children with Friedreich's Ataxia. They are recruiting participants (ages 7-17 years) with FA for a study to determine if there is a relationship between blood sugar abnormalities (risk of diabetes) and cardiac changes.
If your child is selected to participate in this study, your child may complete blood testing, oral glucose tolerance testing (with a non-FDA approved stable isotope product), placement of a continuous glucose monitor, echocardiogram (ultrasound of the heart), and dual-energy X-Ray absorptiometry (DXA, x-ray scan) during a 1-2-day study visit. You and your child will be compensated for your time. Click here for more information about this study.
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This is a first-in-human, Phase 1, study of DT-216 which means that trial will begin with single dose cohorts to assess safety. Enrollment will be in cohorts (typically 5-8 people). The first cohort will be enrolled and tested at the first dose, then there will be a review of the safety, then typically several weeks later the next cohort will be enrolled to test the next dose. After the single dose study, there will be a multiple dose study, which is also a safety study. Multiple dose studies typically assess safety over a period of several weeks to a month. More information on the multiple dose study will be available once the single dose study further along.
Inclusion criteria:
- Individuals with FA ages 18 to 55 years old (inclusive) at screening
- Genetically confirmed diagnosis of FA with homozygous GAA repeat expansions
- Weight between 90 and 200lbs (approximately)
- Ability to sit upright with thighs together and arms crossed without requiring support on more than two sides
- Ability to perform basic daily care such as feeding yourself and basic personal hygiene with minimal assistance
- Must have completed full COVID-19 vaccination at least 4 weeks before treatment
This study is being conducted at Clinilabs and will require about a week long stay at the study site. Compensation will be provided for qualified participants and caregivers. Individuals and caregivers who are not local to the research facility will receive no-cost transportation and accommodations. Click here for more information and to read the study flyer.
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Please consider enrolling in this important study. Participants needed at all study sites.
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
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.
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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.
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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. |
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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.
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