It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…
People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…
The Friedreich’s Ataxia Research Alliance (FARA) and the University of California Los Angeles (UCLA) have joined forces to sponsor a Friedreich’s ataxia (FA) patient symposium in Torrance, California, on Feb. 23. The symposium will be an educational event for people living with FA, including patients and families.
An attorney in Sioux Falls, South Dakota, has taken up the challenge to raise $75,000 before Christmas to fund a Friedreich’s ataxia (FA) study project at Sanford Research, after his daughter was diagnosed with the neuromuscular condition. Brendtro started a crowdfunding campaign, The Finish Line Fund, to fund the…
The European Medicines Agency (EMA) has granted orphan medicinal product designation to Agilis Biotherapeutics’ gene therapy candidate AGIL-FA, being developed for the treatment of Friedreich’s ataxia (FA). FA is a neurodegenerative disease caused by a defect in the frataxin (FXN) gene that reduces production of the…
Haji Babar Naseer Sheikh was diagnosed with Friedreich’s ataxia (FA) soon after earning his bachelor’s degree. His worsening neurological symptoms and muscular dystrophy left the young Pakistani man unable to speak and move. But Babar couldn’t find the support he needed in his own country, so he decided to…
Reata Pharmaceuticals has enrolled the first patient in the pivotal Part 2 of its MOXIe study designed to evaluate omaveloxolone (RTA-408) in Friedreich’s ataxia (FA) patients. Omaveloxolone is a small molecule Nrf2 activator. Nrf2 is a transcription factor that activates the activity of genes involved in promoting mitochondrial function.
Omaveloxolone, a drug developed by Reata Pharmaceuticals, may slow disease progression and promote the recovery of lost neurological function in patients with Friedreich’s ataxia (FA). The encouraging results come from the first of the two-part MOXIe Phase 2 trial (NCT02255435) that is evaluating the drug’s efficacy and…
The Friedreich’s Ataxia Research Alliance is holding a fun and easy photo challenge to raise global awareness of the disease. Photography buffs and amateurs can submit pictures of themselves with #CureFA signs to help the alliance mark Friedreich’s Ataxia Awareness Day on Saturday, May 20. You’ll need to submit the photos to the…
Chondrial Therapeutics has licensed the investigational compound CTI-1601 for treating Friedreich’s ataxia (FA) from Indiana University Research and Technology Corporation (IURTC) and Wake Forest University Health Sciences. The company said it has also secured $22.6 million in financing to advance the treatment. “The $22.6 million Series A financing, combined with the licensing…
American researchers have come up with a new, non-invasive way to measure mitochondrial function in human skeletal muscle, a development that could help those with Friedreich’s ataxia (FA) and other diseases. Aberrant functioning of mitochondria, cell components that convert food to energy, is a hallmark of such disorders. The team from Ohio State…
The Friedreich’s Ataxia Center of Excellence at The Children’s Hospital of Philadelphia is presenting a one-day annual symposium on Friedreich’s ataxia (FA) Monday, Oct. 17, in King of Prussia, Pennsylvania. The ninth annual meeting demonstrates the ongoing outreach of the Friedreich’s Ataxia Research Alliance (FARA) to the FA community nationwide and an…
Early results from Retrotope‘s Phase 1/2 clinical trial assessing RT001 as a potential treatment for Friedreich’s ataxia (FA) show that it has met it primary safety, tolerability and pharmacokinetics endpoints, the study’s lead investigator announced. The ongoing trial, titled “A First in Human Study of RT001 in Patients with Friedreich’s Ataxia” (NCT02445794),…
KRAM Wellness’ flagship product, Flexfit, is a three-in-one injury prevention product that provides a controlled stretch using an adjustable, non-elastic design. The company reports that, in addition to aiding fitness fans, this newly available device is used by chiropractors and physical therapists, and may be of benefit to people with dexterity problems, like Friedreich’s…
The nonprofit Global Genes, an organization for patients and families fighting rare and genetic diseases, is awarding more than $100,000 in travel stipends to help hundreds of patient advocates attend 5th Annual RARE Patient Advocacy Summit Sept. 22-23 in Huntington Beach, California. After the summit, the 2016 Tribute to Champions of…
Pfizer recently acquired the biotech Bamboo Therapeutics which develops therapies for potential treatment of patients with neuromuscular and central nervous system (CNS) rare diseases – like Friedreich’s ataxia (FA). The purchase is expected to expand Pfizer’s portfolio in gene therapy by including the advanced recombinant Adeno-Associated Virus (rAAV) vector design and production technology; and a fully…
The U.S. Food and Drug Administration (FDA) has designated AGIL-FA, a gene therapy from Agilis Biotherapeutics intended as a potential treatment of Friedreich’s ataxia (FA), an Orphan Drug, a designation that speeds its development and testing. “Having the first gene therapy product candidate to receive orphan drug designation from the FDA for…
Whether or not to participate in a clinical trial is a hard decision to make — but when it comes to deciding for a child, the task can be the hardest of a lifetime. When Sandra Sojka Lagedrost’s daughter Joanna was only 10 years old and diagnosed with Friedreich’s ataxia (FA) questions…
A new form of sun protection that works by chelating, or binding, excess iron within mitochondria may not only protect against UVA rays that current lotions are unable to block, but also lead to new treatments for Friedreich’s ataxia (FA). The compound, named “mitoiron claw” by the scientific team in the U.K. that developed it, is thought capable…
The Friedreich’s Ataxia Research Alliance (FARA) has announced the 2016 winners of the Ataxian Athlete Initiative (AAI), a unique program providing adaptive cycling equipment to people with ataxia who have shown a strong commitment to staying healthy and fit despite their progressive illness. Since 2009, 33 people have been…
The Friedreich’s Ataxia Research Alliance (FARA) joined the California NAACP and other patient advocacy groups to listen to opinions and concerns about SB 1010 — a controversial California state bill that could potentially impact Friedreich’s ataxia (FA) care in the state. Those opposed to the bill, sponsored by state Sen. Ed Hernandez, claim it “prioritizes…
Jupiter Orphan Therapeutics Inc. (JOT) announced that David Sinclair, a Harvard Medical School professor with an interest in the dietary supplement resveratrol and its potential benefit in treating diseases such as Friedreich’s ataxia (FA), has joined the company as the co-chairman of its scientific advisory board. Professor…
The U.S. Food and Drug Administration’s (FDA) Office of Orphan Products Development recently granted orphan drug designation to Retrotope‘s stabilized fatty acid drug (RT001) for the treatment of Friedreich’s taxia (FA). The FDA designation follows a statement from the company that RT001 was well tolerated by patients with FA without…
Global Genes, a leading rare genetic disease advocacy organization, has just announced the winners of its inaugural RARE Patient Impact Grant Program, an initiative first launched at the 2015 Rare Tribute to Champions of Hope. Included in the awardees is the Friedreich’s ataxia leading advocacy organization, Friedreich’s Ataxia…
Agilis Biotherapeutics, LLC, and Waisman Biomanufacturing have signed an exclusive partnership agreement to develop and produce AGIL-FA, Agilis’ potential gene therapy for the treatment of Friedreich’s ataxia (FA). Agilis, a biotechnology company specializing in therapies for rare genetic diseases that affect the central nervous system (CNS), and Waisman, a nonprofit gene…
University of Texas (UT) Southwestern Medical Center researchers have identified RNA and DNA synthetic agents that increase frataxin levels and alleviate Friedreich’s ataxia (FA), suggesting that synthetic nucleic acids that target the specific disease-causing mutation can be lead compounds for FA therapy. The research paper, “Activating frataxin expression by repeat-targeted nucleic acids,”…
Retrotope announced the completion of a first dosing cohort, and the opening of patient enrollment for a highest dose cohort, in its ongoing, 28-day clinical study of orally dosed RT001 in Friedreich’s ataxia (FA) patients. The treatment to date has been well-tolerated, with no serious adverse effects or dose limiting toxicities, the pharmaceutical company reported. “We…
Researchers have demonstrated in the lab (in vitro) and in living subjects (in vivo), that gene transfer of brain-derived neurotrophic factor (BDNF) protected models of Friedreich’s ataxia from neuronal degenerative death, providing a proof of principle that neurotrophins might be a therapeutic option to prevent and treat neurodegeneration associated with Friedreich’s ataxia.
RaNA Therapeutics, a Cambridge, Massachusetts-based biotech company that develops next-generation RNA-targeted medicines and which currently has a lead program in Friedreich’s Ataxia, announced that its CEO Ronald Renaud will present a corporate overview on Feb. 8 at the 18th annual BIO CEO & Investor Conference in New York City. RaNA’s management will also…
Avalanche Biotechnologies, Inc., announced that it has entered into a “definitive agreement” to acquire the French company Annapurna Therapeutics SAS. The merger, expected to close by mid-2016, has been approved by the boards of directors of both companies but is subject to approval by Avalanche stockholders. Under the agreement’s terms, Avalanche will acquire the totality…
Chondrial Therapeutics recently announced that further development of its lead drug candidate for the treatment of Friedreich’s ataxia, TAT-Frataxin (TAT-FXN), will be aided by researchers with the Therapeutics for Rare and Neglected Diseases (TRND) program, run through the National Institutes of Health (NIH), with the aim of filing an Investigational New Drug (IND) application for the therapy and…
Catabasis Pharmaceuticals, Inc., recently announced that it will receive the Kyle Bryant Translational Research Award, given by the Friedreich’s Ataxia Research Alliance (FARA), to further evaluate CAT-4001, a potential Friedreich’s ataxia (FA) drug. CAT-4001 is being developed by Catabasis as a potential treatment for neurodegenerative diseases, such as FA and amyotrophic lateral…
Annapurna Therapeutics has just announced it will collaborate with Weill Cornell Medicine to develop a market-leading partnership specialized in gene therapy. One of these therapies currently under Annapurna’s exclusive development targets cardiomyopathy as it is associated with Friedreich’s ataxia, a disease that affects between 10,000 and 20,000 people in the U.S. and Europe. Friedreich’s ataxia…
Retrotope recently announced a second clinical trial site, the Collaborative Neuroscience Network, LLC (CNS), has opened in Long Beach, California, as part of the company’s ongoing 28-day, first-in-human randomized, double-blind, controlled, ascending dose study of orally dosed experimental therapy RT001. The study will evaluate the safety, tolerability, pharmacokinetics (PK), disease state and exploratory endpoints in…
A team of researchers have identified six new, highly specific compounds that hold promise of bringing “new perspectives” to the treatment of Friedreich’s ataxia (FA). The research, entitled “A Yeast/Drosophila Screen to Identify New Compounds Overcoming Frataxin Deficiency,” was published in Oxidative Medicine and Cellular Longevity. FA is a neuromuscular…
A symposium focused on the rare genetic disease Friedreich’s ataxia, titled, “Understanding Energy for A Cure“, will gather some of the most prominent researchers and disease experts under one roof and help bridge the communication gap between patients and reliable sources of information and updates on FA. The event is hosted by the University…
The Muscular Dystrophy Association (MDA), together with the Friedreich’s Ataxia Research Alliance (FARA), have announced a new strategic partnership geared towards discovering better ways to address Friedreich’s Ataxia (FA) through advancing research, therapeutic development and clinical care. This alliance further strengthens the former’s dedication to forming partnerships both with for- and not-for-profit…
The Muscular Dystrophy Association, the world’s leading nonprofit health agency dedicated to save and improve the lives of people with muscle disease amyotrophic lateral sclerosis (ALS) and other neuromuscular diseases, recently announced it awarded some of the world’s most promising and esteemed scientists research grants amounting to $10 million to fund…
The National Ataxia Foundation, an organization dedicated to improving the lives of those affected by ataxia through support, education and research, is counting down the days to the 16th Annual International Ataxia Awareness Day on September 25, 2015, which will help bring together ataxia organizations from all over the globe in…
Retrope, Inc., a privately held clinical-stage pharmaceutical company leading the advance of a revolutionary new unifying theory of aging and degeneration, has just opened patient enrolment for a 28-day, first-in-human, randomized, double-blind, controlled, ascending dose study of oral drug RT001. The study aims to determine the drug’s safety, tolerability and pharmacokinetic profile,…
Gene-therapy specialist company, AAVLife, recently acquired a patent from the United States Patent and Trademark Office for an experimental treatment of cardiomyopathy caused by the genetic disorder, Friedreich’s ataxia, which affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time and commonly…
The Friedrich’s Ataxia Research Alliance (FARA), a non-profit organization that supports scientific research aimed at finding treatments and a cure for FA, will be the benefactor of charity biking event rideATAXIA, which will feature biking icon and star of the movie “The Ataxian“, Kyle Bryant. The 4th year of RideATAXIA…
Horizon Pharma has recently announced it initiated a Phase 3 study evaluating the Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich’s Ataxia study (“STEADFAST”) of ACTIMMUNE (interferon gamma-1b) for the treatment of people with Friedreich’s Ataxia (FA). ACTIMMUNE (Interferon gamma 1-b) is a biologically manufactured protein similar to…
The Research Acceleration and Innovation Network (TRAIN) has invited nonprofit organization Friedreich’s Ataxia Research Alliance (FARA), which works nationwide to support research and find a cure for the rare neuromuscular disease Friedreich’s ataxia (FA), to join its network of organizations. The program was launched in 2005 by FasterCures and…
Specialty biopharmaceutical Horizon Pharma plc has been awarded Fast Track status from the U.S. Food and Drug Administration (FDA) for the company’s ACTIMMUNE (interferon gamma-1b) to be used in patients with Friedreich’s ataxia (FA). ACTIMMUNE is a biologically developed protein resembling one produced naturally by the body to prevent infection,…
In a recent article titled “Consensus clinical management guidelines for Friedreich ataxia” published in the journal Orphanet Journal of Rare Diseases, Louise Corben from the Children’s Research Institute, Australia and colleagues on behalf of the Clinical Management Guidelines Writing Group Murdoch reviewed the…
Intrexon Corporation has made an offer for the total acquisition of Exemplar Genetics, which is a company dedicated to study the treatment of life-threatening conditions, such as Friedreich’s ataxia, heart disease, cancer, cystic fibrosis, cardiac arrhythmia, as well as neuromuscular and neurodegenerative disorders. The company provides transgenic…
Specialty biopharmaceutical company Horizon Pharma plc has released a business update on its primary care and orphan divisions, announcing that the U.S. Food and Drug Administration (FDA) has agreed on the primary endpoint for the phase 3 study dedicated to a potential Friedreich’s Ataxia (FA), called ACTIMMUNE.
A new study on Friedreich’s Ataxia entitled “Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia,” was recently published in the journal Cerebellum. Friedreich’s ataxia (FRDA) is an autosomal recessive disease, with gait ataxia being the main source of morbidity. Mobility…
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