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Daily dosing of CTI-1601, a lab-made, modified version of frataxin — the protein lacking in people with Friedreich’s ataxia (FA) — for 13 days led to a dose-dependent increase in frataxin levels compared to placebo, top-line data from a Phase 1 study show. Patients treated with the two…
More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…
The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…
GeneDx has expanded its list of genetic tests to include the analysis of expansion repeats that underlie adult-onset ataxias, including Friedreich’s ataxia (FA), spinocerebellar ataxia, and other forms of inherited ataxias. With this expansion, GeneDx — a subsidiary of BioReference Laboratories, part of the OPKO Health company —…
The U.S. Food and Drug Administration (FDA) has granted rare pediatric disease and fast track designations to Retrotope’s investigational therapy RT001 for the treatment of Friedreich’s ataxia (FA), the company announced in a press release. RT001 also received orphan drug designation from the European Medicines Agency (EMA)…
Lexeo Therapeutics recently launched with an initial funding of $85 million to develop gene therapies for Friedreich’s ataxia (FA) and other disorders. The proceeds will support the clinical development of three gene therapy programs, including an anticipated Phase 1 trial this year to test LX2006 for FA-associated heart…
Eye health correlates with neurological disability in people with Friedreich’s ataxia (FA), a clinical study reports. These findings support the potential of specific measures of vision and eye health to evaluate disease progression in this patient population, the scientists said. The study “Ocular Involvement in Friedreich Ataxia Patients and…
The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…
Exenatide, a drug that mimics the effects of the gut hormone GLP-1, increased the levels of frataxin — a protein involved in iron metabolism, whose deficiency leads to Friedreich’s ataxia (FA) — in a mouse model of the disease, a new study shows. Treatment with exanatide also improved the…
A natural genetic mechanism may help reverse the genetic defect within the FXN gene — excessive repeats of a portion of DNA, called GAA triplets — that underlie Friedreich’s ataxia (FA), a recent study done in yeast shows. Researchers have found that a process that occurs while cells are…
A Phase 1 trial evaluating Chondrial Therapeutic’s investigational therapy CTI-1601 as a treatment for Friedreich’s ataxia patients has started dosing patients. The therapy was recently granted rare pediatric disease and fast track designations by the U.S. Food and Drug Administration (FDA), in addition to its…
Seelos Therapeutics received a Notice of Allowance from the U.S. Patent and Trademark Office (USPTO) covering the parenteral, or non-oral administration of SLS-005 (trehalose) for the treatment of neurodegenerative diseases characterized by abnormal protein aggregates. The Notice of Allowance allows Seelos Therapeutics to finalize a patent — number…
Friedreich’s ataxia can occur as a late-onset disease, with symptoms appearing after age 50, a case-report shows. Late-onset cases lack the typical symptoms and disease progresses slowly, highlighting the need for genetic testing in cases of older patients showing difficulty coordinating movements or other atypical presentations to confirm the diagnosis. The…
Seelos Therapeutics received a Notice of Allowance from the United States Patent and Trademark Office covering the use of SLS-005 (trehalose) for the treatment of Friedreich’s ataxia. A Notice of Allowance allows Seelos Therapeutics to finalize a patent for SLS-005 for the treatment of the disease.
The oral glucose tolerance test showed higher sensitivity, compared with other diagnostic tools, and was able to detect up to three times more metabolic abnormalities in Friedreich ataxia patients, who commonly experience diabetes and impaired sugar tolerance, according to a small study. “Clinicians in charge of Friedreich ataxia patients and researchers…
Takeda and StrideBio have established a collaboration to develop new, more effective adeno-associated viruses (AAV) to be used as vehicles for in vivo delivery of gene therapies for Friedreich’s ataxia (FA) and other diseases. “StrideBio’s expertise and unique gene therapy technology holds great potential for significantly advancing…
A large, European registry study shows that Friedreich’s ataxia patients have a considerable spectrum of clinical symptoms that go beyond the typical neurological ataxia. Common non-neurologic clinical symptoms identified by researchers included abnormal eye movements and skeletal deformities, as well as urinary problems and heart disease. Their study, “Nonataxia…
A group of researchers compiled a database of small RNAs that circulate in the blood of Friedreich’s ataxia (FA) patients with different disease symptoms. Researchers hope this resource will assist research into FA’s mechanisms and possibly identify biomarkers of disease progression and patients’ response to treatment. The study,…
As therapies for Friedreich’s ataxia seek to increase the amount of frataxin, whose shortage underlies the disease, scientists conducting an in vitro study warn that levels of the protein must be tightly regulated because overproduction may result in detrimental effects. The study, “Adding a temporal dimension to the…
Compounds similar to the chemical methylene blue, which has been shown to have therapeutic benefits in several diseases, were seen to increase frataxin levels and the production of mitochondria in Friedreich’s ataxia (FA) cells. The study, “Lipophilic methylene blue analogues enhance mitochondrial function and increase frataxin levels in a…
Retrotope has submitted the design of a pivotal clinical trial for its Friedreich’s ataxia therapy RT001 to the U.S. Food and Drug Administration. The submission was prompted by results of a Phase 1/2 trial showing that the therapy was safe and exhibited early signs of effectiveness — an ability to improve patients’ physical functioning. A…
Results from a Phase 1/2 clinical study support the safety and tolerability of RT001, an investigational therapy for Friedreich’s ataxia. Patients treated with RT001 also were seen to improve in physical functioning tests. The study, “Randomized, clinical trial of RT001: Early signals of efficacy in Friedreich’s ataxia,” was published…
Researchers found that the use of mobility devices is associated with a poorer quality of life in children with Friedreich’s ataxia (FA). The study, “Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia,” was published in the Journal of Child Neurology. Friedreich’s ataxia is a…
EURORDIS-Rare Diseases Europe teamed up with biotech Shire and software giant Microsoft to establish the Global Commission to End the Diagnostic Odyssey for Children to tackle and end the delay in diagnosing rare diseases. Patients with rare diseases such as Friedreich’s ataxia (FA), half of them children,…
Australian researchers say a short-term rehabilitation program improved the health and well-being of a small group of patients with Friedreich’s ataxia (FA). The study, “Can rehabilitation improve the health and well-being in Friedreich’s ataxia: a randomized controlled trial?” appeared in the journal Clinical Rehabilitation. Researchers evaluated the effects…
Administering small molecules that mimic factors naturally found in the brain to a mouse model of Friedreich’s ataxia increased levels of frataxin expression in both the brain and heart — two organs highly affected in people with the disease. The study, “Neurotrophic factor and cytokine mimetics as new potential therapeutic agents for Friedreich’s…
New viral vectors were found to effectively transfer a normal and protein-producing frataxin gene into major tissues affected by Friedreich’s ataxia — including the brain and the heart — in non-human primates, a new study showed. The study was presented by Holger Patzke of Voyager Therapeutics at IARC 2017 in a presentation Saturday titled “Intravenous delivery of AAV gene therapy to…
Using a gene therapy strategy similar to one previously shown to reverse heart problems in a Friedreich’s ataxia mouse model, researchers also corrected sensory symptoms associated with the disease in another mouse model. These results suggest that gene therapy may effectively treat different features of Friedreich’s ataxia. Hélène Puccio with the Institut de Genetique…
Omaveloxolone (RTA 408), an investigation medicine by Reata Pharmaceuticals, improves neurological function in people with Friedreich’s ataxia, according to results from part one of the MOXIe trial presented today at IARC 2017. David Lynch, a pediatric neurologist at Children’s Hospital of Philadelphia and a principal investigator for the Phase 2 clinical study, delivered these…
Giving mice who serve as a model of cardiac defects in Friedreich’s ataxia a molecule known to improve heart function in cardiac mice did help to improve how their hearts worked — but only if a mitochondrial protein, known as SIRT3, was present, a study reported at IARC 2017. Angel Martin, of…
Patients with spinocerebellar ataxia 38 (SCA38) showed improved scores in two different scales — SARA (Scale for the Assessment and Rating of Ataxia) and ICARS (International Cooperative Ataxia Rating Scale) — after about 24 weeks of using docosahexaenoic acid (DHA) as a supplement, a study reported at IARC 2017. DHA is…
Ataxia patients who took part in a new, at-home program for speech impairment showed significant improvements in their ability both to speak more clearly and retain vocal control, results of a small four-week study showed. These findings were presented in an IARC 2017 poster session by Adam P. Vogel with the…
A new set of small molecules specifically targeting the ubiquitin degradation system inside cells was found to effectively increase frataxin protein levels in several cell types taken from Friedreich’s ataxia (FA) patients, and merits further investigation. The study reporting these findings, “Highly specific ubiquitin-competing molecules promote frataxin accumulation in Friedreich ataxia iPSC-derived neuronal…
The degree of genetic defects in the frataxin gene appears to result in adults with Friedreich’s ataxia having a relatively smaller left ventricle in the heart, a study presented as a poster at IARC 2017 reported. The poster was presented by Roger Peverill of the Monash Cardiovascular Research Centre at Monash…
Synthetic molecules were able to increase frataxin protein levels in cells taken from Friedreich’s ataxia patients to levels near those found in cells of healthy people, results of an early study, reported at IARC 2017, showed. The presentation, by David Corey at the University of Texas Southwestern, was titled “Activation of…
Patients with different types of spinocerebellar ataxias showed significant improvement in their ability to hear and perceive complex sounds — essential to participating in everyday conversations — when wearing a wireless listening device, a small study showed. The data was presented at IARC 2017 by Kay Uus with the University of Manchester on…
Clinical trials to assess changes in the motor skills of Friedreich’s ataxia patients can and should include physical tests — specifically, the so-called exercise stress test performed on adaptive equipment, a new study reports. The study was presented by Kimberly Lin of The Children’s Hospital of Philadelphia and the Perelman School of Medicine…
Problems in the somatosensory (sensory nervous) and auditory systems of patients with Friedreich’s ataxia are potential biomarkers of early sensory damage, according to a small study. The research, “Cortical responses and change detection to auditory and somatosensory stimuli in Friedreich ataxia,” was presented at IARC 2017 by Gilles Naeije of the Service…
Although clinical manifestations of their disease varies widely, patients with most common types of spinocerebellar ataxias (SCA) experience a similar decline in quality of life and daily activities, according to results from the long-term EUROSCA study presented at IARC 2017 on Thursday. The results were given by Heike Jacobi with the German…
People with Friedreich’s ataxia lose the crucial capacity to move freely around age 25, according to a large and ongoing study by an international network of clinical centers devoted to research into this common ataxia. The study, “Detailing the natural history of Friedreich’s ataxia – loss of ambulation in the CCRN-FA study,”…
The European Union is supporting a number of projects focused on the natural history of several spinocerebellar ataxias, projects that look at disease course over time — from onset to resolution — in a person. A better understanding of SCAs natural history will offer insights into disease progression, markers of progression, and potentially…
The European Friedreich Ataxia Consortium for Translational Studies (EFACTS) group suggested specific outcome measures it found to be best suited to clinical trials testing possible treatments for Friedreich’s ataxia, and emphasized that studies looking at disease-modifying therapies need to run for at least two years. Jörg Schulz, a neurologist at RWTH…
Delivery of a small RNA molecule (microRNA), called let-7, directly into the brain rescued motor impairments in a mouse model of Machado-Joseph disease, researchers at Center for Neuroscience and Cell Biology in Coimbra, Portugal, reported at IARC 2017. Their study, “Let-7 activates autophagy and alleviates motor and neuropathological deficits in…
Regular and long-term aerobic exercise — in this case, running — slowed the start of Friedreich’s ataxia symptoms and prevented metabolic abnormalities in a mouse model of the disease, researchers report, calling their findings evidence that exercise offers “profound protection” if started at a young age. The oral presentation, “Voluntary running prevents onset of symptomatic…
In Friedreich’s ataxia, insufficient frataxin protein in cells impairs the ability of mitochondria to control the production of harmful reactive oxygen species, which accumulates and ultimately triggers nerve cell death, research into a mouse model of the disease revealed. The study, detailing how harm done to mitochondria in nerve cells helps to promote…
A new mouse model of Friedreich’s ataxia, detailed at IARC 2017, exhibits human features of the disease and has the potential to be of ” broad utility” in research into the underlying mechanisms of this common ataxia and ways to fight it. Its development was discussed at a Thursday session, “Translational Models of…
New research, presented at IARC 2017, showed that the frataxin gene in cells taken from Friedreich’s ataxia patients produces very little of the frataxin protein in part due to epigenetic marks that essentially tell the gene to switch off. These findings suggest that targeting the epigenetic remodeling of frataxin gene…
A protein called RNF126 mediates the degradation of the frataxin protein in cells of people with Friedreich’s ataxia, a new study presented at IARC 2017 showed. Its researchers suggest that targeting this protein may be a way of treating the disease, as RNF126 inhibition allowed frataxin to accumulate in cells. The study, “E3 ligase RNF126 directly…
A next-generation sequencing technique known as whole exome sequencing (WES) led to new genetic variants for childhood-onset ataxias being identified — including some in genes not previously linked to ataxia, and some that are disease-causing when only one mutation is inherited — Finnish researchers reported at IARC 2017. The presentation, at Wednesday morning’s…
Recent advances in next-generation sequencing techniques are helping to revolutionize genetic testing, potentially ending the “diagnostic odyssey” that ataxia patients can now go through, researchers in Germany said in the opening presentation of the 2017 International Ataxia Research Conference (IARC) in Pisa, Italy. But with such advances come fresh questions and challenges, Matthis Synofzik at the…
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