Author Archives: Patricia Inacio PhD

GeneDx Expands Its Genetic Tests to Adult Forms of Ataxias

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 —…

FDA Puts RT001 on Fast Track as Possible FA Therapy

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)…

Startup Lexeo Raises $85M to Pursue 3 New Gene Therapies

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…

Seelos Therapeutics Gets US Patent Protection Covering Investigational SLS-005 for Neurodegenerative Diseases

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 Emerge After Age 50, Case Study Shows

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…

Oral Glucose Tolerance Test Better at Diagnosing Friedreich Ataxia-Associated Diabetes, Study Suggests

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…

Eye Movement and Skeletal Abnormalities Common in Friedreich’s Ataxia Patients, Registry Study Finds

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…

#IARC2017 – Small Molecules Mimicking Brain Factors Raise Frataxin Protein Levels in FA Mice in Study

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…

#IARC2017 – Protein-producing Frataxin Gene Delivered to Brain, Heart of Primates in Gene Therapy Study

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…

#IARC2017 (Exclusive Interview) – Gene Therapy Seen to Reverse Sensory Ataxia in FA Mouse Model

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…

#IARC2017 – Omaveloxolone Can Aid Neurological Function in FA Patients, MOXIe Trial Shows

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…

#IARC2017 – Newly Potent Small Molecules Help Frataxin to Build Up in Cells, FA Study Finds

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…

#IARC2017 – Exercise Stress Tests Can Be Valid Part of FA Studies if Adaptive Equipment Used

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…

#IARC2017 – Possible FA Biomarkers Seen in Early Sensory Damage Linked to Mutation’s Degree

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…

#IARC2017 – Decline in Quality of Life Similar Among People with Most Common SCAs, EUROSCA Study Reports

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…

#IARC2017 (Exclusive Interview) – Walking Ability in FA Shows Decline Until Age 25, When It’s Lost, CCRN Reports

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,”…

#IARC2017 – Natural History of FA May Help Tailor More Effective Clinical Trials, EFACTS Suggests

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…

#IARC2017 – MicroRNA Delivered to Brain Seen to Ease Neurological and Motor Problems in Machado-Joseph Mouse Model

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…

#IARC2017 (Exclusive Interview) – Aerobic Exercise Seen to Slow FA Onset in Mice, May Have ‘Huge Impact’ on Disease

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…

#IARC2017 – Mitochondria, Deprived of Frataxin Protein, Fail to Control Free Radicals in Cells, FA Study Finds

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…

#IARC2017 – Possible FA Treatment Seen in Blocking Protein Linked to Frataxin Degradation

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…

#IARC2017 – New Genetic Variants May Explain Childhood-onset Ataxias, Finnish Study Suggests

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…

#IARC2017 – New Gene Sequencing Techniques May Lead to Faster Diagnosis, Better Therapies

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…