Author Archives: Marta Figueiredo PhD

Design Therapeutics announced that it remains on track to launch the first clinical trial of its lead experimental candidate — gene-targeted chimera (GeneTAC) — for the treatment of Friedreich’s ataxia (FA) for the first half of 2022. The planned Phase 1 trial will test the therapy in patients,…

CRISPR Therapeutics has joined forces with Capsida Biotherapeutics to discover and develop new gene-editing therapies for Friedreich’s ataxia (FA) and familial amyotrophic lateral sclerosis (ALS). The partnership seeks to combine CRISPR Therapeutics’ gene-editing expertise using its proprietary CRISPR/Cas9 platform with Capsida’s tissue-targeted, adeno-associated virus (AAV)-based gene therapies.

Six months of treatment with interferon-gamma, known as IFN-gamma, is safe and leads to significant improvements in walking skills and stance in people with Friedreich’s ataxia (FA), according to a small study in Turkey. However, no significant improvements were observed in other areas of motor coordination, such as sitting, upper…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

The Friedreich’s Ataxia Center of Excellence of the Children’s Hospital of Philadelphia (CHOP) has been awarded a total of $1.275 million to advance research and clinical care of people with Friedreich’s ataxia (FA). The grant came from the Friedreich’s Ataxia Research Alliance (FARA), the Hamilton and Finneran families, and…

Exicure recently discussed preclinical research data and the next steps in developing XCUR-FXN, its investigational antisense oligonucleotide (ASO) therapy for Friedreich’s ataxia (FA), in a live webcast. After initiating investigational new drug (IND)-enabling studies of XCUR-FXN in late 2020 — intended to support regulatory clearance of clinical…

PTC Therapeutics has launched a Phase 3 clinical trial to evaluate its investigational oral therapy vatiquinone (PTC743) in children and young adults with Frederich’s ataxia (FA). The international trial had experienced earlier delays due to the COVID-19 pandemic. Called MOVE-FA (NCT04577352), it is meant to…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

The gene therapy startup AavantiBio has launched with $107 million in funding to advance its lead clinical program for the treatment of Friedreich’s ataxia (FA). Early this year, the Boston-based company received a $1 million grant from the Muscular Dystrophy Association (MDA)’s Venture Philanthropy Fund…

The Centers of Medicare & Medicaid Services (CMS) has approved a new, specific diagnosis code for Friedreich’s ataxia (FA) to be used by clinicians in medical records and examined by health insurance companies to determine coverage. “We believe the new FA specific ICD-10 code G11.11 will lead to…

Simultaneous suppression of two histone methyltransferases (HMTs) significantly increased the activity of the FXN gene in cells derived from people with Friedreich’s ataxia (FA) and in a mouse model of the disease. However, this boost in FXN activity failed to raise the levels of its resulting protein, frataxin,…

A safety and tolerability study of Larimar Therapeutics’ investigational therapy CTI-1601 has started dosing a third and final group of Friedreich’s ataxia (FA) patients, after a temporary pause due to the COVID-19 pandemic. “We’re pleased that our Phase 1 clinical trial has resumed and we…

Children younger than age 8 with symptoms of Friedreich’s ataxia are at a higher risk of faster disease progression and earlier loss of walking abilities, a single-center natural history study in Belgium reported. The findings were consistent with previous results from another natural history study, and may help to guide treatment…

Altered regulation of a protein called actin may contribute to neurodegeneration in Friedreich’s ataxia, according to a study in a mouse model of the disease. The work highlighted a potential association between the underlying cause of FA (lack of the frataxin protein) and both over-activation of…

The COVID-19 pandemic has not affected the preclinical program of XCUR-FXN, an experimental treatment for Friedreich’s ataxia (FA), Illinois-based Exicure said. Since biotechnology companies were designated essential businesses by the state’s governor J.B. Pritzker, Exicure will continue its research programs despite the the “stay-at-home” order in…

Design Therapeutics has launched with $45 million in funding to advance its lead candidate for the treatment of Friedreich’s ataxia into clinical development, and support programs for other nucleotide repeat disorders such as fragile X syndrome, and myotonic dystrophy. These genetic diseases are caused by excessive repeats…

Physical impairments that worsen with disease progression are the main contributors to a poor health-related quality of life among people with Friedreich’s ataxia (FA), according to a recent study. Data also showed that quality of life measures effectively reflected disease progression in FA patients. That suggests they could be…

Etravirine — an approved anti-viral therapy for HIV — is expected to soon enter clinical testing as a potential new treatment for Friedreich’s ataxia (FA) in a pilot Phase 2 trial taking place in Italy. The proof-of-concept study (NCT04273165), called FAEST1, which is being conducted…

Minoryx Therapeutics’ lead investigational therapy leriglitazone (MIN-102) has been granted orphan drug designation by the European Commission for treating patients with Friedreich’s ataxia (FA). The European Commission’s decision follows a similar designation granted by the U.S. Food and Drug Administration in October. Orphan designation is given to investigative therapies…

Removal of the genetic defect that causes Friedreich’s ataxia (FA) in heart cells derived from a patient with heart disease associated with FA reversed the cells’ abnormal molecular profile, a study shows. This gene-editing strategy could be a useful tool for regenerative medicine aimed at treating heart defects associated…

Muscle stimulation through focal vibrations produced by a specialized device may prevent further deterioration of motor function in children with cerebellar ataxia, but not in Friedreich’s ataxia patients, according to a small study. The study, “Non-invasive Focal Mechanical Vibrations Delivered by Wearable Devices: An Open-Label Pilot Study…

A treatment approach that uses genetically engineered proteins was able to significantly increase the levels of expression of the FXN gene, which is mutated in Friedreich’s ataxia, allowing for greater frataxin protein to be produced in patients’ cells and in a mouse model of the disease. These findings suggest…

Friedreich’s ataxia patients produce less sweat than healthy people, which may be a useful biomarker of disease severity and progression, a recent study suggests. The study, “Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia,” was published in the journal Clinical Neurophysiology. Patients…

Omaveloxolone, Reata Pharmaceuticals’ investigational candidate for the treatment of Friedreich’s ataxia (FA), has been granted orphan drug status from the European Medicines Agency. The EMA’s decision follows orphan drug designation from the U.S. Food and Drug Administration granted in June 2017. These designations are expected to…

The clinical benefits of stem cell therapy in Friedreich’s ataxia patients will be assessed in a small pilot study at the University of Bristol in the United Kingdom. Friedreich’s ataxia (FA) is a rare neurodegenerative disorder caused by mutations in the FXN gene, which contains instructions to produce frataxin, an essential…