FDA Extends Review of Omaveloxolone in Friedreich Ataxia

August 9, 2022. After Reata Pharmaceuticals submitted an analysis from the MOXIe extension study of the investigational agent as part of the NDA submission, the FDA extended the PDUFA date to February 2023.

Reata continues to hit FDA roadblocks with its Friedreich’s ataxia candidate, noting regulator 'concerns'

Endpoints News. August 8, 2022. 

Reata Pharmaceuticals is facing an FDA wall on its small molecule candidate to treat Friedreich’s ataxia, omaveloxolone. According to the company’s Q2 report, the FDA might still not be sold on the drug. 

 “[The FDA] continues to have concerns regarding the strength of the efficacy evidence. The FDA did not identify any significant clinical safety issues. The FDA stated that the safety review is ongoing, and they are continuing to evaluate the cardiac safety of omaveloxolone in patients with Friedreich’s ataxia. They have not identified any other major safety concerns at this stage of their review,” the Q2 report said. 

 The FDA is expected to make its decision by Nov. 30. Reata stressed it’s still waiting to receive formal minutes from its mid-cycle review meeting with regulators.

Design Therapeutics Highlights Upcoming Milestones and Reports Second Quarter 2022

CARLSBAD, Calif., Aug. 08, 2022 (GLOBE NEWSWIRE) -- Design Therapeutics, Inc. (Nasdaq: DSGN), a clinical-stage biotechnology company developing treatments for serious degenerative genetic diseases, today highlighted anticipated upcoming milestones across its clinical and research-stage pipeline of novel GeneTAC™ small molecules and reported second quarter 2022 financial results.

Initial Data from Single-Ascending Dose Portion of Phase 1 trial for DT-216 Expected in the Fourth Quarter of 2022: DT-216, Design’s lead GeneTAC™ molecule, is designed to treat FA by specifically targeting the GAA repeat expansion mutation, the underlying cause of disease, and restore frataxin (FXN) gene expression. DT-216 is being evaluated in a Phase 1 clinical trial in adult patients with FA. The company plans to report initial data, including safety, tolerability, pharmacokinetics and FXN levels from the single-ascending dose portion of the trial in the fourth quarter of 2022. Design expects to initiate dosing of DT-216 in the multiple-ascending dose portion of the Phase 1 study in the second half of 2022.

Ataxia de friedreich, lucha por la supervivencia

Beatriz Miguel Palacios. Diplomada en Fisioterapia. Hospital Universitario Miguel Servet. Zaragoza, Nuria Bedoya Chocán. Celadora. Hospital Tres Mares. Reinosa, Cantabria., Nuria Sánchez Garrigós. Diplomada en Enfermería. Hospital General de Valdepeñas. Ciudad Real., María Teresa Bartolomé Bueno. FP2 Administrativo. Clínica del Pilar. Zaragoza., Noelia Loren Valles. Técnico en Cuidados Auxiliares de Enfermería. Hospital Miguel Servet. Zaragoza., José Antonio Ortín Clavería. Grado en Fisioterapia. Hospital Universitario Miguel Servet. Zaragoza.; REVISTA SANITARIA DE INVESTIGACIÓN, 5 agosto 2022, ISSN: 2660-7085 

PALABRAS CLAVE: Ataxias hereditarias, fisioterapia, ataxia cerebelosa, marcha, enfermedades cardiovasculares.

Lexeo to start phase I/II clinical trial for patients with FA cardiomyopathy.

5 ago 2022

Importance of an echocardiogram in the evaluation of ataxia

Stokreef S, Lemos M, Quintas S.; BMJ Case Reports CP 2022;15:e248691. doi:10.1136/bcr-2021-248691

We present the case of a boy in his middle childhood with gait ataxia and loss of reflexes with a 1-year onset. He had a background of an autism spectrum disorder but was otherwise healthy. A paediatric cardiology assessment was requested to investigate possible cardiac involvement associated to his neurological symptoms. Even though he had no cardiac symptoms and a normal electrocardiography, the echocardiogram revealed severe asymmetric left ventricle hypertrophy consistent with hypertrophic cardiomyopathy. This prompted genetic testing and the diagnosis of Friedreich’s ataxia was confirmed.

Unleashing the potential of AAV gene therapy

Biopharma Dealmakers (Biopharm Deal). 18/7/2022.

Voyager Therapeutics is unlocking the potential of adeno-associated virus gene therapy to treat a range of neurological disorders, broadening the therapeutic window while ensuring efficacy and safety. The company has already secured capsid option and license agreements with Novartis and Pfizer for target-specific use with CNS and cardiac muscle targets. Voyager also has an ongoing collaboration with Neurocrine Biosciences on a preclinical Friedreich’s ataxia (FA) program and two undisclosed discovery programs in which the company’s novel capsids may be deployed.

SCouT: Synthetic Counterfactuals via Spatiotemporal Transformers for Actionable Healthcare

Bhishma Dedhia, Roshini Balasubramanian, Niraj K. Jha; arXiv:2207.04208v1 [cs.AI] for this version); doi:10.48550/arXiv.2207.04208 (Computer Science > Artificial Intelligence)

We also generate actionable healthcare insights at the population and patient levels by simulating a state-wide public health policy to evaluate its effectiveness, an in silico trial for asthma medications to support randomized controlled trials, and a medical intervention for patients with Friedreich's ataxia to improve clinical decision-making and promote personalized therapy.

We simulate synthetic counterfactuals under a Calcitriol supplement intervention for a Friedreich’s ataxia (FA) patient.

Cardiovascular Research in Friedreich Ataxia

R. Mark Payne; J Am Coll Cardiol Basic Trans Science. null2022, 0 (0); doi:10.1016/j.jacbts.2022.04.005

Patients can develop a cardiomyopathy associated with heart failure and death. • A single gene defect decreases expression of FXN and may be amenable to therapy. • A need exists for greater basic and clinical investigations to advance therapies.

Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation

Imbault, Virginie; Dionisi, Chiara; Naeije, Gilles; Communi, David; Pandolfo, Massimo (2022). Frontiers. Collection. doi:10.3389/fnins.2022.885313 

This study supports the hypothesis that the quantitative analysis CSF proteins may provide robust biomarkers for clinical trials as well as shed light on pathogenic mechanisms. Interestingly, DEPs in FA patients CSF point to neurodegeneration and neuroinflammation processes that may respond to treatment.