Neurocrine Biosciences and Voyager Therapeutics to expect IND filings in 2025

February 13, 2025. 

“We are encouraged that our novel TRACER capsids continue to perform consistently across multiple programs, and we believe they have the potential to transform gene therapy for CNS diseases. We continue to expect IND filings in 2025 for our gene therapy candidates for GBA1 and FA, and in 2026 for VY1706,” said Sandrock, Jr., in the press release

Patient involvement in clinical trials: a paradigm shift in research

Pijuan, J., Palau, F. Patient involvement in clinical trials: a paradigm shift in research. Orphanet J Rare Dis 20, 63 (2025). doi:10.1186/s13023-025-03573-y 

 Establishing universal guidelines will help ensure that all stakeholders (patients, caregivers and health professionals) can engage meaningfully in the developmental processes of healthcare initiatives. Given that health and disease affect us all, fostering collective involvement is essential for driving progress in this field.

Living with Friedreich Ataxia: Carla, Maria and Nuria

Biogen. February 11, 2025

Watch below to hear Carla, Maria and Nuria share their stories of living with FA.

 

Editorial: The mechanistic investigation and emerging therapies for Friedreich’s ataxia

Dong Y, Chandran V, Soragni E and Lynch DR (2025) Editorial: The mechanistic investigation and emerging therapies for Friedreich’s ataxia. Front. Pharmacol. 16:1560808. doi: 10.3389/fphar.2025.1560808

KosBio is a pioneering biotechnology startup: to develop an innovative treatment for Friedreich’s Ataxia (FRDA)

KosBio is a pioneering biotechnology startup, born out of a deeply personal and transformative mission: to develop an innovative treatment for Friedreich’s Ataxia (FRDA), a rare and incurable neurodegenerative disease. Our founders, intimately connected to FRDA through their own family experiences, bring a unique level of commitment and dedication to this mission, distinguishing KosBio in the competitive biotech landscape. 

 Leading our therapeutic pipeline is KB-001(TM), a therapy based on repurposing an FDA-approved drug to activate a developmental signaling pathway relevant to FRDA. This strategic approach not only expedites the path to treatment but also reduces potential risks by leveraging existing approved drugs. 

In addition, KosBio is advancing the development of a series of novel, patented drugs (KB002-KB021). These drugs are projected to have significantly greater potency than KB-001(TM), marking a substantial advancement in our therapeutic arsenal.

Functional Characterization of Parallel Fiber-Purkinje Cell Synapses in Two Friedreich's Ataxia Mouse Models

Joseph DJ, Mercado-Ayon E, Flatley L, Viaene AN, Hordeaux J, Marsh ED, Lynch DR. Functional Characterization of Parallel Fiber-Purkinje Cell Synapses in Two Friedreich's Ataxia Mouse Models. Cerebellum. 2025 Feb 5;24(2):42. doi: 10.1007/s12311-025-01796-0. PMID: 39907933; PMCID: PMC11799031.

To investigate the neural circuit basis of this dysfunction, we employed field recordings to measure Purkinje cell (PC) function and synaptic properties along with western blotting and immunohistochemistry to determine their density and structure in two established FRDA mouse models, the shRNA-frataxin (FRDAkd) and the frataxin knock in-knockout (KIKO) mice. Western blotting demonstrated subtle changes in mitochondrial proteins and only a modest reduction in the density of calbindin positive cells PCs in the cerebellar cortex of the FRDAkd mice, with no change in the density of PCs in the KIKO mice. Though PC density differed slightly in the two models, field recordings of parallel fiber-PC synapses in the molecular layer demonstrated concordant hypo-excitability of basal synaptic transmission and impairments of long-term plasticity using induction protocols associated with both potentiation and depression of synaptic strength. These results indicate that synaptic instability might be a common feature in FRDA mouse models.

Heart Gene Therapy Astellas Withdrawing

Astellas Pharma Inc., February 4, 2025Q3 YTD/FY2024 Financial Results (pg 13 and 33)

Pandolfo M. Friedreich Ataxia: An (Almost) 30-Year History After Gene Discovery

Pandolfo M. Friedreich Ataxia: An (Almost) 30-Year History After Gene Discovery. Neurol Genet. 2025 Jan 13;11(1):e200236. doi: 10.1212/NXG.0000000000200236. PMID: 39810753; PMCID: PMC11731367. 

 Now, 28 years after the gene discovery, although much remains to be understood about the disease's mechanisms and the development of effective therapies, the progress is undeniable. A thriving community has emerged, uniting researchers, health care providers, industry professionals, individuals with FRDA, their families, and dedicated volunteers. With this collective effort, a cure is within reach.

Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the “acERca las enfermedades raras” project

Hernández-Rodríguez, J., Martínez-Valle, F., Acebes, X. et al. Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the “acERca las enfermedades raras” project. Orphanet J Rare Dis 20, 42 (2025). Doi:10.1186/s13023-024-03518-x 

 Based on the criteria of equity and equality for which a public healthcare must be guaranteed to all citizens, PLWRD have also the right to access to all the available resources in a way that is as agile and equal as for other patients. The expert participants considered that the current Catalan healthcare model for RDs consists of a pioneer and advanced plan, unique in Spain, consisting of a functional network of qualified reference centers (XUECs), following the European model of the ERN thematic areas.

Unraveling Mechanisms and Potential Treatment of Cardiomyopathy in Friedreich’s Ataxia

Published on January 30, 2025 in Cornerstone Blog. Studying both patient-derived cardiac cells and zebrafish models will help Drs. Wilson and Pei to identify potential inflammatory signaling that may exacerbate FA.