Employment and work ability in individuals living with rare diseases: a systematic literature review

Bougas, N., Kangas, T., Vanthomme, K. et al. Employment and work ability in individuals living with rare diseases: a systematic literature review. Orphanet J Rare Dis 20, 193 (2025). doi:10.1186/s13023-025-03691-7 

These results show that individuals with rare diseases tend to have poor work outcomes, but methodological limitations hamper the understanding of health selection effects. Implications for future research and policy-making are discussed.

Biogen are withdrawing from the NICE appraisal for Skyclarys

Biogen. 24th April 2025​, Following your request for information, I want to inform you that Biogen has withdrawn omaveloxolone from the National Institute for Health and Care Excellence (NICE) appraisal process. This follows the news of the medicine’s approval by the Medicines and Healthcare products Regulatory Agency (MHRA) on 23rd April.

Artificial Intelligence‐Based Virtual Assistant for the Diagnostic Approach of Chronic Ataxias

Alessandro, L., Bianciotti, N., Salama, L., Volmaro, S., Navarrine, V., Ameghino, L., … & Rossi, M. Artificial Intelligence‐Based Virtual Assistant for the Diagnostic Approach of Chronic Ataxias. Movement Disorders. 22 March 2025. doi:10.1002/mds.30168

A non-commercial virtual assistant was developed using advanced algorithms, decision trees, and large language models. In the validation process, 453 clinical cases from the literature were selected from 151 causes of chronic ataxia. The diagnostic accuracy was compared with that of 21 neurologists specializing in movement disorders and GPT-4. Usability regarding time and number of questions needed were also evaluated.

Dietary and lifestyle interventions for the management of hereditary ataxias

Yang Wenyao , Thompson Bruce , Kwa Faith A. A. ;Dietary and lifestyle interventions for the management of hereditary ataxias. Frontiers in Nutrition Volume 12 - 2025. DOI=10.3389/fnut.2025.1548821 

 This review explains recent findings on dietary and nutraceutical interventions, as well as lifestyle modifications such as exercise and rehabilitation programs for HA. It outlines common types of HA, including Friedreich ataxia, spinocerebellar ataxias, ataxia with vitamin E deficiency, ataxia-telangiectasia, and studies on a mixed cohort of patients with HA.

MHRA approves first UK treatment for Friedreich’s ataxia, omaveloxolone

The Medicines and Healthcare products Regulatory Agency (MHRA) has today, 23 April, approved omaveloxolone (Skyclarys), the first treatment for patients aged 16 and over, in the UK for a rare neurodegenerative movement disorder called Friedreich’s ataxia.

Positive Interim Phase 1/2 Data for LX2006 in Friedreich Ataxia Cardiomyopathy Supporting Advancement to Registrational Study

NEW YORK, April 07, 2025 (GLOBE NEWSWIRE) -- Lexeo Therapeutics, Inc. (Nasdaq: LXEO), a clinical stage genetic medicine company dedicated to pioneering novel treatments for cardiovascular diseases, today announced positive interim data across all dose cohorts of LX2006 for the treatment of Friedreich ataxia (FA) cardiomyopathy. In both the Lexeo-sponsored SUNRISE-FA Phase 1/2 clinical trial (NCT05445323) and the Weill Cornell Medicine investigator-initiated Phase 1A trial (NCT05302271), treatment with LX2006 was associated with clinically significant improvements in cardiac biomarkers and functional measures, and increased frataxin protein expression was observed in all participants with cardiac biopsies.

Case Report: Complex Cardiac Arrhythmia Management in the ICU for an Adolescent with Friedreich Ataxia

Oluwatomini A Fashina, Stephen J Gleich, Derek N Opp, Yves Ouellette, Yu Kawai; Front. Pediatr. Sec. Pediatric Critical Care Volume 13 - 2025 | doi: 10.3389/fped.2025.1542513 

Despite optimization with dofetilide and metoprolol, he was readmitted with recurrent atrial arrhythmias and cardiogenic shock, secondary to probable amiodarone-induced thyrotoxicosis, requiring extracorporeal membrane oxygenation. His clinical course involved multisystem complications, prolonged hospitalization, and disease progression, with no recovery in systolic function despite control of his arrhythmia burden.Intensivists should be cognizant of multi-system complications that can arise when treating refractory cardiac arrhythmias, especially in those with concomitant genetic conditions.

Dietary and Lifestyle Interventions for the Management of Hereditary Ataxias

Wenyao Yang, Bruce Thompson, Faith Kwa; Front. Nutr. Sec. Nutrition and Metabolism Volume 12 - 2025, doi: 10.3389/fnut.2025.1548821

Currently, available options for HA primarily focus on symptomatic management, highlighting a critical need for complementary therapeutic strategies, such as dietary and lifestyle interventions. This review explains recent findings on dietary and nutraceutical interventions, as well as lifestyle modifications such as exercise and rehabilitation programs for HA. It outlines common types of HA, including Friedreich ataxia, spinocerebellar ataxias, ataxia with vitamin E deficiency, ataxia-telangiectasia, and studies on a mixed cohort of patients with HA.

Friedreich’s ataxia treatment’s sexual dimorphism

Ferreira, J. Friedreich’s ataxia treatment’s sexual dimorphism. Lab Anim 54, 75 (2025). doi:10.1038/s41684-025-01535-2 

While NRF2 activation was confirmed in males, no motor or sensory improvements were observed compared to wildtype animals. Female TG+ mice showed no response to the drugs, revealing sexual dimorphism in NRF2 signaling. These results identify early sexual dimorphism in response to treatment and highlight the limitations of NRF2 therapies in the TG+ model and the need for refined approaches in FA treatment development.

Larimar Therapeutics Provides Nomlabofusp Development Update and Reports Fourth Quarter and Full Year 2024 Financial Results

BALA CYNWYD, Pa., March 24, 2025 (GLOBE NEWSWIRE) -- Larimar Therapeutics, Inc. (Larimar) Potential for Accelerated Approval Pathway Based on FXN Concentrations as a Reasonably Likely Surrogate Endpoint (RSLE): FDA stated in written correspondence associated with a meeting through the START pilot program that they are open to considering the use of FXN concentration as a RLSE and the acceptability of FXN’s use as an RLSE would ultimately be a matter of review of the data in a future marketing application.

Increases in Skin FXN as Evidence of Effectiveness: FDA recommended focusing on assessments of skin FXN concentrations rather than buccal FXN concentrations due to more consistent sampling and less variability. FDA acknowledged that recently submitted data appear to support a relationship between increased FXN concentrations in skin cells and relevant tissues such as the heart, dorsal root ganglion and skeletal muscle. FDA also acknowledged that the nonclinical studies were performed at relevant human doses.

FDA also suggested that Larimar consider exploring the relationship between increases in FXN in skin and changes in pharmacodynamic markers such as lipid profiles and/or clinical measures to provide additional support for the use of FXN as a RLSE.

BLA Submission and Initiation of Global Phase 3 Study on Track: Larimar has obtained feedback from both FDA and EMA on the global Phase 3 study protocol and is on track to initiate the study by mid-2025 with potential sites in the U.S., Europe, U.K., Canada, and Australia. Larimar is targeting the BLA submission to seek accelerated approval by the end of 2025.