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Biogen. 24th April 2025​, Following your request for information, I want to inform you that Biogen has withdrawn omaveloxolone from the National Institute for Health and Care Excellence (NICE) appraisal process.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.