Effects of adding fampridine to conventional rehabilitation therapy in the treatment of patients with spinocerebellar ataxia type 27B: a randomised placebo-controlled clinical trial

Abstract

BACKGROUND: Spinocerebellar ataxia type 27B is a neurodegenerative disease with autosomal dominant inheritance that represents one of the leading causes of idiopathic late-onset ataxia. There are currently no approved treatments for its primary cerebellar symptoms, such as instability, gait disturbances, incoordination or dysarthria, which significantly impair the functionality and quality of life of those affected. Recent publications suggest that fampridine, a drug approved for improving gait in multiple sclerosis, may reduce the severity and duration of these cerebellar symptoms, but available evidence is limited. To address this, this placebo-controlled trial aims to evaluate the efficacy and safety of fampridine in SCA27B patients, using both clinician and self-reported measures, to provide robust evidence for regulatory approval and optimised patient care. OBJECTIVES: The main objective of the study is to demonstrate the efficacy of fampridine in reducing the severity of ataxia symptoms, as measured by the Scale for the Assessment and Rating of Ataxia (SARA). Secondary objectives include assessing whether fampridine reduces symptom duration, decreases the risk of falls, and improves patients’ quality of life, as well as evaluating the safety profile of the drug in these patients. It will be analysed whether downbeat nystagmus and alcohol consumption may alter the response to the medication. DESIGN AND SETTING: This is a multicentre, randomized, double-blind, placebo-controlled, 6-months clinical trial. It will be conducted across several hospitals in Catalonia. PARTICIPANTS AND METHODS: The study population will consist of symptomatic patients (SARA scale ≥1) aged 18 years or older with a confirmed diagnosis of spinocerebellar ataxia type 27B. A total of 84 participants will be selected based on predefined inclusion and exclusion criteria. Of these, 42 will be randomized to receive fampridine, and 42 will receive a placebo. Both groups will undergo rehabilitation therapy, as this constitutes the standard clinical management for these patients