dc.description.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
