Actively Recruiting
A Randomized, Parallel-arm, Double Blind, Placebo-controlled Study to Assess the Efficacy of Fampridine for Patients With Spinocerebellar Ataxia SCA27B Caused by a GAA Expansion in the FGF14 Gene
Led by Assistance Publique - Hôpitaux de Paris · Updated on 2025-12-10
70
Participants Needed
9
Research Sites
82 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Spinocerebellar ataxias 27B (SCA27B) is caused by an expansion of ≥ 250 GAA triplets in the FGF14 gene and accounts for 15% of cerebellar ataxias (around 500 patients in France). It is a late-onset form often presenting paroxysmal episodes of ataxia and/or diplopia. The disease progresses slowly, with an average increase of 0.10 points/year on the Friedreich's Ataxia Rating Scale (FARS) - Functional Staging and by 0.23 points/year on the Scale for the Assessment and Rating of Ataxia (SARA). To date, no treatment has been proven to be effective in these patients. Three open-label studies using 4-aminopyridine, have shown improvements in visual symptoms and gait in a total of 36 out of 44 patients, although these improvements were evaluated through diverse methodologies. In a subgroup of patients (n=7), administration of 4-aminopyridine resulted in a reduction in FARS - Functional Staging, ranging from 0.5 to 2 points. Notably, this beneficial effect rapidly disappearing in all patients stopping the drug. 4-aminopyridine, a potassium channel blocker, may involve restoration of cerebellar Purkinje cell rhythmic firing property, impaired with the loss of FGF14 function. Although these results appear very promising, the positive effect of 4-aminopyridine is reported only in restricted sample sizes and open-label experiences. Therefore, a robust clinical trial is necessary to provide the level of evidence required for a definitive conclusion on the benefit-risk of fampridine and before introducing the treatment into the regular patient clinical management. Hence, to confirm the beneficial effect of 4-aminopyridine treatment, this study will compare fampridine 10 mg bid (sustained-release form) to placebo during a 3-month treatment in a randomized, double-blind, multicenter, placebo-controlled study, on functional handicap in SCA27B cerebellar ataxia patients.
CONDITIONS
Official Title
A Randomized, Parallel-arm, Double Blind, Placebo-controlled Study to Assess the Efficacy of Fampridine for Patients With Spinocerebellar Ataxia SCA27B Caused by a GAA Expansion in the FGF14 Gene
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Genetic diagnosis of spinocerebellar ataxia SCA27B caused by an expansion 250 GAA repeats in the FGF14 gene
- At least 18 years of age
- Total score greater than 3 on the Scale for the Assessment and Rating of Ataxia (SARA) with a gait score of at least 1
- Physically able and expected to complete the trial as designed and able to take oral medication
- Signed informed consent
- Covered by social security
You will not qualify if you...
- Hypersensitivity to fampridine or any excipients in fampridine
- Serious illnesses increasing fampridine side effects, including creatinine clearance < 50 ml/min, liver failure, significant heart conduction disorders, or epilepsy
- Unstable or significant neurologic, psychiatric, cardiovascular, pulmonary, hepatic, renal, metabolic, gastrointestinal, urologic, immunologic, hematopoietic, or endocrine disease that may affect participation or study results
- Known recurrent, active, or chronic infections
- History of seizures
- Current treatment with fampridine or related drugs
- Use of medications that inhibit or are substrates of Organic Cation Transporter 2 (OCT2), like cimetidine
- Participation in another clinical trial with investigational drugs within 12 weeks or 5 times the half-life of that drug before baseline
- Previous treatment with fampridine
- Risk of suicidal behavior based on recent ideation or attempts
- Pregnancy or breastfeeding; women of childbearing potential must use effective contraception during treatment and for 7 days after
- Inability to understand study information
- Legally incapacitated adults or those under guardianship
- Persons deprived of liberty by judicial decision
- Other ataxic syndromes besides SCA27B
AI-Screening
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Trial Site Locations
Total: 9 locations
1
Neurology Department, CHU d'Angers
Angers, France
Not Yet Recruiting
2
Genetics Department, CHU de Bordeaux
Bordeaux, France
Actively Recruiting
3
Neurology and Gentics Department, CHU de Dijon
Dijon, France
Actively Recruiting
4
Neurology Department, Hôpital Pierre Wertheimer Hospital
Lyon, France
Not Yet Recruiting
5
Neurology Department, Gui De Chauliac Hospital
Montpellier, France
Actively Recruiting
6
Genetics Department, Pitié-Salpêtrière University Hospital
Paris, France
Actively Recruiting
7
Genetics Department, CHU de Rouen
Rouen, France
Not Yet Recruiting
8
Neurology Department, CHRU de Strasbourg
Strasbourg, France
Not Yet Recruiting
9
Neurology Department, CHU de Toulouse
Toulouse, France
Not Yet Recruiting
Research Team
G
Giulia COARELLI
CONTACT
A
Alexandra DURR
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
QUADRUPLE
Allocation
RANDOMIZED
Model
PARALLEL
Primary Purpose
TREATMENT
Number of Arms
2
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