Study of fampridine treatment for patients with spinocerebellar ataxia SCA27B caused by FGF14 gene mutation

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What is this study about?

This study focuses on patients with Spinocerebellar Ataxia, specifically type SCA27B, which is a rare genetic condition affecting movement and balance due to problems in a part of the brain called the cerebellum. The study will test a medication called Fampridine, given as prolonged-release tablets, to see if it can help improve symptoms in people with this condition.

The main purpose of this research is to determine if taking Fampridine tablets twice daily for 12 weeks helps patients with SCA27B. During the study, some patients will receive Fampridine while others will receive placebo. The medication or placebo will be taken by mouth, with a maximum daily dose of 20 mg of Fampridine for those in the treatment group.

The study will last 16 weeks in total, including a 12-week treatment period followed by 4 weeks of observation after stopping the medication. Throughout the study, doctors will monitor various aspects of the participants’ movement abilities, balance, daily activities, and overall well-being. They will also check for any potential side effects through regular medical examinations and blood tests.

1 Initial treatment start

You will receive either fampridine 10 mg or a placebo (inactive substance) twice a day

The medication should be taken orally (by mouth)

You will not know whether you are receiving the actual medication or placebo

2 First evaluation (Week 2)

Your walking ability will be assessed

Eye movement tests will be performed

Your overall condition will be evaluated by your doctor

Blood tests and heart examination (ECG) will be conducted

You will be asked about any side effects you may have experienced

3 Main evaluation (Week 12)

A comprehensive assessment of your condition will be performed

Your daily living activities will be evaluated

Quality of life questionnaires will be completed

Blood tests and heart examination (ECG) will be repeated

Your doctor will evaluate your overall progress

4 Final follow-up (Week 16)

This evaluation occurs 4 weeks after stopping the treatment

Your neurological condition will be assessed

Quality of life assessment will be performed

This marks the end of your participation in the study

Who Can Join the Study?

  • You must have a confirmed genetic diagnosis of cerebellar ataxia SCA27B with at least 250 GAA repeats in the FGF14 gene (a specific genetic marker that confirms the condition)
  • You must be at least 18 years old
  • You must have a SARA total score above 3 and at least a score of 1 for walking ability on the SARA scale (SARA is a scale that measures movement and coordination difficulties)
  • You must be able and willing to sign an informed consent form to participate in the study
  • You must have active social security coverage
  • You must be physically capable of:
    • Completing all study activities
    • Taking medication by mouth
    • Following the study schedule for the entire duration
  • Both men and women can participate in this study

Who Cannot Join the Study?

  • Age below 18 years or above 65 years
  • Pregnancy or breastfeeding women
  • History of seizures or epilepsy (conditions causing uncontrolled electrical activity in the brain)
  • Moderate to severe kidney disease (problems with kidney function)
  • Current treatment with medications that may interact with fampridine
  • Participation in another clinical trial within the past 30 days
  • Known allergic reactions to fampridine or similar medications
  • Significant heart problems or uncontrolled high blood pressure
  • Severe mental health conditions that could affect participation
  • Unable to follow study procedures or attend scheduled visits
  • History of drug or alcohol abuse within the past year
  • Any medical condition that the study doctor considers unsafe for participation

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

Site Name City Country Status
Centre Hospitalier Universitaire De Bordeaux Bordeaux France
Oncopole Claudius Regaud Toulouse France

Other Sites

Site Name City Country Status
Centre Hospitalier Universitaire Rouen Rouen France
Centre Hospitalier Universitaire De Montpellier Montpellier France
Centre Hospitalier Lyon Sud Pierre Benite France
Hopital Beaujon Clichy France
Cgbggp Htlstfayqrc Ulgbraokfpdqd Dj Dyqln Dijon France
Cnzg Du Nsfzb Vandoeuvre Les Nancy France
Cuezpg Hakburyswks Rdepcfvr Dgtfucsogxjefh Angers France
Hvjmrnut Uuqylvmcwpcbyf Sisivsoxgk &pevwwr Hjtyeju dz Hjcyzhmoyrd STRASBOURG, Alsace France

Want to learn more about this study or check if you can participate? Contact us.

Trial status

Country Status Recruitment Start
France France
Recruiting
23.06.2025

Trial locations

Investigated drugs:

Fampridine is a medication that helps improve walking and movement in people with certain neurological conditions. It works by helping nerve signals travel better through damaged nerve fibers. In this trial, it is being studied to see if it can help patients with a specific type of spinocerebellar ataxia called SCA27B, which affects balance and coordination. The medication is taken twice daily and aims to improve the symptoms of this rare genetic condition.

Spinocerebellar ataxia – A rare genetic disorder that affects the nervous system, particularly the cerebellum and spinal cord. It causes progressive problems with movement, balance, and coordination. People with this condition experience increasing difficulty with walking, speech, and fine motor tasks. The condition can also affect eye movements and cause involuntary movements. The symptoms typically develop gradually over time and can vary in severity among different individuals.

Trial ID:
2024-520413-53-00
Protocol code:
APHP240921
Trial Phase:
Therapeutic confirmatory (Phase III)

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