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.(TREAT-FGF14)

Overview

Sponsor-declared trial summary

Key facts

Sponsor

Assistance Publique Hopitaux De Paris

Participant type

Patients

Age range

18-64 years, 65+ years

Gender

Male and Female

Therapeutic area

Diseases [C] - Nervous System Diseases [C10]

Trial duration

21 Oct 2025 → ongoing

Decision date (initial)

2025-08-01

Transition trial

No

Low-intervention

No

Rare-disease indication

Yes

Vulnerable population

No

Funding sources

French Ministry of Health

Trial design

CTIS Part I — objectives, methods, condition coding

Main objective

Scope: Efficacy

The main objective of this randomized, double-blind, placebo-controlled clinical trial is to demonstrate the efficacy of a 12-week treatment with fampridine 10 mg bid in SCA27B patients.

Secondary objectives 11

1. To evaluate the efficacy of fampridine sustained-release 10 mg bid on functional staging in SCA27B patients at week 2
2. To evaluate the efficacy of fampridine sustained-release 10 mg bid on the cerebellar syndrome progression at week 2 and week 12 in SCA27B patients
3. To evaluate the efficacy of fampridine sustained-release 10 mg bid on the extracerebellar signs progression at week 12 in SCA27B patients
4. To evaluate the efficacy of fampridine sustained-release 10 mg bid on the walking ability progression at week 2 and week 12 in SCA27B patients
5. To evaluate the efficacy of fampridine sustained-release 10 mg bid on oculomotor disorders and diplopia progression at week 2 and week 12 in SCA27B patients
6. To evaluate the efficacy of fampridine sustained-release 10 mg bid on daily living activities at 12-week in SCA27B patients
7. To assess the efficacy of fampridine sustained-release 10 mg bid on quality of life at week 12 in SCA27B patients
8. To evaluate the patient's impression about the efficacy of fampridine sustained-release 10 mg bid at week 2 and week 12 in SCA27B patients
9. To evaluate the clinician’s impression about the efficacy of fampridine sustained-release 10 mg bid at week 2 and week 12 in SCA27B patients
10. To assess 12-week clinical safety and biological tolerance of fampridine sustained-release 10 mg bid
11. – To assess the persistence of fampridine effects after a 4-week treatment interruption

Conditions and MedDRA coding

Spinocerebellar ataxia

Eligibility criteria

Principal inclusion / exclusion criteria as submitted by sponsor

Inclusion criteria 6

1. Genetic diagnosis of cerebellar ataxia SCA27B caused by an expansion ≥ 250 GAA repeats in the FGF14 gene
2. At least 18 years of age
3. SARA total score > 3 and score ≥ 1 on the “gait” item of the SARA scale.
4. Signature of informed consent
5. Covered by social security
6. Physically able and expected to complete the trial as designed and having the ability to take oral medication

Exclusion criteria 17

1. Hypersensitivity to fampridine
2. Inability to understand information about the protocol
3. Persons deprived of their liberty by judicial decision
4. Other ataxic syndromes than SCA27B
5. Serious systemic illnesses or conditions known for enhancing the side-effects of fampridine (i.e., creatinine clearance < 50 ml/min, hepatic insufficiency, medically significant heart conduction disorders such as occurrence of torsades de pointes or another severe ventricular arrhythmia, high-degree atrioventricular block (Mobitz II or complete), Brugada pattern, QTcF time of >480 msec in 3 consecutive ECG recordings taken at least 5 minutes apart, uncompensated cardiovascular disorder, epilepsy)
6. Patients with prior history of seizure.
7. Concurrent treatment with other medicinal products containing fampridine (4-aminopyridine)
8. Concomitant use of Fampyra with medicinal products that are inhibitors or substrates of Organic Cation Transporter 2 (OCT2) for example, cimetidine.
9.  Participation in another clinical trial with an investigational drug or receipt of an investigational product within 12 weeks or 5 times the half-life of the product (whichever is longer) prior to Baseline visit
10. Previous treatment with fampridine
11. Pregnancy and breastfeeding (women in childbearing potential will have a urine pregnancy test at each visit)
12. Sexual non abstinence or absence of effective contraception (for child-bearing aged women, contraception using highly effective methods (see section 6.2 of the protocol) for the duration of treatment and up to 7 days after the last dose of treatment)
13. Hypersensitivity to any excipients present in fampridine
14.  Unstable, clinically significant neurologic (other than the disease being studied; eg, recurrent strokes), psychiatric, cardiovascular (eg, pulmonary arterial hypertension, cardiac valvulopathy, orthostatic hypotension/tachycardia), pulmonary, hepatic, renal, metabolic, gastrointestinal, urologic, immunologic, hematopoietic, or endocrine disease or other abnormality which may impact the ability of the participant to participate or potentially confound the study results.
15.  Patients with known recurrent, active, or chronic infections.
16.  Patients considered at risk of suicidal behavior based on the Columbia-Suicide Severity Rating Scale (C-SSRS), defined as reporting suicidal ideation with intent to act (C-SSRS items 4 or 5) within the 6 months prior to randomization, or any suicidal behavior (including actual, aborted, or interrupted attempts) within the past 12 months.
17.  Legally incapacitated adults (e.g., individuals under legal protection such as guardianship or curatorship)

Endpoints

Primary and secondary outcome measures (English text)

Primary endpoints 1

1. The primary endpoint is the proportion of patients showing an improvement of at least 0.5 point on the FARS-Functional Staging at week 12 as compared to baseline.

Secondary endpoints 15

1. Improvement of at least 0.5 point on the FARS-Functional Staging at week 2
2. Variation in cerebellar syndrome assessed by the SARA at week 2 and week 12
3. Variation in cerebellar syndrome assessed by the mFARS scale at week 2 and week 12
4. Variation in cerebellar syndrome assessed by the CCFS score at week 2 and week 12
5. Variation in extracerebellar signs assessed by the INAS at week 12
6. Variation in walking ability assessed by the T25FW at week 2 and week 12
7. Variation in oculomotor signs assessed by the SODA at week 2 and week 12
8. Variation in oculomotor signs assessed by OMR at week 2 and week 12
9. Variation in daily frequency of diplopia assessed by the Numerical Diplopia Rating Scale (NDRS) at week 2 and week 12
10. Variation in daily living activities evaluated by the FARS–Activities of Daily Living at week 12
11. Quality of life evaluated by the PROM-ATAXIA and 36-Item Short Form Health Survey (SF-36) at week 12
12. Patient's impression evaluated by the Patient Global Impression of change (PGI-C) at week 2 and week 12
13. Clinician’s impression evaluated by the Clinician Global Impression of Change (CGI-C) at week 2 and week 12
14. oleTolerance assessed by clinical exam, blood analysis, and ECG at week 2 and week 12, as well as adverse events recordings
15. Clinical, neurological, and quality of life assessments at week 16, i.e. 4 weeks after treatment interruption

Investigational products

Investigational medicinal products (IMPs), comparators, placebo, auxiliary

Test 1

Placebo 1

Sponsors and contacts

Sponsor organisations, regulatory contacts, third parties

Assistance Publique Hopitaux De Paris

Sponsor organisation

Assistance Publique Hopitaux De Paris

Address

Porte 23, 1 Avenue Claude Vellefaux 1 Avenue Claude Vellefaux

City

Paris Cedex 10

Postcode

75475

Country

France

Scientific contact point

Organisation

Assistance Publique Hopitaux De Paris

Contact name

Coarelli Giulia

Public contact point

Organisation

Assistance Publique Hopitaux De Paris

Contact name

Coarelli Giulia

Locations

1 EU/EEA country · 11 investigational sites

By country

Investigational sites

Country notifications

Trial-start, recruitment-start, end and early-termination notifications submitted per Member State

Results and documents

Annex IV summary of results, Annex V layperson summary, and all documents registered in CTIS for this trial

Documents 16 files

Public protocol annexes, IB summaries, regulatory submissions and post-authorisation documents registered in CTIS.

Application history

2 submissions — initial application plus substantial / non-substantial modifications