Fampridine for Spinocerebellar ataxia (SCA27B)

Inclusion criteria

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

Exclusion criteria

• {"criterion_text":"- Hypersensitivity to fampridine\n- Previous treatment with fampridine\n- Pregnancy and breastfeeding (women in childbearing potential will have a urine pregnancy test at each visit)\n- 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)\n- Hypersensitivity to any excipients present in fampridine\n- \tUnstable, 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.\n- \tPatients with known recurrent, active, or chronic infections.\n- \tPatients 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.\n- \tLegally incapacitated adults (e.g., individuals under legal protection such as guardianship or curatorship)\n- Inability to understand information about the protocol\n- Persons deprived of their liberty by judicial decision\n- Other ataxic syndromes than SCA27B\n- 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)\n- Patients with prior history of seizure.\n- Concurrent treatment with other medicinal products containing fampridine (4-aminopyridine)\n- Concomitant use of Fampyra with medicinal products that are inhibitors or substrates of Organic Cation Transporter 2 (OCT2) for example, cimetidine.\n- \tParticipation 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"}

Primary endpoints

• {"endpoint_text":"- 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.","definition_or_measurement_approach":"Proportion of patients with ≥0.5 point improvement on the FARS-Functional Staging scale at Week 12 compared to baseline."}

Secondary endpoints

• {"endpoint_text":"- Improvement of at least 0.5 point on the FARS-Functional Staging at week 2","definition_or_measurement_approach":"Proportion of patients with ≥0.5 point improvement on the FARS-Functional Staging scale at Week 2 vs baseline."}
• {"endpoint_text":"- Variation in cerebellar syndrome assessed by the SARA at week 2 and week 12","definition_or_measurement_approach":"Change in SARA score at Weeks 2 and 12 vs baseline."}
• {"endpoint_text":"- Variation in cerebellar syndrome assessed by the mFARS scale at week 2 and week 12","definition_or_measurement_approach":"Change in mFARS score at Weeks 2 and 12 vs baseline."}
• {"endpoint_text":"- Variation in cerebellar syndrome assessed by the CCFS score at week 2 and week 12","definition_or_measurement_approach":"Change in CCFS score at Weeks 2 and 12 vs baseline."}
• {"endpoint_text":"- Variation in extracerebellar signs assessed by the INAS at week 12","definition_or_measurement_approach":"Change in INAS score at Week 12 vs baseline."}
• {"endpoint_text":"- Variation in walking ability assessed by the T25FW at week 2 and week 12","definition_or_measurement_approach":"Change in Timed 25-Foot Walk (T25FW) performance at Weeks 2 and 12 vs baseline."}
• {"endpoint_text":"- Variation in oculomotor signs assessed by the SODA at week 2 and week 12","definition_or_measurement_approach":"Change in SODA score at Weeks 2 and 12 vs baseline."}
• {"endpoint_text":"- Variation in oculomotor signs assessed by OMR at week 2 and week 12","definition_or_measurement_approach":"Change in OMR assessment at Weeks 2 and 12 vs baseline."}
• {"endpoint_text":"- Variation in daily frequency of diplopia assessed by the Numerical Diplopia Rating Scale (NDRS) at week 2 and week 12","definition_or_measurement_approach":"Change in daily diplopia frequency measured by NDRS at Weeks 2 and 12 vs baseline."}
• {"endpoint_text":"- Variation in daily living activities evaluated by the FARS–Activities of Daily Living at week 12","definition_or_measurement_approach":"Change in FARS–Activities of Daily Living score at Week 12 vs baseline."}
• {"endpoint_text":"- Quality of life evaluated by the PROM-ATAXIA and 36-Item Short Form Health Survey (SF-36) at week 12","definition_or_measurement_approach":"PROM-ATAXIA and SF-36 instruments administered at Week 12 to assess quality of life."}
• {"endpoint_text":"- Patient's impression evaluated by the Patient Global Impression of change (PGI-C) at week 2 and week 12","definition_or_measurement_approach":"Patient Global Impression of Change (PGI-C) at Weeks 2 and 12."}
• {"endpoint_text":"- Clinician’s impression evaluated by the Clinician Global Impression of Change (CGI-C) at week 2 and week 12","definition_or_measurement_approach":"Clinician Global Impression of Change (CGI-C) at Weeks 2 and 12."}
• {"endpoint_text":"- oleTolerance assessed by clinical exam, blood analysis, and ECG at week 2 and week 12, as well as adverse events recordings","definition_or_measurement_approach":"Safety/tolerability assessments via clinical exam, blood tests, ECG at Weeks 2 and 12 and adverse event recording."}
• {"endpoint_text":"- Clinical, neurological, and quality of life assessments at week 16, i.e. 4 weeks after treatment interruption","definition_or_measurement_approach":"Clinical, neurological and QoL assessments at Week 16 (4 weeks after treatment interruption) to assess persistence of effects."}

France

Earliest CTIS Part Ii Submission Date

16-06-2025

Latest Decision Or Authorization Date

13-03-2026

Processing Time Days

270

Number Of Sites

11

Number Of Participants

70

Primary sponsor

Full Name

Assistance Publique Hopitaux De Paris

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

France

Third parties

• {"country":"","full_name":"French Ministry of Health","duties_or_roles":"Source of monetary support","organisation_type":""}