SCA7Phase 2/3NCT03660917
Riluzole in Patients With Spinocerebellar Ataxia Type 7
A Phase 2/3 study testing Riluzole in people with SCA7, run by S. Andrea Hospital at 1 site in Italy.
Trial summary
Spinocerebellar ataxia type 7 (SCA7) belongs to the dominant forms of inherited cerebellar ataxias (CA), being one of the rarest form. SCA7 has no therapeutic options, so that the relentless course, the important visual deficit that accompanies CA, and the possibility of disease development in childhood are pressing… Read more about this study
- Who is it for?
- Ages 7 years and older
- Conditions the study is for
- SCA7
- What is being tested?
- Riluzole
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 34 participants
- Where
- 1 siteItaly
- Study dates
- 1 Jun 2021to 1 Sep 2026
- Phase
- Phase 2/3
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 7 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- positive genetic test for SCA7.
Who cannot join
- cardiac arrhythmias;
- haematologic diseases;
- hepatic diseases with serum values of alanine aminotransferase, aspartate aminotransferase or bilirubin > 1·5 times above normal limit;
- pregnancy (women of childbearing potential agreed to use contraception);
- breastfeeding.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
Neurological Unit, S. Andrea Hospital, Faculty of Medicine and Psychology, "Sapienza" University of Rome
Rome, 00139
Giovanni Ristori, MD,PhD, +390633776044, giovanni.ristori@uniroma1.it
Silvia Romano, MD, PhD, +390633776044, silvia.romano@uniroma1.it
About this study
Official title: Riluzole in Patients With Spinocerebellar Ataxia Type 7: a Randomized , Double-blind, Placebo-controlled Pilot Trial With a Lead in Phase
Spinocerebellar ataxia type 7 (SCA7) belongs to the dominant forms of inherited cerebellar ataxias (CA), being one of the rarest form. SCA7 has no therapeutic options, so that the relentless course, the important visual deficit that accompanies CA, and the possibility of disease development in childhood are pressing unmet needs. The investigators published encouraging data on riluzole in inherited CA other than SCA7. These results prompted off-label use of riluzole in single cases of SCA7 in Italy and United States, suggesting possible efficacy of the drug in this condition.
Read the detailed description
The investigators propose a clinical trial in SCA7 patients performing a serial evaluation of riluzole effects on stringent outcome measures: ophthalmological metrics, scale for the assessment and rating of ataxia (SARA) scores, and safety biomarkers.
The study design will be a randomized , double-blind, placebo-controlled pilot trial with a lead-in phase. The design will include a run-in phase of 6 months for all the participants, assessing ophthalmological metrics and SARA scores at the month 0, 3, and 6. Then one arm will undergo riluzole for other 12 months, while the other will take placebo for 6 months, and riluzole for the following 6 months; from both groups the same evaluations will be obtained at the month 12, 15 and 18 of the study.
Thirty-four patients will be enrolled at 4 clinical Centers (3 in Italy and one in U.S.). The clinical epidemiology aspects (design of the study, statistical analysis and enrollment process) will be followed by National Rare Diseases Centre and Complex Diseases Group of National Centre of Epidemiology, Surveillance and Health Promotion of National Institute of Health.
Eligible subjects for this study are patients (at least 7-year old) with positive genetic test for SCA7. Serious systemic illnesses or conditions (cardiac, haematologic and hepatic diseases) known for enhancing the side effects of riluzole, pregnancy or breastfeeding will be exclusion criteria.
Participants will be randomly assigned (1:1) to riluzole (50 mg twice daily) or placebo. In pre-pubertal subjects the dosage will be adjusted on a mg/m2 basis according to the recommended human daily dose (100 mg).
At baseline and after 3, 6, 12, 15 and 18 months, symptoms, physical and neurological signs, and SARA score will be recorded. At the same time points the following quantitative ophthalmologic assessments will be performed:
- corrected visual acuity (right eye and left eye measurements) expressed as logMAR units with the ETDRS chart (either back-illuminated or projected).
- Color vision via a Farnsworth D15 Arrangement Test.
- Visual evoked potential are elicited using transient Pattern Reversal stimuli and monocular stimulation.
- Electroretinography
- Optical Coherence tomography with macular map of both eyes.
- Computerized visual field examination by standard automated perimetry and kinetic perimetry Every three months electrocardiogram and a laboratory profile will be obtained for drug safety.
The co-primary endpoints will be the proportion of patients with stability of SARA score and visual acuity (in log MAR units) at 18 months, compared to the mean values of t0-t3-t6 evaluations.
A sample size of 17 patients per group (a total of 34 patients) had 80% power and an α value of 10% to detect a difference between the two groups of 35% in the co-primary end points. This calculation took into account published data on riluzole in CA.
Data will be expressed as mean (SD) for continuous variables and as proportions for categorical variables. Comparisons between riluzole and placebo group will be assessed using the t test for unpaired data for continuous variables and odds ratio with a relative 95% CI for categorical data. An intention-to-treat analysis will be done adopting a last observation carried forward method. A logistic regression model will be done at 18 months to adjust the results for the main baseline characteristics; p values less than 0.05 will be considered significant.
- Conditions
- SCA7
- Being tested
- Riluzole, Placebo
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
RiluzoleDrug
Study drug will be orally dispensed in doses of 50 mg twice daily for 12 months in the treated group.
PlaceboDrug
Placebo drug for 6 months, however they will receive riluzole during the last 6 months of study, so that all patients will undergo the active drug in the last phase of the study.
| Study group | Role | What they receive |
|---|---|---|
| Riluzole | Experimental | Riluzole 50 mg twice daily for 12 months in the treated group. In pre-pubertal subjects the dosage will be adjusted on a mg/m2 basis according to the recommended human daily dose (RHDD; 100 mg). Receives: Drug: Riluzole |
| Placebo + riluzole | Placebo comparator | Placebo twice daily for 6 months and riluzole 50 mg twice daily for the following 6 months in the comparison group Receives: Drug: Riluzole; Drug: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
visual acuity expressed as log MAR units
the metric to quantify the best corrected visual acuity, by applying the ETDRS chart (either back-illuminated or projected) with the patient's correction for distance
Measured: 18 months
the proportion of patients with stable Scale for the assessment and rating of ataxia (SARA) score
neurological assessment for ataxia. It has eight categories with accumulative score ranging from 0 (no ataxia) to 40 (most severe ataxia). When completing the outcome measure each category is assessed and scored accordingly. Scores for the eight items range as follows:
Gait (0-8 points), Stance (0-6 points), Sitting (0-4 points) Speech disturbance (0-6 points) Finger chase (0-4 points) Nose-finger test (0-4 points) Fast alternating hand movement (0-4 points) Heel-shin slide (0-4 points) Once each of the 8 categories have been assessed, the total is calculated to determine the severity of ataxia.
For motor activities of the four extremities (items 5-8), assessments are performed bilaterally, and the mean values are used to obtain the total score.
Measured: 18 months
Secondary outcomes (5)
Farnsworth D15 Arrangement Test
quantitative ophthalmologic assessments
Measured: 18 months
Visual evoked potentials
quantitative ophthalmologic assessments
Measured: 18 months
Electroretinography
quantitative ophthalmologic assessments
Measured: 18 months
Optical Coherence tomography
quantitative ophthalmologic assessments
Measured: 18 months
Scale for the assessment and rating of ataxia (SARA) score
neurological assessment for ataxia. It has eight categories with accumulative score ranging from 0 (no ataxia) to 40 (most severe ataxia). When completing the outcome measure each category is assessed and scored accordingly. Scores for the eight items range as follows:
Gait (0-8 points), Stance (0-6 points), Sitting (0-4 points) Speech disturbance (0-6 points) Finger chase (0-4 points) Nose-finger test (0-4 points) Fast alternating hand movement (0-4 points) Heel-shin slide (0-4 points) Once each of the 8 categories have been assessed, the total is calculated to determine the severity of ataxia.
For motor activities of the four extremities (items 5-8), assessments are performed bilaterally, and the mean values are used to obtain the total score.
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Sep 2018
- Study start1 Jun 2021
- Primary completion1 Sep 2025 (estimated)
- Study completion1 Sep 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for SCA7Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2/3
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Model description
- We opted for a randomized, double-blind, placebo-controlled pilot trial with a lead-in phase. Moreover, the patients to be included in the placebo arm will receive riluzole during the last 6 months of study, so that all patients will undergo the active drug in the last phase of the study.
- Masking
- Double blind
- Who is masked
- Participant, Outcomes assessor
- Enrolment
- 34 participants (estimated)
Sponsor and investigators
- Lead sponsor
- S. Andrea Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Giovanni Ristori, S. Andrea Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03660917
- Sponsor's protocol ID
- AIFA-2016-02365063
- Status last verified
- Nov 2024
- First submitted
- 15 May 2018
- Last updated
- 2 Dec 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Riluzole in Patients With Spinocerebellar Ataxia Type 7: a Randomized , Double-blind, Placebo-controlled Pilot Trial With a Lead in Phase
- ClinicalTrials.gov ID
- NCT03660917
- Acronym / sponsor ID
- AIFA-2016-02365063
- Conditions
- SCA7
- Phase
- Phase 2/3
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 34 participants (estimated)
- Lead sponsor
- S. Andrea HospitalUniversity, hospital or other
- Study start
- 1 Jun 2021 (actual)
- Primary completion
- 1 Sep 2025 (estimated)
- Study completion
- 1 Sep 2026 (estimated)
- First posted
- 7 Sep 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Spinocerebellar ataxia type 7 (SCA7) belongs to the dominant forms of inherited cerebellar ataxias (CA), being one of the rarest form. SCA7 has no therapeutic options, so that the relentless course, the important visual deficit that accompanies CA, and the possibility of disease development in childhood are pressing unmet needs. The investigators published encouraging data on riluzole in inherited CA other than SCA7. These results prompted off-label use of riluzole in single cases of SCA7 in Italy and United States, suggesting possible efficacy of the drug in this condition.
Detailed description
The investigators propose a clinical trial in SCA7 patients performing a serial evaluation of riluzole effects on stringent outcome measures: ophthalmological metrics, scale for the assessment and rating of ataxia (SARA) scores, and safety biomarkers.
The study design will be a randomized , double-blind, placebo-controlled pilot trial with a lead-in phase. The design will include a run-in phase of 6 months for all the participants, assessing ophthalmological metrics and SARA scores at the month 0, 3, and 6. Then one arm will undergo riluzole for other 12 months, while the other will take placebo for 6 months, and riluzole for the following 6 months; from both groups the same evaluations will be obtained at the month 12, 15 and 18 of the study.
Thirty-four patients will be enrolled at 4 clinical Centers (3 in Italy and one in U.S.). The clinical epidemiology aspects (design of the study, statistical analysis and enrollment process) will be followed by National Rare Diseases Centre and Complex Diseases Group of National Centre of Epidemiology, Surveillance and Health Promotion of National Institute of Health.
Eligible subjects for this study are patients (at least 7-year old) with positive genetic test for SCA7. Serious systemic illnesses or conditions (cardiac, haematologic and hepatic diseases) known for enhancing the side effects of riluzole, pregnancy or breastfeeding will be exclusion criteria.
Participants will be randomly assigned (1:1) to riluzole (50 mg twice daily) or placebo. In pre-pubertal subjects the dosage will be adjusted on a mg/m2 basis according to the recommended human daily dose (100 mg).
At baseline and after 3, 6, 12, 15 and 18 months, symptoms, physical and neurological signs, and SARA score will be recorded. At the same time points the following quantitative ophthalmologic assessments will be performed:
- corrected visual acuity (right eye and left eye measurements) expressed as logMAR units with the ETDRS chart (either back-illuminated or projected).
- Color vision via a Farnsworth D15 Arrangement Test.
- Visual evoked potential are elicited using transient Pattern Reversal stimuli and monocular stimulation.
- Electroretinography
- Optical Coherence tomography with macular map of both eyes.
- Computerized visual field examination by standard automated perimetry and kinetic perimetry Every three months electrocardiogram and a laboratory profile will be obtained for drug safety.
The co-primary endpoints will be the proportion of patients with stability of SARA score and visual acuity (in log MAR units) at 18 months, compared to the mean values of t0-t3-t6 evaluations.
A sample size of 17 patients per group (a total of 34 patients) had 80% power and an α value of 10% to detect a difference between the two groups of 35% in the co-primary end points. This calculation took into account published data on riluzole in CA.
Data will be expressed as mean (SD) for continuous variables and as proportions for categorical variables. Comparisons between riluzole and placebo group will be assessed using the t test for unpaired data for continuous variables and odds ratio with a relative 95% CI for categorical data. An intention-to-treat analysis will be done adopting a last observation carried forward method. A logistic regression model will be done at 18 months to adjust the results for the main baseline characteristics; p values less than 0.05 will be considered significant.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Double blind (participant, outcomes assessor)
- Number of arms
- 2
- Model description
- We opted for a randomized, double-blind, placebo-controlled pilot trial with a lead-in phase. Moreover, the patients to be included in the placebo arm will receive riluzole during the last 6 months of study, so that all patients will undergo the active drug in the last phase of the study.
| Arm | Type | Receives |
|---|---|---|
| Riluzole | Experimental | Drug: RiluzoleRiluzole 50 mg twice daily for 12 months in the treated group. In pre-pubertal subjects the dosage will be adjusted on a mg/m2 basis according to the recommended human daily dose (RHDD; 100 mg). |
| Placebo + riluzole | Placebo comparator | Drug: Riluzole, Drug: PlaceboPlacebo twice daily for 6 months and riluzole 50 mg twice daily for the following 6 months in the comparison group |
Who may qualify
- Ages
- 7 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- positive genetic test for SCA7.
Key exclusion criteria (5 listed)
- cardiac arrhythmias;
- haematologic diseases;
- hepatic diseases with serum values of alanine aminotransferase, aspartate aminotransferase or bilirubin > 1·5 times above normal limit;
- pregnancy (women of childbearing potential agreed to use contraception);
- breastfeeding.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| RiluzoleStudy drug will be orally dispensed in doses of 50 mg twice daily for 12 months in the treated group. | Drug | Placebo + riluzole, Riluzole |
| PlaceboPlacebo drug for 6 months, however they will receive riluzole during the last 6 months of study, so that all patients will undergo the active drug in the last phase of the study. | Drug | Placebo + riluzole |
Primary outcome
visual acuity expressed as log MAR units
Time frame: 18 months
the metric to quantify the best corrected visual acuity, by applying the ETDRS chart (either back-illuminated or projected) with the patient's correction for distance
the proportion of patients with stable Scale for the assessment and rating of ataxia (SARA) score
Time frame: 18 months
neurological assessment for ataxia. It has eight categories with accumulative score ranging from 0 (no ataxia) to 40 (most severe ataxia). When completing the outcome measure each category is assessed and scored accordingly. Scores for the eight items range as follows: Gait (0-8 points), Stance (0-6 points), Sitting (0-4 points) Speech disturbance (0-6 points) Finger chase (0-4 points) Nose-finger test (0-4 points) Fast alternating hand movement (0-4 points) Heel-shin slide (0-4 points) Once each of the 8 categories have been assessed, the total is calculated to determine the severity of ataxia. For motor activities of the four extremities (items 5-8), assessments are performed bilaterally, and the mean values are used to obtain the total score.
5 secondary outcomes
Farnsworth D15 Arrangement Test
Time frame: 18 months
Visual evoked potentials
Time frame: 18 months
Electroretinography
Time frame: 18 months
Optical Coherence tomography
Time frame: 18 months
Scale for the assessment and rating of ataxia (SARA) score
Time frame: 18 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Dec 2024.
Related trials for SCA7
Active, not recruitingObservational study
Natural History of Spinocerebellar Ataxia Type 7 (SCA7)
Spinocerebellar Ataxia
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingObservational study
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2
Active, not recruitingPhase 3
Troriluzole in Adult Participants With Spinocerebellar Ataxia
Spinocerebellar Ataxias, Spinocerebellar Ataxia Type 1
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2/3 study testing Riluzole in people with SCA7, run by S. Andrea Hospital at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 2 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Silvia Romano, MD, PhD (+390633776044, silvia.romano@uniroma1.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
visual acuity expressed as log MAR units (time frame: 18 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Dec 2024.