Riluzole in Patients With Spinocerebellar Ataxia Type 7

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Sponsor: S. Andrea Hospital

Sommario: 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.


TIPOLOGIA STUDIO

Interventistico

FASE


TRATTAMENTO

  • Riluzole
  • Placebo

OBIETTIVO PRIMARIO

  • Misura: visual acuity expressed as log MAR units
  • Tempo: 18 months
  • Descrizione: 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
  • Misura: the proportion of patients with stable Scale for the assessment and rating of ataxia (SARA) score
  • Tempo: 18 months
  • Descrizione: 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.

OBIETTIVO SECONDARIO

  • Misura: Farnsworth D15 Arrangement Test
  • Tempo: 18 months
  • Descrizione: quantitative ophthalmologic assessments
  • Misura: Visual evoked potentials
  • Tempo: 18 months
  • Descrizione: quantitative ophthalmologic assessments
  • Misura: Electroretinography
  • Tempo: 18 months
  • Descrizione: quantitative ophthalmologic assessments
  • Misura: Optical Coherence tomography
  • Tempo: 18 months
  • Descrizione: quantitative ophthalmologic assessments
  • Misura: Scale for the assessment and rating of ataxia (SARA) score
  • Tempo: 18 months
  • Descrizione: 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.

CRITERI DI ELIGIBILITA'

  • Criteri di inclusione e esclusione

    Inclusion Criteria: - positive genetic test for SCA7. Exclusion Criteria: - 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.


SESSO

Tutti


ETA' MINIMA

Età Minima: 7 Years
Età Massima: N/A


LUOGO

Center for Experimental Neurological Therapies (CENTERS), S. Andrea Hospital, Faculty of Medicine and Psychology, "Sapienza" University of Rome
Rome, 00139