Spinocerebellar Ataxia Type 3
Conditions
Keywords
SCA, Spinocerebellar Ataxia, Sodium Phenylbutyrate, Machado-Joseph Disease, Treatment
Brief summary
DESIGN: Pilot, Phase II, double-blind, placebo-controlled study JUSTIFICATION: In the literature one does not find a pharmacological treatment that changes the natural history of Spinocerebellar ataxtia type 3 (SCA3). Patients with this disease invariably become dependent. OBJECTIVES I. To determine safety and tolerability of phenylbutyrate in patients with SCA3. II. To provide early subsidies on the efficacy of phenylbutyrate in SCA3. DURATION: 12 months of a double-blind study. PLACE OF REALIZATION: Hospital de Clínicas de Porto Alegre, Brazil. NUMBER OF PATIENTS: 20 patients. CONCOMITANT MEDICATIONS: There are no concomitant medications that are prohibited unless they affect safety parameters of this study (hemogram and platelets; fasting serum glucose, AST, ALT, Gamma-GT, Bilirubins, Prothrombin time, Creatinine, Urea, Na, K, chlorides and arterial gasometry; electrocardiogram and echocardiogram). MEDICATIONS UNDER INVESTIGATION: Powdered sodium phenylbutyrate in sachets containing each 3g. At the start of the study, the dose will be 15g/day (five sachets) and may be reduced in case of mild adverse events. OUTCOMES Primary safety outcome: The number of adverse events, interruptions and dose reductions in the two groups (cases and controls). Efficacy outcomes: Efficacy outcomes are the following scores in both groups: NESSCA, SARA, Barthel, BDI, and WHOQol.
Interventions
DRUGPlacebo
Powdered placebo in sachets containing each 3g. At the start of the study, the dose will be 15g/day (five sachets).
DRUGSodium Phenylbutyrate
Powdered sodium phenylbutyrate in sachets containing each 3g. At the start of the study, the dose will be 15g/day (five sachets) and may be reduced in case of mild adverse events.
Sponsors
Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul, Brazil
Hospital de Clinicas de Porto Alegre
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
QUADRUPLE (Subject, Caregiver, Investigator, Outcomes Assessor)
Eligibility
Sex/Gender
ALL
Age
16 Years to 80 Years
Healthy volunteers
No
Inclusion criteria
1. All patients shall have their molecular diagnosis confirmed and expanded polyglutamine tract (CAG) measures already determined. 2. Patients still able to walk with until 8 years of disease duration, and 3. Patients aged 16 years or over will be invited to participate in the study.
Exclusion criteria
1. they show electrocardiogram ou echocardiographic alterations suggestive of heart insufficiency at baseline; 2. their serum creatinine levels are higher than 1.2 mg/dL, with the confirmation of renal insufficiency due to the rate of glomerular filtration; 3. they show a history of hypersensibility to sodium phenylbutyrate, and if 4. they (men and women) do not agree to use a reliable contraceptive method during the entire study period and for three months after its end.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Safety and tolerability of phenylbutyrate in patients with SCA3 | 6 months - 12 months | The number of adverse events, interruptions and dose reductions in the two groups (cases and controls). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Efficacy of phenylbutyrate in SCA3 on neurological dysfunction and quality of life | 6 months - 12 months | Efficacy outcomes are the following scores in both groups: NESSCA, SARA, 9-hole peg board test, BDI, and WHOQol. |
Countries
Brazil
Outcome results
None listed