Spinocerebellar Ataxia 3
Conditions
Brief summary
There are no clinically established treatments which have been proven to delay the disease progression in spinocerebellar ataxia (SCA) 3. Most available treatments are only for symptom alleviation, and thus the majority of patients will eventually progress to needing and wheel chair and eventually bedridden. As trehalose appear to be potentially promising treatment in SCA, the investigators aim to conduct this study using oral trehalose in our genetically confirmed SCA 3 patients.
Detailed description
This prospective single arm interventional study involved 13 genetically confirmed spinocerebellar ataxia (SCA) 3 patients with no concomitant diabetes, over 6 months. Following baseline assessment, patients were instructed to ingest 100g of oral trehalose diluted in 500ml of water or other beverages daily. Assessments were performed at baseline, 2, 4 and 6 months using ataxia rating scales (SARA, SCAFI and INAS) and EQ-5D-3L scale for quality of life assessment.
Interventions
DIETARY_SUPPLEMENTtrehalose
patients were instructed to ingest 100g of oral trehalose diluted in 500ml of water or other beverages daily
Sponsors
National University of Malaysia
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
1. DNA diagnosis of SCA 3 in the study subject of his/ her affected family member(s) 2. Consent to participate in the study 3. The age of 18 years and older
Exclusion criteria
1. Unconfirmed SCA 3 2. Concomitant disorder(s) that affect SARA and other ataxia measures used in this study 3. Diabetes 4. Malabsorption of trehalose underlies intolerance to mushrooms, since the lack of absorption results in diarrhoea and intestinal distress. 5. Less than 18 years old
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| scale of rating of ataxia (SARA) score months, | 2 monthly intervals for 6 months | Assessment of SARA scores by a single assessor |
| SCA Functional Index Scores | 2 monthly intervals for 6 months | Assessment of SCAFI by a single assessor |
| EQ5D3L - quality of life scores | 2 monthly intervals for 6 months | Assessment of quality of life scores |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Side effects Profile | 2 monthly intervals for 6 months | Adverse Effects |
| Blood investigation | At baseline and at 6 months | Measurement of renal profile, fasting blood glucose, full blood count and liver profile |
Countries
Malaysia
Outcome results
None listed