Clinical Effects of Oral Trehalose In Patients With Spinocerebellar Ataxia 3

Study Overview
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Brief Summary
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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
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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.

Official Title
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Clinical Effects of Oral Trehalose In Patients With Spinocerebellar Ataxia 3: A Pilot Study

Conditions
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Spinocerebellar Ataxia 3

Intervention / Treatment
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* Dietary Supplement: trehalose


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: DNA diagnosis of SCA 3 in the study subject of his/ her affected family member(s) Consent to participate in the study The age of 18 years and older Exclusion Criteria: Unconfirmed SCA 3 Concomitant disorder(s) that affect SARA and other ataxia measures used in this study Diabetes Malabsorption of trehalose underlies intolerance to mushrooms, since the lack of absorption results in diarrhoea and intestinal distress. Less than 18 years old

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: interventional<br>supplement: trehalose | Dietary Supplement: trehalose<br>* patients were instructed to ingest 100g of oral trehalose diluted in 500ml of water or other beverages daily<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| scale of rating of ataxia (SARA) score months, | Assessment of SARA scores by a single assessor | 2 monthly intervals for 6 months | 
| SCA Functional Index Scores | Assessment of SCAFI by a single assessor | 2 monthly intervals for 6 months | 
| EQ5D3L - quality of life scores | Assessment of quality of life scores | 2 monthly intervals for 6 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Side effects Profile | Adverse Effects | 2 monthly intervals for 6 months | 
| Blood investigation | Measurement of renal profile, fasting blood glucose, full blood count and liver profile | At baseline and at 6 months |