Effect of trehalose on treatment of Ataxia Telangiectasia

Phase 2

• Conditions: Ataxia Telangiectasia.; Cerebellar ataxia with defective DNA repair; G11.3

• Registration Number: IRCT20210413050958N8
• Lead Sponsor: Mashhad University of Medical Sciences

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 27 May 2024

Recruitment & Eligibility

• Status: Pending
• Sex: All
• Target Recruitment: 10

Inclusion Criteria

Signed informed consent form by the subjects or their parents after explaining the study objectives by the research team
Patients with a definitive diagnosis of Ataxia Telangiectasia
Having clinical signs
If the patient is taking any medication he/she should maintain a constant dose and not change his/her treatment during the study period
If the patient is receiving concomitant speech therapy or physiotherapy he/she has been on a stable duration and type of therapy for at least 4 weeks before visit 1 and throughout the duration of the study

Exclusion Criteria

not having informed consent to participate in the study
Asymptomatic patients
Patient who have clinical signs of Ataxia Telangiectasia, but do not have a confirmed genetic test for Ataxia Telangiectasia

Study & Design

• Study Type: interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Movement signs. Timepoint: Before the intervention and 8 weeks after taking Trehalose. Method of measurement: Using the Scale for Assessment and Rating of Ataxia (SARA) score and Spinocerebellar Ataxia Functional Index (SCAFI).