Effect of N-Acetyl-l-Leucine in treatment of ataxia-telangiectasia

Phase 2

Not yet recruiting

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

• Registration Number: IRCT20210413050958N1
• Lead Sponsor: Mashhad University of Medical Sciences

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 2021-11-29

Recruitment & Eligibility

• Status: Pending
• Sex: All
• Target Recruitment: 16

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 AT
Having clinical signs
Not addiction to Drugs and alcohol
If the patient is receiving concomitant speech therapy or physiotherapy, he/she has been on a stable dose/duration and type of therapy for at least 4 weeks before visit 1 and throughout the duration of the study
If the patient is taking any medication, he/she should maintain a constant dose/not change his/her treatment during the study period.

Exclusion Criteria

Have not taken any forbidden drugs (including any variant of N-acetyl-DL-leucine, aminopyridines, Riluzole, gabapentin, Varenicline, Chlorzoxazone, sulfasalazine, Rosuvastatin at least 4 weeks before visit 1 and throughout the duration of the study
Asymptomatic patients
Patient who have clinical signs of A-T, but do not have a confirmed genetic test for A-T
Patients who have any of the following: Chronic diarrhea, Unexplained visual loss, Malignancies, Insulin-dependent diabetes mellitus, Known history of hypersensitivity to the N-Acetyl-Leucine (DL-, L-, D-) or derivatives
Having severe vision or hearing impairment that interferes with their ability to complete study assessments
Having a definite diagnosis of arthritis or other musculoskeletal disorders that affects patient's mobility and interferes with their ability to complete study assessments

Study & Design

• Study Type: interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Movement signs. Timepoint: Before the intervention and 6 weeks after taking supplement or placebo in every study stage. Method of measurement: Using the Scale for Assessment and Rating of Ataxia (SARA) score and Spinocerebellar Ataxia Functional Index (SCAFI).