Ataxia Telangiectasia. Cerebellar ataxia with defective DNA repair
Conditions
Interventions
Intervention group: In treatment group (n=10), Trehalose powder is taken orally (10 gr TID) in subjects with Ataxia Telangiectasia for 8 weeks. Supplements are provided by Shaanxi Fruiterco Biotechnol
Sponsors
Mashhad University of Medical Sciences
Eligibility
Sex/Gender
All
Inclusion criteria
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
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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). | — |
Secondary
| Measure | Time frame |
|---|---|
| The quality of life. Timepoint: Before the intervention and 8 weeks after taking trehalose. Method of measurement: Using PedsQL questionnaire.;Cell blood count. Timepoint: Before the intervention and 8 weeks after taking trehalose. Method of measurement: Sysmex Cell Counter.;Lactate dehydrogenase. Timepoint: Before the intervention and 8 weeks after taking trehalose. Method of measurement: Auto analyzer instrument.;Aspartate aminotransferase. Timepoint: Before the intervention and 8 weeks after taking trehalose. Method of measurement: Auto analyzer instrument.;Alanine aminotransferase. Timepoint: Before the intervention and 8 weeks after taking trehalose. Method of measurement: Auto analyzer instrument.;Urea. Timepoint: Before the intervention and 8 weeks after taking trehalose. Method of measurement: Auto analyzer instrument.;Creatinine. Timepoint: Before the intervention and 8 weeks after taking trehalose. Method of measurement: Auto analyzer instrument.;Alkaline phosphatase. Timepoint: Before the intervention and 8 weeks after taking trehalose. Method of measurement: Auto analyzer instrument.;Na. Timepoint: Before the intervention and 8 weeks after taking trehalose. Method of measurement: Auto analyzer instrument.;K. Timepoint: Before the intervention and 8 weeks after taking trehalose. Method of measurement: Auto analyzer instrument.;Total bilirubin. Timepoint: Before the intervention and 8 weeks after taking trehalose. Method of measurement: Auto analyzer instrument.;Food recall. Timepoint: Before the intervention and 8 weeks after taking trehalose. Method of measurement: 24-hour food recall tool. | — |
Countries
Iran (Islamic Republic of)
Contacts
Public ContactMaryam Saberi-Karimian
Mashhad University of Medical Sciences
Outcome results
None listed