The effects of trehalose on the improvement of clinical symptoms in patients with Ataxia Telangiectasia
Design
The current study is a single-arm, open-label pilot study. A total of 10 subjects are enrolled between Jun.21.2024 and Oct.23.2025.
Settings and conduct
Patients with Ataxia Telangiectasia who referring to Neurology Clinic of the Ghaem Hospital are enrolled in the study.
Participants/Inclusion and exclusion criteria
Inclusion criteria: Having a definitive diagnosis of Ataxia Telangiectasia with clinical signs, having a stable treatment. Exclusion criteria: Having chronic diarrhea, visual loss, malignancies, insulin-dependent diabetes mellitus, Having severe vision or hearing impairment, Having arthritis or other musculoskeletal disorders.
Intervention groups
Subjects in the intervention group receive Trehalose (10 gr TID) orally for 8 weeks (n=10).
Main outcome variables
Scale for Assessment and Rating of Ataxia (SARA) score; Spinocerebellar Ataxia Functional Index (SCAFI)
General information
Reason for update
Acronym
IRCT registration information
IRCT registration number:IRCT20210413050958N8
Registration date:2024-05-20, 1403/02/31
Registration timing:prospective
Last update:2024-05-20, 1403/02/31
Update count:0
Registration date
2024-05-20, 1403/02/31
Registrant information
Name
Maryam Saberi-Karimian
Name of organization / entity
Country
Iran (Islamic Republic of)
Phone
+98 51 3764 3808
Email address
saberikm@mums.ac.ir
Recruitment status
recruiting
Funding source
Expected recruitment start date
2024-06-21, 1403/04/01
Expected recruitment end date
2025-10-23, 1404/08/01
Actual recruitment start date
empty
Actual recruitment end date
empty
Trial completion date
empty
Scientific title
The effects of trehalose on the improvement of clinical symptoms in patients with Ataxia Telangiectasia
Public title
Effect of trehalose on treatment of Ataxia Telangiectasia
Purpose
Treatment
Inclusion/Exclusion 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:
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
Age
No age limit
Gender
Both
Phase
2
Groups that have been masked
No information
Sample size
Target sample size:
10
Randomization (investigator's opinion)
N/A
Randomization description
Blinding (investigator's opinion)
Not blinded
Blinding description
Placebo
Not used
Assignment
Single
Other design features
Secondary Ids
empty
Ethics committees
1
Ethics committee
Name of ethics committee
Research Ethics Committees of Imam Reza Hospital Educational, Research and Treatment Center, Mashhad
Street address
Research Council, Ghoreishi bildings, Daneshgah Ave.
City
Mashhad
Province
Razavi Khorasan
Postal code
99199-91766
Approval date
2024-04-15, 1403/01/27
Ethics committee reference number
IR.MUMS.IRH.REC.1403.026
Health conditions studied
1
Description of health condition studied
Ataxia Telangiectasia
ICD-10 code
G11.3
ICD-10 code description
Cerebellar ataxia with defective DNA repair
Primary outcomes
1
Description
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 outcomes
1
Description
The quality of life
Timepoint
Before the intervention and 8 weeks after taking trehalose
Method of measurement
Using PedsQL questionnaire
2
Description
Cell blood count
Timepoint
Before the intervention and 8 weeks after taking trehalose
Method of measurement
Sysmex Cell Counter
3
Description
Lactate dehydrogenase
Timepoint
Before the intervention and 8 weeks after taking trehalose
Method of measurement
Auto analyzer instrument
4
Description
Aspartate aminotransferase
Timepoint
Before the intervention and 8 weeks after taking trehalose
Method of measurement
Auto analyzer instrument
5
Description
Alanine aminotransferase
Timepoint
Before the intervention and 8 weeks after taking trehalose
Method of measurement
Auto analyzer instrument
6
Description
Urea
Timepoint
Before the intervention and 8 weeks after taking trehalose
Method of measurement
Auto analyzer instrument
7
Description
Creatinine
Timepoint
Before the intervention and 8 weeks after taking trehalose
Method of measurement
Auto analyzer instrument
8
Description
Alkaline phosphatase
Timepoint
Before the intervention and 8 weeks after taking trehalose
Method of measurement
Auto analyzer instrument
9
Description
Na
Timepoint
Before the intervention and 8 weeks after taking trehalose
Method of measurement
Auto analyzer instrument
10
Description
K
Timepoint
Before the intervention and 8 weeks after taking trehalose
Method of measurement
Auto analyzer instrument
11
Description
Total bilirubin
Timepoint
Before the intervention and 8 weeks after taking trehalose
Method of measurement
Auto analyzer instrument
12
Description
Food recall
Timepoint
Before the intervention and 8 weeks after taking trehalose
Method of measurement
24-hour food recall tool
Intervention groups
1
Description
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 Biotechnology Co., Ltd.
Category
Treatment - Drugs
Recruitment centers
1
Recruitment center
Name of recruitment center
Ghaem Hospital
Full name of responsible person
Maryam Saberi-Karimian
Street address
Ahmadabad Ave.
City
Mashhad
Province
Razavi Khorasan
Postal code
99199-91766
Phone
+98 51 3840 0001
Email
maryamsabery2012@gmail.com
Sponsors / Funding sources
1
Sponsor
Name of organization / entity
Mashhad University of Medical Sciences
Full name of responsible person
Dr. Mohsen Tafaghodi
Street address
Research Council, Ghoreishi bildings, Daneshgah Ave.
City
Mashhad
Province
Razavi Khorasan
Postal code
99199-91766
Phone
+98 51 3845 2472
Email
tafaghodim@mums.ac.ir
Grant name
Grant code / Reference number
Is the source of funding the same sponsor organization/entity?
Yes
Title of funding source
Mashhad University of Medical Sciences
Proportion provided by this source
100
Public or private sector
Public
Domestic or foreign origin
Domestic
Category of foreign source of funding
empty
Country of origin
Type of organization providing the funding
Academic
Person responsible for general inquiries
Contact
Name of organization / entity
Mashhad University of Medical Sciences
Full name of responsible person
Maryam Saberi-Karimian
Position
Assistant professor
Latest degree
Ph.D.
Other areas of specialty/work
Biochemistry
Street address
Ahmadabad Street, Ghaem Hospital
City
Mashhad
Province
Razavi Khorasan
Postal code
99199-91766
Phone
+98 51 3840 0001
Email
saberikm@mums.ac.ir
Person responsible for scientific inquiries
Contact
Name of organization / entity
Mashhad University of Medical Sciences
Full name of responsible person
Maryam Saberi-Karimian
Position
Associate professor
Latest degree
Ph.D.
Other areas of specialty/work
Biochemistry
Street address
Ahmadabad Street, Ghaem Hospital
City
Mashhad
Province
Razavi Khorasan
Postal code
99199-91766
Phone
+98 51 3840 0001
Email
saberikm@mums.ac.ir
Person responsible for updating data
Contact
Name of organization / entity
Mashhad University of Medical Sciences
Full name of responsible person
Maryam Saberi-Karimian
Position
Associate professor
Latest degree
Ph.D.
Other areas of specialty/work
Biochemistry
Street address
Ahmadabad Street, Ghaem Hospital
City
Mashhad
Province
Razavi Khorasan
Postal code
99199-91766
Phone
+98 51 3840 0001
Email
saberikm@mums.ac.ir
Sharing plan
Deidentified Individual Participant Data Set (IPD)
Undecided - It is not yet known if there will be a plan to make this available
Study Protocol
Yes - There is a plan to make this available
Statistical Analysis Plan
No - There is not a plan to make this available
Informed Consent Form
Undecided - It is not yet known if there will be a plan to make this available
Clinical Study Report
Yes - There is a plan to make this available
Analytic Code
No - There is not a plan to make this available
Data Dictionary
No - There is not a plan to make this available
Title and more details about the data/document
Following a reasonable request, deidentified data will be shared.
When the data will become available and for how long
After publication of paper(s) upon a reasonable request
To whom data/document is available
Study PI and executive team
Under which criteria data/document could be used
For reasonable research or clinical purpose
From where data/document is obtainable
Dr. Maryam Saberi-Karimian
What processes are involved for a request to access data/document