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The effects of N-Acetyl-L-Leucine on the improvement of symptoms in A patient with Multiple Sulfatase Deficiency

Protocol summary

Study aim
The effects of N-Acetyl-L-Leucine on the improvement of motor symptoms in A patient with Multiple Sulfatase Deficiency
Design
The present study is a phase 2 randomized double-blind crossover clinical trial with parallel groups. A total of 1 patient will be admitted to the study from May 22, 2022. The drug allocation sequence is performed in a simple random method.
Settings and conduct
A patient with multiple sulfatase deficiency who referring to Neurology Clinic of the Ghaem Hospital are enrolled in the study. The volunteer, care providers and statistician are blinded after assignment to intervention. So that, the supplements containers were coded as A and B by a non-researcher person and remained confidential until data analysis. The placebos caplet are similar to the supplements regarding the weight and color.
Participants/Inclusion and exclusion criteria
Inclusion criteria: Patient with a definitive diagnosis of multiple sulfatase deficiency having clinical signs, and has not taken any forbidden drugs. Exclusion criteria: Patient with chronic diarrhea, visual loss, malignancies, insulin-dependent diabetes mellitus, known history of hypersensitivity to the N-Acetyl-Leucine, having severe vision or hearing impairment, having a definite diagnosis of arthritis or other musculoskeletal disorders.
Intervention groups
In treatment group (n=1), N-acetyl-L-leucine caplet is taken orally in subject with Multiple Sulfatase Deficiency for 4 weeks and then after a 4-weeks wash-out period, he/she is crossed over to the alternate regimen. In the control group (n=1), placebo caplet of the same shape, weight and colour is used in patients with Multiple Sulfatase Deficiency for 4 weeks and then after a 4-weeks wash-out period, he/she is crossed over to the alternate regimen.
Main outcome variables
The 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: IRCT20210413050958N5
Registration date: 2022-06-08, 1401/03/18
Registration timing: registered_while_recruiting

Last update: 2022-06-08, 1401/03/18
Update count: 0
Registration date
2022-06-08, 1401/03/18
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
Recruitment complete
Funding source
Expected recruitment start date
2022-05-31, 1401/03/10
Expected recruitment end date
2022-10-07, 1401/07/15
Actual recruitment start date
empty
Actual recruitment end date
empty
Trial completion date
empty
Scientific title
The effects of N-Acetyl-L-Leucine on the improvement of symptoms in A patient with Multiple Sulfatase Deficiency
Public title
Effect of N-Acetyl-L-Leucine in treatment of Multiple Sulfatase Deficiency
Purpose
Treatment
Inclusion/Exclusion criteria
Inclusion criteria:
Age over 6 years Patient with a definitive diagnosis of Multiple Sulfatase Deficiency Having clinical signs 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 Patient who has 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, History of known hypersensitivity to excipients of Ora-Blend® (namely sucrose, sorbitol, cellulose, carboxymethylcellulose, xanthan gum, carrageenan, dimethicone, methylparaben, and potassium sorbate) 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
Age
From 6 years old
Gender
Both
Phase
2
Groups that have been masked
  • Participant
  • Care provider
  • Investigator
  • Data analyser
Sample size
Target sample size: 1
Randomization (investigator's opinion)
Randomized
Randomization description
The drug allocation sequence is made in a simple random method. Sequentially numbered sealed envelopes are used to implement the random allocation sequence which opened by a person not involved in the project.
Blinding (investigator's opinion)
Double blinded
Blinding description
The volunteer, care provider and statistician are blinded after assignment to intervention. So that, the supplements containers were coded as A and B by a non-researcher person and remained confidential until data analysis. The placebos are similar to the supplements regarding the weight and color.
Placebo
Used
Assignment
Crossover
Other design features

Secondary Ids

empty

Ethics committees

1

Ethics committee
Name of ethics committee
Ethics committee of Mashhad University of Medical Sciences
Street address
Daneshgah Ave., Ghoreishi buildings
City
Mashhad
Province
Razavi Khorasan
Postal code
99199-91766
Approval date
2022-05-17, 1401/02/27
Ethics committee reference number
IR.MUMS.MEDICAL.REC.1401.127

Health conditions studied

1

Description of health condition studied
Multiple sulfatase deficiency
ICD-10 code
E75
ICD-10 code description
Disorders of sphingolipid metabolism and other lipid storage disorders

Primary outcomes

1

Description
Movement signs
Timepoint
Before the intervention and 4 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)

Secondary outcomes

1

Description
The quality of life
Timepoint
Before the intervention and 4 weeks after taking supplement or placebo in every study stage
Method of measurement
Using PedsQL questionnaire

2

Description
Cell blood count
Timepoint
Before the intervention and 4 weeks after taking supplement or placebo in every study stage
Method of measurement
Sysmex Cell Counter

3

Description
Lactate dehydrogenase
Timepoint
Before the intervention and 4 weeks after taking supplement or placebo in every study stage
Method of measurement
Auto analyzer instrument

4

Description
Aspartate aminotransferase
Timepoint
Before the intervention and 4 weeks after taking supplement or placebo in every study stage
Method of measurement
Auto analyzer instrument

5

Description
Alanine aminotransferase
Timepoint
Before the intervention and 4 weeks after taking supplement or placebo in every study stage
Method of measurement
Auto analyzer instrument

6

Description
Urea
Timepoint
Before the intervention and 4 weeks after taking supplement or placebo in every study stage
Method of measurement
Auto analyzer instrument

7

Description
Creatinine
Timepoint
Before the intervention and 4 weeks after taking supplement or placebo in every study stage
Method of measurement
Auto analyzer instrument

8

Description
Alkaline phosphatase
Timepoint
Before the intervention and 4 weeks after taking supplement or placebo in every study stage
Method of measurement
Auto analyzer instrument

9

Description
Na
Timepoint
Before the intervention and 4 weeks after taking supplement or placebo in every study stage
Method of measurement
Auto analyzer instrument

10

Description
k
Timepoint
Before the intervention and 4 weeks after taking supplement or placebo in every study stage
Method of measurement
Auto analyzer instrument

11

Description
Total bilirubin
Timepoint
Before the intervention and 4 weeks after taking supplement or placebo in every study stage
Method of measurement
Auto analyzer instrument

12

Description
Direct bilirubin
Timepoint
Before the intervention and 4 weeks after taking supplement or placebo in every study stage
Method of measurement
Auto analyzer instrument

Intervention groups

1

Description
Subject in the intervention group receives N-Acetyl-L-Leucine caplets (daily intake of 2-4 gr depending on the subject’ weight) for 4 weeks (n=1) and then after a 4-weeks wash-out period, he/she is crossed over to the placebo. The participant takes the supplement every day, which is contained in an unlabeled bottle. Supplements are from Hubei ipure Biotech co., ltd (Shenzhen, China).
Category
Treatment - Drugs

2

Description
The subject receives a placebo caplet (daily consumption between 2 to 4 grams depending on the subject's weight) for 4 weeks (n=1) and then after a 4-weeks wash-out period, he/she is crossed over to the alternate regimen (N-Acetyl-L- Leucine). Participant takes a placebo every day orally in an unlabeled bottle. The placebo is prepared by from faculty of pharmacy (Mashhad, Iran) company.
Category
Placebo

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
Majid Ghayour-Mobarhan
Street address
Research Council, Ghoreishi bilding, Daneshgah Street
City
Mashhad
Province
Razavi Khorasan
Postal code
9138813944
Phone
+98 51 3841 1538
Email
ghayourm@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
Associate professor
Latest degree
Ph.D.
Other areas of specialty/work
Biochemistry
Street address
Ghaem Hospital, Ahmadabad Ave.
City
Mashhad
Province
Razavi Khorasan
Postal code
99199-91766
Phone
+98 51 3840 0001
Email
maryamsabery2012@gmail.com

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
Ghaem Hospital, Ahmadabad Ave.
City
Mashhad
Province
Razavi Khorasan
Postal code
99199-91766
Phone
+98 51 3840 0001
Email
maryamsabery2012@gmail.com

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
Ghaem Hospital, Ahmadabad Ave.
City
Mashhad
Province
Razavi Khorasan
Postal code
99199-91766
Phone
+98 51 3840 0001
Email
maryamsabery2012@gmail.com

Sharing plan

Deidentified Individual Participant Data Set (IPD)
No - There is not a plan to make this available
Justification/reason for indecision/not sharing IPD
Following a reasonable request, deidentified data will be shared.
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
-
When the data will become available and for how long
-
To whom data/document is available
-
Under which criteria data/document could be used
-
From where data/document is obtainable
-
What processes are involved for a request to access data/document
-
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