Protocol summary
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Study aim
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Investigation of the effects of trehalose on quality of life status and paraclinical findings of patients with lysosomal storage disorders (Niemann-Pick and mucopolysaccharidosis type III (Sanfilippo))
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Design
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Single-arm clinical trial (without control group), phase 2, on 40 patients
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Settings and conduct
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Patients with Niemann-Pick or mucopolysaccharidosis type III (Sanfilippo) with mentioned inclusion criteria, will be enrolled to this study. The Trehalose (15 gr per week) will be administered intravenous (IV) for 12 weeks. The patients will be assessed before and after the intervention.
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Participants/Inclusion and exclusion criteria
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Inclusion Criteria: Patients with Niemann-Pick or mucopolysaccharidosis type III (Sanfilippo) that sign informed consent (For children, their parents or legal guardians should sign informed consent).
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Intervention groups
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Intervention group: IV Trehalose 15 gr per week for 12 weeks made by Dr. Rajabi Pharmaceutical Co.
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Main outcome variables
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Primary Outcome: Quality of life (by Peds.QL in <18 and SF-36 for those over the age of 18).
Secondary outcomes: The size of liver and spleen, Plasma Sphingomyelin Level, Serum heparan sulfate level, Heparan sulfate and glycosaminoglycans levels in the urine, Lung HRCT, CBC, Liver enzymes (AST, ALT), LDH, Creatinine.
General information
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Reason for update
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Due to the rarity of the disease and death of some of previously identified patients (suffering from San Filippo or Niemann-Pick syndrome), the sample size is reduced. All types of Niemann-Pick and mucopolysaccharidosis type III (Sanfilippo) will be entered to this trial.
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Acronym
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IRCT registration information
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IRCT registration number:
IRCT20130829014521N23
Registration date:
2023-10-27, 1402/08/05
Registration timing:
prospective
Last update:
2024-02-04, 1402/11/15
Update count:
1
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Registration date
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2023-10-27, 1402/08/05
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Registrant information
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Recruitment status
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recruiting
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Funding source
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Expected recruitment start date
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2024-04-08, 1403/01/20
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Expected recruitment end date
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2026-04-09, 1405/01/20
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Actual recruitment start date
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empty
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Actual recruitment end date
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empty
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Trial completion date
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empty
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Scientific title
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Investigation of the effects of trehalose on quality of life status and paraclinical findings of patients with lysosomal storage disorders (Niemann-Pick and mucopolysaccharidosis type III (Sanfilippo))
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Public title
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Investigation of the effects of trehalose on quality of life of patients with lysosomal storage disorders
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Purpose
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Treatment
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Inclusion/Exclusion criteria
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Inclusion criteria:
Patients with Niemann-Pick and mucopolysaccharidosis type III
Informed consents of the patients or their parents(for children)
Exclusion criteria:
Special medical conditions
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Age
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No age limit
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Gender
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Both
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Phase
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2
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Groups that have been masked
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No information
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Sample size
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Target sample size:
40
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Randomization (investigator's opinion)
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N/A
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Randomization description
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Blinding (investigator's opinion)
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Not blinded
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Blinding description
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Placebo
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Not used
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Assignment
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Single
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Other design features
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Ethics committees
1
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Ethics committee
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Approval date
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2023-09-23, 1402/07/01
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Ethics committee reference number
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IR.MUMS.REC.1402.213
Health conditions studied
1
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Description of health condition studied
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Niemann-Pick
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ICD-10 code
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E75.2
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ICD-10 code description
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Other sphingolipidosis
2
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Description of health condition studied
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Mucopolysaccharidosis type III (Sanfilippo)
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ICD-10 code
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E76.2
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ICD-10 code description
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Other mucopolysaccharidoses
Primary outcomes
1
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Description
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Quality of life
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Timepoint
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Baseline and after 12 weeks
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Method of measurement
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Peds-ql questionnaire and SF-36 will be fulfilled for those under and over 18, respectively.
Secondary outcomes
1
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Description
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The size of liver and spleen
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Timepoint
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Baseline and after 12 weeks
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Method of measurement
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Sonography
2
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Description
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Plasma Sphingomyelin Level
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Timepoint
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Baseline and after 12 weeks
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Method of measurement
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Blood test
3
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Description
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Serum heparan sulfate level
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Timepoint
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Baseline and after 12 weeks
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Method of measurement
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Blood test
4
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Description
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Heparan sulfate and glycosaminoglycans levels in the urine
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Timepoint
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Baseline and after 12 weeks
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Method of measurement
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Urine Analysis
5
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Description
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Lung HRCT (High-resolution computed tomography)
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Timepoint
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Baseline and after 12 weeks
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Method of measurement
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HRCT
6
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Description
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Complete Blood Count (CBC)
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Timepoint
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Baseline and after 12 weeks
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Method of measurement
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Blood test
7
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Description
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Liver enzymes including glutamic-oxaloacetic transaminase (SGOT) and Serum glutamic pyruvic transaminase (SGPT)
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Timepoint
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Baseline and after 12 weeks
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Method of measurement
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Blood test
8
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Description
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Creatinine
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Timepoint
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Baseline and after 12 weeks
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Method of measurement
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Blood test
9
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Description
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Lactate dehydrogenase (LDH)
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Timepoint
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Baseline and after 12 weeks
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Method of measurement
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Blood test
Intervention groups
1
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Description
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Intervention group: IV Trehalose 15 gr per week for 12 weeks
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Category
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Treatment - Drugs
1
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Sponsor
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Grant name
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Grant code / Reference number
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Is the source of funding the same sponsor organization/entity?
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Yes
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Title of funding source
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Vice-chancellor of research and technology of the Ministry of health and medical education
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Proportion provided by this source
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100
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Public or private sector
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Public
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Domestic or foreign origin
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Domestic
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Category of foreign source of funding
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empty
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Country of origin
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Type of organization providing the funding
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Academic
Sharing plan
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Deidentified Individual Participant Data Set (IPD)
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Undecided - It is not yet known if there will be a plan to make this available
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Study Protocol
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Undecided - It is not yet known if there will be a plan to make this available
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Statistical Analysis Plan
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Undecided - It is not yet known if there will be a plan to make this available
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Informed Consent Form
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Undecided - It is not yet known if there will be a plan to make this available
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Clinical Study Report
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Undecided - It is not yet known if there will be a plan to make this available
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Analytic Code
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Undecided - It is not yet known if there will be a plan to make this available
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Data Dictionary
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Undecided - It is not yet known if there will be a plan to make this available