Trehalose and multiple sulfatase deficiency (MSD)

Phase 2

• Conditions: Multiple sulfatase deficiency.; Multiple sulfatase deficiency (also known as 'Austin disease', and 'mucosulfatidosis') is a very rare autosomal recessive lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activate; E75.2

• Registration Number: IRCT20130829014521N17
• Lead Sponsor: Mashhad University of Medical Sciences

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Last Update Posted: 26 April 2021

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 1

Inclusion Criteria

Patients with definitive diagnosis of MSD

Exclusion Criteria

Not provided

Study & Design

• Study Type: interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Assessment of health-related quality of life. Timepoint: A before-and-after study (At the beginning and end of the intervention trial (Day 0 and week 12). Method of measurement: The TAPQOL is a 43 item questionnaire consisting of 12multi-item scales that cover the domains physical, social, cognitive, and emotional functioning.

Secondary Outcome Measures

Name	Time	Method
1- Sonographic assessment of liver and spleen size. Timepoint: A before-and-after study (At the beginning and end of the intervention trial (Day 0 and week 12). Method of measurement: Liver and spleen size can be evaluated with sonography.;2-biochemical assays to evaluate the levels of serum enzymes such as ALT and AST. Timepoint: A before-and-after study (At the beginning and end of the intervention trial (Day 0 and week 12). Method of measurement: Enzymatic assay.;Evaluation of brain lesions. Timepoint: A before-and-after study (At the beginning and end of the intervention trial (Day 0 and week 12). Method of measurement: Brain imaging methods (scan-MRI).