Trehalose and multiple sulfatase deficiency (MSD)

Investigation of the therapeutic effects of Trehalose in a patient witn multiple sulfatase deficiency (MSD)

Status

Active, not recruiting

Phases

Phase 2

Study type

Interventional

Source

IRCT

Registry ID

IRCT20130829014521N17

Enrollment

Registered

2021-03-15

Start date

2021-02-19

Completion date

Unknown

Last updated

2021-04-26

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

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

Interventions

Intervention group: Trehalose solution 15% (C12H22O11) that is a nonreducing disaccharide consisting two glucose units are linked in an a,a-1,1-glycosidic linkage..

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Patients with definitive diagnosis of MSD

Exclusion criteria

Exclusion criteria:

Design outcomes

Primary

Measure	Time frame
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

Measure	Time frame
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).	—

Measure

Time frame

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).

—

Countries

Iran (Islamic Republic of)

Contacts

Public ContactAmirhossein Sahebkar

Mashhad University of Medical Sciences

sahebkara@mums.ac.ir+98 51 1882 9260

Outcome results

None listed

Source: IRCT (via WHO ICTRP) · Data processed: Feb 4, 2026