Effect of N-Acetyl-L-Leucine in treatment of Multiple Sulfatase Deficiency

Phase 2

Recruiting

Conditions: Multiple sulfatase deficiency.
Disorders of sphingolipid metabolism and other lipid storage disorders

Registration Number: IRCT20210413050958N5

Lead Sponsor: Mashhad University of Medical Sciences

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: All

Target Recruitment: 1

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

Study & Design

Study Type: interventional

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures