Multiple sulfatase deficiency. Disorders of sphingolipid metabolism and other lipid storage disorders
Conditions
Interventions
Intervention 1: 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 peri
Sponsors
Mashhad University of Medical Sciences
Eligibility
Sex/Gender
All
Age
6 Years to No maximum
Inclusion 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
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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
| Measure | Time frame |
|---|---|
| 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.;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.;Lactate dehydrogenase. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.;Aspartate aminotransferase. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.;Alanine aminotransferase. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.;Urea. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.;Creatinine. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.;Alkaline phosphatase. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.;Na. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.;K. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.;Total bilirubin. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.;Direct bilirubin. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurem | — |
Countries
Iran (Islamic Republic of)
Contacts
Public ContactMaryam Saberi-Karimian
Mashhad University of Medical Sciences
Outcome results
None listed