Biotinidase activity and deoxy-sphingolipids as biomarkers in glycogen storage disease type 1

• Register: ISRCTN
• Last refreshed on: 3 September 2018
• Main ID: ISRCTN32319326
• Date of registration: 28/02/2017
• Prospective Registration: No
• Primary sponsor: University Hospital Zurich
• Public title: Biotinidase activity and deoxy-sphingolipids as biomarkers in glycogen storage disease type 1
• Scientific title: The role of biotinidase activity and deoxy-sphingolipids in glycogen storage disease type 1 and other disorders of carbohydrate and lipid metabolism
• Date of first enrolment: 01/04/2014
• Target sample size: 40
• Recruitment status: Completed
• URL: http://isrctn.com/ISRCTN32319326
• Study type: Observational
• Study design: Mono-centric epidemiological observational cohort study (Other)

Countries of recruitment

Switzerland

Contacts

• Name: Michel Hochuli

Key inclusion & exclusion criteria

Inclusion criteria: Patients:
1. Over 16 years of age)
2. Signed informed consent
3. Diagnosis of Glycogen storage disease type 1, hypertriglyceridemia, diabetes mellitus or non-alcoholic fatty liver disease (NAFLD)

Healthy controls:
1. Male or female aged 18 years and over
2. Healthy, no chronic disease, no intercurrent disease at time of examination/blood draw, normal weight (BMI 19-25 kg/m2), no excessive alcohol consumption
3. Signed informed consent
Exclusion criteria: Patients:
1. Contraindications on ethical grounds
2. Hepatocellular carcinoma (GSD1)
3. Women who are pregnant or breast feeding

Health Controls:
Any relevant chronic or intercurrent disease at the time of examination.

Age minimum:
Age maximum:
Gender: Both

Health Condition(s) or Problem(s) studied

Glycogen storage disease type 1
Nutritional, Metabolic, Endocrine
Glycogen storage disease type 1

Intervention(s)

GSD1 patients: The total duration of observation after enrolment is two years. Usual medical and dietary treatment is continued during the study (no study specific treatment intervention). Blood samples for analysis of study specific laboratory tests (biotinidase activity, plasma fatty acid profiles, sphingolipid profiles, metabolite profiles) are collected at each regular consultation during the study period (usually every 4-6 months). A single measurement of nerve conduction (electroneurography) is performed any time during the observation period.

Patients with hypertriglyceridemia, Diabetes mellitus or NAFLD: Blood samples for the study specific laboratory tests are collected on the occasion of two regular outpatient consultations during 12 months.

Healthy controls: A single blood sample is collected at time of enrolment.

Primary Outcome(s)

1. Biotinidase activity in plasma is measured using a standardized colorimetric assay at the time of each regular consultation during the study period (usually every 4-6 months) for patients and at the time of enrollment for healthy controls
2. Concentration of deoxy-Sphingolipids in plasma is measured using GC-MS at the time of each regular consultation during the study period (usually every 4-6 months) for patients and at the time of enrollment for healthy controls

Secondary Outcome(s)

Motor and sensory nerve conduction velocity is measured using electroneurography (ENG), one single any time during the observation period (only GSD1 patients).

Secondary ID(s)

KEK-ZH Nr. 2013-0632

Source(s) of Monetary Support

University of Zurich, Clinical Research Priority Program (CRPP) radiz - Rare Disease Initiative Zurich

Ethics review

Status:
Approval date:
Contact:

Ethics Committee Zurich, 07/05/2014, ref: 2013-0632

Results

• Results available: Yes
• Date Completed: 31/10/2017