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

The role of biotinidase activity and deoxy-sphingolipids in glycogen storage disease type 1 and other disorders of carbohydrate and lipid metabolism

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ISRCTN

Registry ID

ISRCTN32319326

Enrollment

Registered

2017-02-28

Start date

2014-04-01

Completion date

Unknown

Last updated

2018-09-03

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

Conditions

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

Interventions

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 sampl

Eligibility

Sex/Gender

All

Inclusion 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

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.

Design outcomes

Primary

Measure	Time frame
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	—

Measure

Time frame

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

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

Countries

Switzerland

Outcome results

None listed

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