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

Completed

• Conditions: Glycogen storage disease type 1; Nutritional, Metabolic, Endocrine

• Registration Number: ISRCTN32319326
• Lead Sponsor: niversity Hospital Zurich

Brief Summary

2018 results in https://www.ncbi.nlm.nih.gov/pubmed/30037504

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2017-02-28
• Study Completion: 2017-10-31
• Last Update Posted: 3 September 2018

Recruitment & Eligibility

• Status: Completed
• Sex: All
• Target Recruitment: 40

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.

Study & Design

• Study Type: Observational
• Study Design: Not specified