Energy Metabolism in Branched-chain Organic Acidemias

Completed

• Conditions: Metabolic Syndrome; Energy Metabolism; Insulin Resistance
• Interventions: Other: No intervention

• Registration Number: NCT03917212
• Lead Sponsor: German Diabetes Center

Brief Summary

Energy metabolism and insulin sensitivity were assessed in a case-control study in patients with branched-chain organic acidemias.

Detailed Description

Children and adults with branched-chain organic acidemias and matched healthy humans underwent deep metabolic phenotyping using non-invasive magnetic resonance spectroscopy, oral glucose tolerance tests and measurements of leucocyte respirometry in order to assess changes in energy metabolism and insulin sensitivity.

Study Timeline

• Study Start: 2012-03
• Primary Completion: 2017-11
• Study Completion: 2018-03
• Status Verified: 2019-04
• Study First Submitted: 2019-04-09
• Study First Submitted QC: 2019-04-15
• Last Update Submitted: 2019-04-15
• Study First Posted: 2019-04-16
• Last Update Posted: 2019-04-16

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 57

Inclusion Criteria

• known branched-chain organic acidemia diagnosed by enzymatic or genetic test
• age>5 years

Exclusion Criteria

• acute inflammatory conditions with fever, cold symptoms, gastro-intestinal infection within the last 24 hours
• contraindications for an oral glucose tolerance test such as fasting blood glucose >126 mg/dl, severe chronic gastrointestinal conditions, allergy against black currant
• contraindications for magnetic resonance tomography (MRT) such as claustrophobia, metallic implants which are not MRT compatible

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patients	No intervention	Patients with propionic acidemia, isovaleric acidemia, methylmalonic acidemia
Controls	No intervention	Healthy humans

Primary Outcome Measures

Name	Time	Method
Hepatic and skeletal muscle energy metabolism	At baseline	Hepatic and skeletal muscle energy metabolism assessed by magnetic resonance spectroscopy

Secondary Outcome Measures

Name	Time	Method
Insulin sensitivity	At baseline	Insulin sensitivity measured from oral glucose tolerance test

Trial Locations

Locations (2)

Institute for Clinical Diabetology, German Diabetes Center; 🇩🇪 Düsseldorf, NRW, Germany

Department of General Pediatrics, Neonatology and Pediatric Cardiology of the University Children's Hospital Düsseldorf; 🇩🇪 Düsseldorf, NRW, Germany