Energy Metabolism in Branched-chain Organic Acidemias

NCT ID: NCT03917212

Last Updated: 2019-04-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

57 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-03-31

Study Completion Date

2018-03-31

Brief Summary

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

Detailed Description

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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.

Conditions

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Energy Metabolism Metabolic Syndrome Insulin Resistance

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients

Patients with propionic acidemia, isovaleric acidemia, methylmalonic acidemia

No intervention

Intervention Type OTHER

No intervention, observational study with metabolic characterisation

Controls

Healthy humans

No intervention

Intervention Type OTHER

No intervention, observational study with metabolic characterisation

Interventions

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No intervention

No intervention, observational study with metabolic characterisation

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

5 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University Children's Hospital, Düsseldorf

UNKNOWN

Sponsor Role collaborator

German Diabetes Center

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Michael Roden, Professeor

Role: PRINCIPAL_INVESTIGATOR

German Diabetes Center

Regina Ensenauer, Professor

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital Düsseldorf

Locations

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Department of General Pediatrics, Neonatology and Pediatric Cardiology of the University Children's Hospital Düsseldorf

Düsseldorf, North Rhine-Westphalia, Germany

Site Status

Institute for Clinical Diabetology, German Diabetes Center

Düsseldorf, North Rhine-Westphalia, Germany

Site Status

Countries

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Germany

Other Identifiers

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MITO-MRS

Identifier Type: -

Identifier Source: org_study_id

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