Fasting tolerance in patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in the first six months of life: an investigator-initiated human pilot-study.

Recruiting

Conditions: Fatty-acid oxidation disorder
inborn error of metabolism
10021605

Registration Number: NL-OMON48331

Lead Sponsor: niversitair Medisch Centrum Groningen

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 20

Inclusion Criteria

1. Age below 6 months of life. In case of premature births, the child may be included and treated according to the corrected age.;2. Established MCADD diagnosis. The diagnosis should be confirmed by a combination of (a) NBS outcome (b) MCAD enzyme activity measured with phenylpropionyl-CoA as a substrate, ideally in lymphocytes (considered to be the golden standard) and (c) ACADM gene mutation analysis.

Exclusion Criteria

Any other chronic and/or genetic condition that is deemed an exclusion criterion based on the judgement of the treating metabolic paediatrician or investigators.

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>• Symptoms and signs of perturbed glucose homeostasis;<br /><br>• Signs of increasing lipolysis.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>• Dynamics of physiological parameters;<br /><br>• Dynamics of blood-gas-analysis;<br /><br>• Dynamics of remaining targeted metabolites in plasma and urine;<br /><br>• Dynamics of (untargeted) multi-omics (metabolomics, lipidomics, and<br /><br>proteomics) parameters.<br /><br>• (Untargeted) multi-omics (metabolomics, lipidomics, and proteomics) of<br /><br>hepatocytes, derived from induced-pluripotent stem cells (iPS), established<br /><br>from lymphocytes;<br /><br>• (When applicable) Dynamics of CGM-data.</p><br>