Status:
UNKNOWN
Fasting Tolerance in MCADD-infants
Lead Sponsor:
University Medical Center Groningen
Conditions:
Mcad Deficiency
Eligibility:
All Genders
2-6 years
Phase:
NA
Brief Summary
MCAD deficiency (MCADD; #OMIM 201450) is the most common inherited disorder of mitochondrial fatty acid oxidation. Already before the introduction of population newborn bloodspot screening (NBS), larg...
Detailed Description
Rationale: MCAD deficiency (MCADD; #OMIM 201450) is the most common inborn error of mitochondrial fatty acid oxidation. Already before the introduction of population newborn bloodspot screening (NBS),...
Eligibility Criteria
Inclusion
- A child must be at least younger than 6 months of life at inclusion. In case of prematurity, the child will be included and treated according to the adjusted age.
- 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
- Any other chronic and/or genetic condition that is deemed an exclusion criterion based on the judgement of the treating metabolic paediatrician.
Key Trial Info
Start Date :
May 15 2019
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
January 1 2024
Estimated Enrollment :
20 Patients enrolled
Trial Details
Trial ID
NCT03761693
Start Date
May 15 2019
End Date
January 1 2024
Last Update
May 14 2019
Active Locations (1)
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1
University Medical Center Groningen
Groningen, Netherlands, 9700 RB