ISRCTN11831849
Completed
Not Applicable
Observational study on the dietary habits and clinical outcome of Dutch VLCADD patients
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Not specified
- Sponsor
- niversity Medical Center Utrecht
- Enrollment
- 16
- Status
- Completed
- Last Updated
- 7 years ago
Overview
Brief Summary
2018 results in: https://www.ncbi.nlm.nih.gov/pubmed/29556839
Investigators
Eligibility Criteria
Inclusion Criteria
- •1\. Confirmed diagnosis based on deficient VLCADD enzymatic activity in lymphocytes and/or cultured fibroblasts
- •2\. Presence of biallelic mutations in the ACADVL gene (OMIM 609575\). The diagnosis should not be based on newborn screening.
- •3\. Aged between 10 to 99 years old
Exclusion Criteria
- •Diagnosis based on results of Newborn Screening
Outcomes
Primary Outcomes
Not specified
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