Optimizing therapeutic strategies in VLCADD
Completed
- Conditions
- Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) is an autosomal recessive inherited disorder of mitochondrial long-chain fatty acid beta-oxidation (OMIM 201475)Nutritional, Metabolic, Endocrine
- Registration Number
- ISRCTN11831849
- Lead Sponsor
- niversity Medical Center Utrecht
- Brief Summary
2018 results in: https://www.ncbi.nlm.nih.gov/pubmed/29556839
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- All
- Target Recruitment
- 16
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
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Clinical outcomes are measured using the Clinical Severity Score (CSS) during visits to the Dutch FAO (around everyone to two years).
- Secondary Outcome Measures
Name Time Method Ability to work/ attend a regular school as reported by the patient or parents is measured using a standardized questionnaire at each visit to the Dutch FAO expertise center at the University Medical Center Utrecht.