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What is the effect of newborn screening on the clinical outcome of VLCADD patients


- candidate number27432
- NTR NumberNTR6582
- ISRCTNISRCTN no longer applicable
- Date ISRCTN created
- date ISRCTN requested
- Date Registered NTR20-jun-2017
- Secondary IDs10/430 en 15/582 METC UMC Utrecht
- Public TitleWhat is the effect of newborn screening on the clinical outcome of VLCADD patients
- Scientific TitleEffect of NBS on clinical outcome in VLCADD
- ACRONYM
- hypothesisWith the introduction of very long chain acyl-CoA dehydrogenase deficiency (VLCADD) in newborn screening (NBS) programs, the number of diagnosed patients has rapidly increased. Most infants are asymptomatic at time of diagnosis and remain so. The lingering question is whether this is an effect of prompt diagnosis or of diagnosing asymptomatic individuals.
- Healt Condition(s) or Problem(s) studiedVLCADD
- Inclusion criteriaAll patient have a confirmed diagnosis based on deficient VLCAD enzymatic activity in lymphocytes and/or cultured fibroblasts and the presence of biallelic mutations in the ACADVL gene (OMIM 609575).
- Exclusion criteriaNo confirmed diagnosis of VLCADD (see inclusion criteria)
- mec approval receivedyes
- multicenter trialno
- randomisedno
- groupParallel
- Type2 or more arms, non-randomized
- Studytypeobservational
- planned startdate 1-jan-2011
- planned closingdate1-jan-2031
- Target number of participants50
- InterventionsDiagnosis by newborn screening yes/no
- Primary outcomeHypoglycemia
Cardiomyopathy and/ or arrhythmia
Myopathy
- Secondary outcomeAbility to attend school/ keep a job
Admissions
CK values
- Timepoints1-2 years
- Trial web site
- statusopen: patient inclusion
- CONTACT FOR PUBLIC QUERIESDr. G. Visser
- CONTACT for SCIENTIFIC QUERIESDr. G. Visser
- Sponsor/Initiator University Medical Center Utrecht (UMCU)
- Funding
(Source(s) of Monetary or Material Support)
ZonMw, Metakids
- Publications
- Brief summaryVery long chain acyl-CoA dehydrogenase deficiency (VLCADD) is an autosomal recessive inherited disorder of mitochondrial long-chain fatty acid beta-oxidation. In The Netherlands, VLCADD was included in the newborn screening (NBS) panel since 2007. The aim of this study is to evaluate the effect of NBS on clinical outcome in VLCADD. Therefore, comparison will take place of genetic, biochemical, and clinical characteristics of all VLCADD patients diagnosed before NBS and by NBS that are registered in the Dutch Database Registry of Metabolic Diseases (DDRMD). Simultaneously prospective clinical evaluation of these patients will be performed by a standardized protocol in the Dutch Expertise Center for Fatty Acid Oxidation Disorders.
- Main changes (audit trail)
- RECORD20-jun-2017 - 5-aug-2017


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