With 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…
ID
Bron
Aandoening
Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) (OMIM 201475)
In Nederland wordt dit aangeduid als VLCADD of VLCAD deficientie
Ondersteuning
Metakids (financial)
Onderzoeksproduct en/of interventie
Uitkomstmaten
Primaire uitkomstmaten
Hypoglycemia <br>
Cardiomyopathy and/ or arrhythmia <br>
Myopathy
Achtergrond van het onderzoek
Very 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.
Doel van het onderzoek
With 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.
Onderzoeksopzet
1-2 years
Onderzoeksproduct en/of interventie
Diagnosis by newborn screening yes/no
Algemeen / deelnemers
G. Visser
Postbus 85090
Utrecht 3508 AB
The Netherlands
0031-887555555
gvisser4@umcutrecht.nl
Wetenschappers
G. Visser
Postbus 85090
Utrecht 3508 AB
The Netherlands
0031-887555555
gvisser4@umcutrecht.nl
Belangrijkste voorwaarden om deel te mogen nemen (Inclusiecriteria)
All 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).
Belangrijkste redenen om niet deel te kunnen nemen (Exclusiecriteria)
No confirmed diagnosis of VLCADD (see inclusion criteria)
Opzet
Deelname
Opgevolgd door onderstaande (mogelijk meer actuele) registratie
Geen registraties gevonden.
Andere (mogelijk minder actuele) registraties in dit register
Geen registraties gevonden.
In overige registers
| Register | ID |
|---|---|
| NTR-new | NL6407 |
| NTR-old | NTR6582 |
| Ander register | METC UMC Utrecht : 10/430 en 15/582 |