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

Effect of NBS on clinical outcome in VLCADD

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON25272

Enrollment

Registered

2017-06-20

Start date

2011-01-01

Completion date

Unknown

Last updated

2024-02-28

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) (OMIM 201475) In Nederland wordt dit aangeduid als VLCADD of VLCAD deficientie

Interventions

Diagnosis by newborn screening yes/no

Eligibility

Inclusion criteria

Inclusion criteria: 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).

Exclusion criteria

Exclusion criteria: No confirmed diagnosis of VLCADD (see inclusion criteria)

Design outcomes

Primary

Measure	Time frame
Hypoglycemia Cardiomyopathy and/ or arrhythmia Myopathy	—

Secondary

Measure	Time frame
Ability to attend school/ keep a job Admissions CK values	—

Contacts

Public ContactG. Visser

Metabole Ziekten, Wilhelmina Kinderziekenhuis/ UMCU, KE 04.306.0

gvisser4@umcutrecht.nl0031-887555555

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)