OCTN2 Deficiency Implementation in Newborn screening

Evaluation of genetic, enzymatic, biochemical and clinical characteristics of OCTN2 deficiency to determine if newborn screening is useful and feasible

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON26974

Enrollment

380

Registered

2019-07-26

Start date

2019-07-24

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

OCTN2 deficiency

Interventions

None listed

Eligibility

Inclusion criteria

Inclusion criteria: - OCTN2 deficiency, confirmed by reduced carnitine transporter activity in cultured fibroblasts and/or mutations in the SLC22A5 gene. - Subject referred to academic centre for OCTN2 deficiency because of low carnitine level in NBS. - Mother analysed in academic centre for OCTN2 deficiency due to low carnitine level in infant’s NBS

Exclusion criteria

Exclusion criteria: No eligible subjects will be excluded from this study

Design outcomes

Primary

Measure	Time frame
- Clinical data; Medical history, perinatal data, family history, education and occupation, diet, current clinical state, physical examination. - Biochemical data; Laboratory assays performed in the context of (diagnosing) OCTN2 deficiency, eg acylcarinitine profile, OCTN2 transporter activity, gene analysis, glucose level, CK level. - Additional tests; All additional tests performed in the context of evaluation of OCTN2 deficiency, eg electrocardiogram, cardiac ultrasound, imaging.	—

Measure

Time frame

- Clinical data; Medical history, perinatal data, family history, education and occupation, diet, current clinical state, physical examination. - Biochemical data; Laboratory assays performed in the context of (diagnosing) OCTN2 deficiency, eg acylcarinitine profile, OCTN2 transporter activity, gene analysis, glucose level, CK level. - Additional tests; All additional tests performed in the context of evaluation of OCTN2 deficiency, eg electrocardiogram, cardiac ultrasound, imaging.

—

Secondary

Measure	Time frame
Sensitivity, specificity, positive predictive value and negative predictive value of novel functional assay, measuring OCTN2 transporter activity in cultured skin fibroblasts and lymphocytes.	—

Contacts

Public ContactLoek Crefcoeur

University Medical Centre Utrecht

l.l.crefcoeur@umcutrecht.nl0610152948

Outcome results