OCTN2 Deficiency Implementation in Newborn screening
Recruiting
- Conditions
- OCTN2 deficiency
- Registration Number
- NL-OMON26974
- Lead Sponsor
- MC Utrecht
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 380
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
No eligible subjects will be excluded from this study
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method - Clinical data; Medical history, perinatal data, family history, education and occupation, diet, current clinical state, physical examination.<br>- Biochemical data; Laboratory assays performed in the context of (diagnosing) OCTN2 deficiency, eg acylcarinitine profile, OCTN2 transporter activity, gene analysis, glucose level, CK level.<br>- Additional tests; All additional tests performed in the context of evaluation of OCTN2 deficiency, eg electrocardiogram, cardiac ultrasound, imaging.
- Secondary Outcome Measures
Name Time Method Sensitivity, specificity, positive predictive value and negative predictive value of novel functional assay, measuring OCTN2 transporter activity in cultured skin fibroblasts and lymphocytes.