Evaluation of genetic, enzymatic, biochemical and clinical characteristics of OCTN2/CPT2/CACT/BKT deficiency to determine if new born screening is useful and feasible

Recruiting

Conditions: Carnitine Uptake Disorder (CUD)
Primary Carnitine Deficiency
10021605

Registration Number: NL-OMON52401

Lead Sponsor: niversitair Medisch Centrum 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.
• CPT2 deficiency, confirmed by reduced Carnitine palmitoyltransferase II
activity in lymphocytes or cultured fibroblasts and/or biallelic mutations in
the CPT2 gene.
• CACT deficiency, confirmed by carnitine acylcarnitine translocase activity in
cultured fibroblasts and/or biallelic mutations in the SLC25A20 gene.
• BKT deficiency, confirmed by reduced 2-methylacetoacetyl-CoA thiolase
activity in cultured fibroblasts and/or biallelic mutations in the ACAT1 gene.

Exclusion Criteria

No exclusion criteria. All subjects that meet inclusion criteria are elligible
for inclusion

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The main study outcome is survey of OCTN2, CPT2, CACT or BKT deficiency in the<br /><br>Netherlands based on the following study parameters:<br /><br><br /><br>- Clinical data; Medical history, current clinical state, physical examination.<br /><br>- Biochemical data; Laboratory assays performed in the context of diagnosis, eg<br /><br>acylcarinitine profile, protein activity, gene analysis, glucose/ketone level,<br /><br>CK level.<br /><br>- Additional testing; All additional tests performed in the context of<br /><br>evaluation of the disorder, eg electrocardiogram, cardiac ultrasound, imaging.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Sensitivity, specificity, positive predictive value and negative predictive<br /><br>value of novel functional assay, measuring OCTN2 transporter activity in<br /><br>cultured skin fibroblasts and lymfocytes.</p><br>