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Clinical Trials/NL-OMON52401
NL-OMON52401
Recruiting
Not Applicable

Evaluation of genetic, enzymatic, biochemical and clinical characteristics of OCTN2/CPT2/CACT/BKT deficiency to determine if new born screening is useful and feasible - OCTN2/CPT2/CACT/BKT Deficiency Implementation in Newborn screening: ODI

niversitair Medisch Centrum Utrecht0 sites380 target enrollmentTBD
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ConditionsCarnitine Uptake Disorder (CUD)Primary Carnitine Deficiency10021605

Overview

Phase
Not Applicable
Intervention
Not specified
Conditions
Carnitine Uptake Disorder (CUD)
Sponsor
niversitair Medisch Centrum Utrecht
Enrollment
380
Status
Recruiting
Last Updated
last year
OverviewInvestigatorsEligibility CriteriaOutcomesSimilar Trials

Overview

Brief Summary

No summary available.

Registry
who.int
Start Date
TBD
End Date
TBD
Last Updated
last year
Study Type
Observational invasive

Investigators

Sponsor
niversitair Medisch Centrum Utrecht

Eligibility 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.
  • •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

Exclusion Criteria

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

Outcomes

Primary Outcomes

Not specified

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