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Clinical Trials/NL-OMON26974
NL-OMON26974
Recruiting
Not Applicable

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

MC Utrecht0 sites380 target enrollmentTBD
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Overview

Phase
Not Applicable
Intervention
Not specified
Conditions
Not specified
Sponsor
MC Utrecht
Enrollment
380
Status
Recruiting
Last Updated
2 years ago
OverviewInvestigatorsEligibility CriteriaOutcomesSimilar Trials

Overview

Brief Summary

No summary available.

Registry
who.int
Start Date
TBD
End Date
TBD
Last Updated
2 years ago
Study Type
Observational non invasive

Investigators

Sponsor
MC 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

Exclusion Criteria

  • •No eligible subjects will be excluded from this study

Outcomes

Primary Outcomes

Not specified

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