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Clinical Trials/DRKS00023169
DRKS00023169
Recruiting
未知

Deep phenotyping and functional characterization of autophagy- and proteostasis-associated candidate genes for congenital disorders of immunity and neurodevelopment in the age of next generation sequencing - caprica

niversitätsklinikum Köln0 sites200 target enrollmentJune 11, 2021
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ConditionsF83D81Mixed specific developmental disordersCombined immunodeficiencies

Overview

Phase
未知
Intervention
Not specified
Conditions
F83
Sponsor
niversitätsklinikum Köln
Enrollment
200
Status
Recruiting
Last Updated
last year
OverviewInvestigatorsEligibility CriteriaOutcomesSimilar Trials

Overview

Brief Summary

No summary available.

Registry
who.int
Start Date
June 11, 2021
End Date
TBD
Last Updated
last year
Study Type
Interventional
Sex
All

Investigators

Sponsor
niversitätsklinikum Köln

Eligibility Criteria

Inclusion Criteria

  • •a) informed consent of parents and/or patient
  • •b) patients with a delay in neurological development, or with a suspicion thereof, based on clinical, morphological, biochemical or moleculargenetic evidence,
  • •c) patients with an immunodeficiency, or with a suspicion thereof, based on clinical, morphological, biochemical or moleculargenetic evidence,
  • •d) asymptomatic probands/mutation carriers, related to a patient with a secured or suspected delay of neurological development and/or immunodeficiency

Exclusion Criteria

  • •a) when none of the inclusion criteria meet

Outcomes

Primary Outcomes

Not specified

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