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
Not Applicable
Recruiting
- Conditions
- F83D81Mixed specific developmental disordersCombined immunodeficiencies
- Registration Number
- DRKS00023169
- Lead Sponsor
- niversitätsklinikum Köln
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 200
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
Study & Design
- Study Type
- interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Prospective inquiry of clinical data for deep/mechanistic phenotyping in an interventional study via Clinical Research Forms (CRFs) and participant questionnaires, to gain a full understanding of disease progression as groundwork for defining clinical endpoints
- Secondary Outcome Measures
Name Time Method Employment and analysis of Next-Generation-Sequencing to find pathogenic genetic variants with previously unreported disease phenotypes