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

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

Status

Recruiting

Phases

Unknown

Study type

Interventional

Source

DRKS

Registry ID

DRKS00023169

Enrollment

200

Registered

2021-06-11

Start date

2021-06-10

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

F83 D81

Interventions

Group 1: Diagnostic procedures: Drawing more body fluids (e.g., blood, urine, cerebrospinal fluid, bone marrow), using already performed biopsies (skin, nerve, muscle)

Eligibility

Sex/Gender

All

Inclusion 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

Exclusion criteria: a) when none of the inclusion criteria meet

Design outcomes

Primary

Measure	Time frame
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

Measure	Time frame
Employment and analysis of Next-Generation-Sequencing to find pathogenic genetic variants with previously unreported disease phenotypes	—

Countries

Germany

Contacts

Public ContactHormos Salimi Dafsari

Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Köln

hormos.dafsari@uk-koeln.de022147839969

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026