Genetic sequencing study in Primary Ciliary Dyskinesia.

Genetic sequencing study in Primary Ciliary Dyskinesia. - Genetic sequencing study in Primairy Ciliary Dyskinesia.

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON37743

Enrollment

Registered

2012-04-05

Start date

2013-01-15

Completion date

Unknown

Last updated

2024-04-29

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

Conditions

immotile cilia syndrome Primary Cliliary Dyskinesia

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: Primary Ciliary Dyskinesia

Exclusion criteria

Exclusion criteria: Other recessive hereditary diseases, known Volendam PCD mutation

Design outcomes

Primary

Measure	Time frame
Main study endpoints: I Pathogenic mutations found in novel genes: gene, type, number II Pathogenic mutations found in selected known genes: gene, type, number. III Diagnostic test, based on a set of PCD genes IV Accuracy of the MPS technique after validation. Sensitivity and specificity for identifying known mutations.	—

Secondary

Measure	Time frame
None	—

Countries

Netherlands

Outcome results