Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
Status:
Recruiting
Trial end date:
2025-04-01
Target enrollment:
Participant gender:
Summary
The purpose of this study is to measure mucociliary clearance (MCC) in groups of subjects
with the disease Primary Ciliary Dyskinesia (PCD) caused by mutations in different genes.
Some of these genes are associated with a milder clinical phenotype. This study seeks to
determine if the milder phenotype is a result of mutations in a set of specific genes. The
hypothesis is that subjects with PCD caused by mutations in the milder group will maintain a
low, but significant rate of mucociliary clearance, while patients with mutations in genes in
the more severe group will have a complete absence of mucociliary clearance. These studies
will help inform future treatment strategies.