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CFAP46-related primary ciliary dyskinesia

MONDO:1010146

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP46 gene.

Also known as: CFAP46-related primary ciliary dyskinesia

7 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Respiratory system disorder (127) Primary ciliary dyskinesia (30) Syndromic disease (24) Human disease (14) Ciliopathy (2) Disease by molecular mechanism (2) Disease of genetic or genomic mechanism (2) Disease by body system or component (0)

Trials to join now! 2 Not yet recruiting 2 Not yet finished but already full! 1 Completed 2

New breath test could replace painful lung scopes

Knowledge-focused ENROLLING_BY_INVITATION

This study aims to see if a simple, non-invasive breathing test can accurately measure the acidity (pH) in the airways, which is often abnormal in lung diseases. Researchers will compare results from this breath test with standard methods in 150 healthy volunteers and people with…

Phase: PHASE2 • Sponsor: Indiana University • Aim: Knowledge-focused

Last updated Jun 27, 2026 08:03 UTC