Primary Ciliary DyskinesiaPCDNCT05889013
Utility of PCD Diagnostics to Improve Clinical Care
An observational study of Primary Ciliary Dyskinesia, run by Connecticut Children's Medical Center at 1 site in United States.
Trial summary
This cross-sectional and longitudinal observational study is to gather data on the utility of tests that are used to make a diagnosis of primary ciliary dyskinesia (PCD). There is new testing available, called nasal nitric oxide testing, that non-invasively measures nitric oxide levels in the sinus cavity. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Primary Ciliary Dyskinesia
- What is being tested?
- Nasal Nitric Oxide testing
- Type of treatment
- Medical device
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 17 Oct 2023to Dec 2028
- How long will I take part?
- 3 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The target population are ages 2 and up. Participant selection will be on a referral basis for the consideration of a clinical suspicion for PCD. Participants will be identified by pulmonary providers that consider testing for PCD based on the clinical symptoms of the participant. These providers will thenrefer for enrollment in the study based on the clinical considerations for a diagnosis of PCD.
Who may be able to join
- Age ≥ 2 years of age
- Must have two of the following clinical history points:
- Neonatal respiratory distress
- Chronic nasal congestion/runny nose
- Chronic cough
- Situs/laterality defects
- Bronchiectasis
- Ability to provide informed consent or consent of parent/guardian and ass
Who cannot join
- Recent history of sinus surgery or bloody nose in the past week
- Age < 2 years of age
- Inability to tolerate probe in nose
- Sinusitis or other respiratory exacerbation currently being treated with antibiotics
- Admitted to hospital for respiratory exacerbation (inpatient status)
- Inability to understand the requirements of the study or be unwilling to provide written informed consent (as evidenced by signature on an informed consent document approved by the IRB)
- Any other reason for which the study investigators feel the patient is not a good candidate to complete the testing
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Pulmonary Division
Hartford, Connecticut, 06111
Melanie S Collins, MD, 8605459440, mcollin@connecticutchildrens.org
Sigrid M Almeida, BS, 8608375343, salmeida@connecticutchildrens.org
About this study
Official title: A Clinical Study to Gather Data on the Utility of Tests That Are Used to Make a Diagnosis of Primary Ciliary Dyskinesia (PCD)
This cross-sectional and longitudinal observational study is to gather data on the utility of tests that are used to make a diagnosis of primary ciliary dyskinesia (PCD). There is new testing available, called nasal nitric oxide testing, that non-invasively measures nitric oxide levels in the sinus cavity. Individuals with PCD characteristically have low levels, but this testing does not have extensive data from everyday clinical practice. The objective of this proposal is to improve the diagnostic approach to children and adults with clinical concerns for primary ciliary dyskinesia (PCD).
Read the detailed description
This is an observational study to gather data on the utility of tests that are used to make a diagnosis of primary ciliary dyskinesia (PCD). Participant selection will be on a referral basis for the consideration of a clinical suspicion for PCD. Participants will be identified by pulmonary providers that consider testing for PCD based on the clinical symptoms of the participant. These providers will then refer for enrollment in the study based on the clinical considerations for a diagnosis of PCD. Participants will be consented during the time of testing at the Pulmonary department. Any patient referred by a clinician for concerns for PCD, including those who have had PCD genetics sent, or a ciliary biopsy performed will be enrolled in the study. In addition, any participant who is referred for nasal nitric oxide testing and meets the inclusion and exclusion criteria for this testing, will also need to provide informed consent and be enrolled in the Nasal NO REDCap registry. This equipment is not currently FDA approved or CLIA certified for PCD diagnostic testing and therefore referring clinicians will be informed that the results of this test should not influence clinical decision making regarding the diagnosis of PCD. However, there is growing evidence that this testing has utility as a non-invasive screening tool for PCD and continued data from the general pediatric pulmonary population is needed.
- Conditions
- Primary Ciliary Dyskinesia
- Being tested
- Nasal Nitric Oxide testing
- Keywords
- PCD, nasal nitric oxide testing
- Medical subject headings
- Ciliary Motility Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Nasal Nitric Oxide testingDevice
Also called nNO testing
Collection of already performed clinical data and nNO testing
| Study group | Role | What they receive |
|---|---|---|
| Nasal Nitric Oxide | Participants who are referred by his/her clinician for nasal NO testing and meet the inclusion and exclusion criteria will undergo testing. Clinical information regarding prior diagnostic testing will be collected at time of enrollment. Participants that have a confirmed diagnosis of PCD by genetics or ciliary biopsy at time of study entry Receives: Device: Nasal Nitric Oxide testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Creation of Nasal NO REDCap registry
To establish a research registry to characterize the features of individuals that undergo PCD diagnostic testing at Connecticut Children's Medical Center and UCONN.
Measured: 2-3 years
Evaluation of utility of PCD diagnostic testing
To evaluate the utility of PCD diagnostic testing, including potential use of nasal nitric oxide in comparison to genetic testing and ciliary biopsy, in pulmonary practice at Connecticut Children's Medical Center and UCONN.
Measured: 2-3 years
Secondary outcomes (1)
Refinement and Improvement of PCD Diagnostic Testing
To refine and improve current diagnostic processes for PCD diagnosis at CCMC using information gathered from the research registry established through Primary aims 1 and 2.
Measured: 1-2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jun 2023
- Study start17 Oct 2023
- Primary completionDec 2027 (estimated)
- Study completionDec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Primary Ciliary DyskinesiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 50 participants (estimated)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- Connecticut Children's Medical Center
- Sponsor type
- University, hospital or other
- Collaborators
- UConn Health
- Responsible party
- Sponsor
- Investigators
- Melanie S Collins, MD, Principal investigator, Connecticut Children's Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05889013
- Sponsor's protocol ID
- 23-052-CCMC
- Acronym
- PCD
- Status last verified
- Sep 2026
- First submitted
- 25 May 2023
- Last updated
- 5 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- Yes
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Clinical Study to Gather Data on the Utility of Tests That Are Used to Make a Diagnosis of Primary Ciliary Dyskinesia (PCD)
- ClinicalTrials.gov ID
- NCT05889013
- Acronym / sponsor ID
- PCD / 23-052-CCMC
- Conditions
- Primary Ciliary Dyskinesia
- Keywords
- PCD, nasal nitric oxide testing
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Connecticut Children's Medical CenterUniversity, hospital or other
- Collaborators
- UConn Health
- Study start
- 17 Oct 2023 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Dec 2028 (estimated)
- First posted
- 5 Jun 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This cross-sectional and longitudinal observational study is to gather data on the utility of tests that are used to make a diagnosis of primary ciliary dyskinesia (PCD). There is new testing available, called nasal nitric oxide testing, that non-invasively measures nitric oxide levels in the sinus cavity. Individuals with PCD characteristically have low levels, but this testing does not have extensive data from everyday clinical practice. The objective of this proposal is to improve the diagnostic approach to children and adults with clinical concerns for primary ciliary dyskinesia (PCD).
Detailed description
This is an observational study to gather data on the utility of tests that are used to make a diagnosis of primary ciliary dyskinesia (PCD). Participant selection will be on a referral basis for the consideration of a clinical suspicion for PCD. Participants will be identified by pulmonary providers that consider testing for PCD based on the clinical symptoms of the participant. These providers will then refer for enrollment in the study based on the clinical considerations for a diagnosis of PCD. Participants will be consented during the time of testing at the Pulmonary department. Any patient referred by a clinician for concerns for PCD, including those who have had PCD genetics sent, or a ciliary biopsy performed will be enrolled in the study. In addition, any participant who is referred for nasal nitric oxide testing and meets the inclusion and exclusion criteria for this testing, will also need to provide informed consent and be enrolled in the Nasal NO REDCap registry. This equipment is not currently FDA approved or CLIA certified for PCD diagnostic testing and therefore referring clinicians will be informed that the results of this test should not influence clinical decision making regarding the diagnosis of PCD. However, there is growing evidence that this testing has utility as a non-invasive screening tool for PCD and continued data from the general pediatric pulmonary population is needed.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Target follow-up
- 3 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Nasal Nitric Oxide | – | Device: Nasal Nitric Oxide testingParticipants who are referred by his/her clinician for nasal NO testing and meet the inclusion and exclusion criteria will undergo testing. Clinical information regarding prior diagnostic testing will be collected at time of enrollment. Participants that have a confirmed diagnosis of PCD by genetics or ciliary biopsy at time of study entry |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The target population are ages 2 and up. Participant selection will be on a referral basis for the consideration of a clinical suspicion for PCD. Participants will be identified by pulmonary providers that consider testing for PCD based on the clinical symptoms of the participant. These providers will thenrefer for enrollment in the study based on the clinical considerations for a diagnosis of PCD.
Key inclusion criteria (8 listed)
- Age ≥ 2 years of age
- Must have two of the following clinical history points:
- Neonatal respiratory distress
- Chronic nasal congestion/runny nose
- Chronic cough
Key exclusion criteria (7 listed)
- Recent history of sinus surgery or bloody nose in the past week
- Age < 2 years of age
- Inability to tolerate probe in nose
- Sinusitis or other respiratory exacerbation currently being treated with antibiotics
- Admitted to hospital for respiratory exacerbation (inpatient status)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Nasal Nitric Oxide testingAlso: nNO testingCollection of already performed clinical data and nNO testing | Device | Nasal Nitric Oxide |
Primary outcome
Creation of Nasal NO REDCap registry
Time frame: 2-3 years
To establish a research registry to characterize the features of individuals that undergo PCD diagnostic testing at Connecticut Children's Medical Center and UCONN.
Evaluation of utility of PCD diagnostic testing
Time frame: 2-3 years
To evaluate the utility of PCD diagnostic testing, including potential use of nasal nitric oxide in comparison to genetic testing and ciliary biopsy, in pulmonary practice at Connecticut Children's Medical Center and UCONN.
1 secondary outcome
Refinement and Improvement of PCD Diagnostic Testing
Time frame: 1-2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Oct 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Melanie S Collins, MD principal investigator
Connecticut Children's Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Ciliary Dyskinesia, run by Connecticut Children's Medical Center at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Melanie S Collins, MD (860-545-9440, mcollin@connecticutchildrens.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Creation of Nasal NO REDCap registry (time frame: 2-3 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Oct 2026.