Primary Ciliary DyskinesiaNCT06172374
A Study Providing Genetic Testing to Find Those Who May Have Primary Ciliary Dyskinesia for Potential Clinical Trials
An observational study of Primary Ciliary Dyskinesia, run by ReCode Therapeutics at 1 site in United States.
Trial summary
Primary purpose is to identify individuals who have PCD due to a genetic mutation within the DNAI1 and other genes of interest to help refer participants to future clinical studies for this rare disease. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Primary Ciliary Dyskinesia
- What is being tested?
- Sano Genetics Testing Kit
- How many people
- 150 participants
- Where
- 1 siteUnited States
- Study dates
- 31 Aug 2023to Dec 2025
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Participants with pathogenic mutation of genes known to cause PCD
Who may be able to join
- Participant must be at least 18 years old.
- Participant must have a prior diagnosis of PCD or be deemed eligible upon completion of the PCD-enrichment screening questionnaire.
- Participant must be under the care of an HCP for their PCD or symptoms potentially related to PCD.
- Participant must be able to read, write, and understand English, and reside in a country where the shipment of biological samples is allowed.
- Participant must be willing to be tested for genes involved in PCD.
- Participant must be willing to be notified of eligibility for clinical studies (if appropriate)
Who cannot join
- In ability to meet any of the inclusion criteria
Trial locations and contacts
1 site in 1 country.
United States1 site
ReCode Therapeutics, Inc.
Menlo Park, California, 94025
About this study
Official title: DNAI1 Primary Ciliary Dyskinesia: Genetic Testing, Patient Finding and Increasing Disease Awareness Program
Primary purpose is to identify individuals who have PCD due to a genetic mutation within the DNAI1 and other genes of interest to help refer participants to future clinical studies for this rare disease.
Read the detailed description
The aim of this study is to identify individuals with Primary ciliary dyskinesia (PCD) through a screening questionnaire that enriches for likely pathogenic gene mutations in DNAI1 and other genes of interest associated with PCD. Identified individuals will be referred to relevant upcoming clinical trials. This study will also obtain information on the proportion of individuals with PCD who have mutations in DNAI1, and other PCD genes of interest. Additional goals include increasing the awareness of patients and healthcare providers (HCPs) of the importance of genetic testing in PCD, and engaging their interest in future clinical studies.
PCD is a genetically heterogenous disease characterized by impaired ciliary movement in the lungs, paranasal sinuses, reproductive system, and Eustachian tubes. PCD can result in a range of clinical presentations, including pulmonary disease and respiratory tract infections, chronic sinus infections, and recurrent ear infections, among others. The estimated incidence of PCD is one in 10,000 people. Mutations in over 40 genes have been shown to cause PCD, with commonly implicated genes being DNAH5, DNAI1, and DNAH11.
There is currently a lack of effective diagnostic tools for PCD; an estimated 46,000 people with PCD remain undiagnosed in the United States. Genetic testing represents a potential method to diagnose PCD.
Individuals with a confirmed PCD diagnosis, or those strongly suspected to have PCD by HCPs, will complete an online informed consent form and a questionnaire to identify pathogenic mutations. Following consent, individuals will be sent no-cost genetic testing kits and guidance on collecting saliva samples. The saliva samples will be assessed by whole exome sequencing for a number of the genes implicated in PCD, including DNAI1. Individuals with identified DNAI1 mutations will be referred to the ReCode Therapeutics, Inc.'s RCT1100 Virtual Waiting Room and retained for potential future clinical trials through a continuing engagement scheme. Individuals with other PCD-causing mutations will also be retained for potential future clinical trials. Counselling will be available to all individuals in the study.
- Conditions
- Primary Ciliary Dyskinesia
- Being tested
- Sano Genetics Testing Kit
- 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.
Sano Genetics Testing KitGenetic
Genetic testing spit collection tubes for DNA testing
| Study group | Role | What they receive |
|---|---|---|
| PCD Individuals confirmed positive for DNAI1 | Not described Receives: Genetic: Sano Genetics Testing Kit | |
| PCD Individuals confirmed positive for other genotypes of interest | Not described Receives: Genetic: Sano Genetics Testing Kit | |
| Individuals negative for a gene causing PCD | Not described Receives: Genetic: Sano Genetics Testing Kit |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of PCD individuals with DNAI1 mutation identified through genetic testing
Number of individuals with DNAI1 will be measured by tracking amount of completed questionnaires eligible for genetic testing resulting with DNAI1 gene mutation
Measured: 2 years
Secondary outcomes (2)
Proportion of PCD individuals with DNAI1 mutations and number of patients with mutations in other PCD genes of interest
Number of identified genotypes, including DNAI1, will be confirmed by analyzed saliva samples submitted from eligible individuals
Measured: 2 years
Number of Health Care Provider (HCP) and their referred individuals eligible for genetic testing for PCD
Number of HCP and potential patients will be measured by number of questionnaires confirming eligibility for genetic testing for PCD
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Dec 2023
- Study start31 Aug 2023
- Primary completion30 Apr 2025
- Study completionDec 2025 (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
- Other
- Time perspective
- Other
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- ReCode Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Sano Genetics, Reverba
- Responsible party
- Sponsor
- Investigators
- John G. Matthews, MBBS, MRCP, PhD, Study chair, ReCode Therapeutics, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06172374
- Sponsor's protocol ID
- thinkPCD
- Status last verified
- May 2025
- First submitted
- 7 Dec 2023
- Last updated
- 11 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- DNAI1 Primary Ciliary Dyskinesia: Genetic Testing, Patient Finding and Increasing Disease Awareness Program
- ClinicalTrials.gov ID
- NCT06172374
- Acronym / sponsor ID
- thinkPCD
- Conditions
- Primary Ciliary Dyskinesia
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- ReCode TherapeuticsIndustry (pharma, biotech, devices)
- Collaborators
- Sano Genetics, Reverba
- Study start
- 31 Aug 2023 (actual)
- Primary completion
- 30 Apr 2025 (actual)
- Study completion
- Dec 2025 (estimated)
- First posted
- 15 Dec 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.
Primary purpose is to identify individuals who have PCD due to a genetic mutation within the DNAI1 and other genes of interest to help refer participants to future clinical studies for this rare disease.
Detailed description
The aim of this study is to identify individuals with Primary ciliary dyskinesia (PCD) through a screening questionnaire that enriches for likely pathogenic gene mutations in DNAI1 and other genes of interest associated with PCD. Identified individuals will be referred to relevant upcoming clinical trials. This study will also obtain information on the proportion of individuals with PCD who have mutations in DNAI1, and other PCD genes of interest. Additional goals include increasing the awareness of patients and healthcare providers (HCPs) of the importance of genetic testing in PCD, and engaging their interest in future clinical studies.
PCD is a genetically heterogenous disease characterized by impaired ciliary movement in the lungs, paranasal sinuses, reproductive system, and Eustachian tubes. PCD can result in a range of clinical presentations, including pulmonary disease and respiratory tract infections, chronic sinus infections, and recurrent ear infections, among others. The estimated incidence of PCD is one in 10,000 people. Mutations in over 40 genes have been shown to cause PCD, with commonly implicated genes being DNAH5, DNAI1, and DNAH11.
There is currently a lack of effective diagnostic tools for PCD; an estimated 46,000 people with PCD remain undiagnosed in the United States. Genetic testing represents a potential method to diagnose PCD.
Individuals with a confirmed PCD diagnosis, or those strongly suspected to have PCD by HCPs, will complete an online informed consent form and a questionnaire to identify pathogenic mutations. Following consent, individuals will be sent no-cost genetic testing kits and guidance on collecting saliva samples. The saliva samples will be assessed by whole exome sequencing for a number of the genes implicated in PCD, including DNAI1. Individuals with identified DNAI1 mutations will be referred to the ReCode Therapeutics, Inc.'s RCT1100 Virtual Waiting Room and retained for potential future clinical trials through a continuing engagement scheme. Individuals with other PCD-causing mutations will also be retained for potential future clinical trials. Counselling will be available to all individuals in the study.
Study design
- Observational model
- Other
- Time perspective
- Other
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| PCD Individuals confirmed positive for DNAI1 | – | Genetic: Sano Genetics Testing Kit |
| PCD Individuals confirmed positive for other genotypes of interest | – | Genetic: Sano Genetics Testing Kit |
| Individuals negative for a gene causing PCD | – | Genetic: Sano Genetics Testing Kit |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Participants with pathogenic mutation of genes known to cause PCD
Key inclusion criteria (6 listed)
- Participant must be at least 18 years old.
- Participant must have a prior diagnosis of PCD or be deemed eligible upon completion of the PCD-enrichment screening questionnaire.
- Participant must be under the care of an HCP for their PCD or symptoms potentially related to PCD.
- Participant must be able to read, write, and understand English, and reside in a country where the shipment of biological samples is allowed.
- Participant must be willing to be tested for genes involved in PCD.
Key exclusion criteria (1 listed)
- In ability to meet any of the inclusion criteria
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 |
|---|---|---|
| Sano Genetics Testing KitGenetic testing spit collection tubes for DNA testing | Genetic | Individuals negative for a gene causing PCD, PCD Individuals confirmed positive for DNAI1, PCD Individuals confirmed positive for other genotypes of interest |
Primary outcome
Number of PCD individuals with DNAI1 mutation identified through genetic testing
Time frame: 2 years
Number of individuals with DNAI1 will be measured by tracking amount of completed questionnaires eligible for genetic testing resulting with DNAI1 gene mutation
2 secondary outcomes
Proportion of PCD individuals with DNAI1 mutations and number of patients with mutations in other PCD genes of interest
Time frame: 2 years
Number of Health Care Provider (HCP) and their referred individuals eligible for genetic testing for PCD
Time frame: 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 11 May 2025.
- 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. This study is not recruiting at the moment.
John G. Matthews, MBBS, MRCP, PhD study chair
ReCode Therapeutics, Inc.
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 ReCode Therapeutics 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 6 inclusion and 1 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: under way, not looking for participants, as of the sponsor's last update on 11 May 2025. 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of PCD individuals with DNAI1 mutation identified through genetic testing (time frame: 2 years). 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 11 May 2025.