A Study Providing Genetic Testing to Find Those Who May Have Primary Ciliary Dyskinesia for Potential Clinical Trials

Study Overview
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Brief Summary
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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
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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.

Official Title
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DNAI1 Primary Ciliary Dyskinesia: Genetic Testing, Patient Finding and Increasing Disease Awareness Program

Conditions
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Primary Ciliary Dyskinesia

Intervention / Treatment
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* Genetic: Sano Genetics Testing Kit


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 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) Exclusion Criteria: In ability to meet any of the inclusion criteria

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| PCD Individuals confirmed positive for DNAI1<br> | Genetic: Sano Genetics Testing Kit<br>* Genetic testing spit collection tubes for DNA testing<br>|
| PCD Individuals confirmed positive for other genotypes of interest<br> | Genetic: Sano Genetics Testing Kit<br>* Genetic testing spit collection tubes for DNA testing<br>|
| Individuals negative for a gene causing PCD<br> | Genetic: Sano Genetics Testing Kit<br>* Genetic testing spit collection tubes for DNA testing<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | 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 | 2 years |