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

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.

Study Overview

• Status: Recruiting
• Conditions: Primary Ciliary Dyskinesia
• Intervention / Treatment: Genetic: Sano Genetics Testing Kit

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 Type: Observational
• Enrollment (Estimated): 150

Contacts and Locations

• Study Contact: Name: Priya Ryali; Phone Number: 888-778-1758; Email: clinicaltrials@recodetx.com

Study Locations

• United States
  • California
    • Menlo Park, California, United States, 94025
      • Recruiting
      • ReCode Therapeutics, Inc.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Participants with pathogenic mutation of genes known to cause PCD

Description

Inclusion Criteria:

1. Participant must be at least 18 years old.
2. Participant must have a prior diagnosis of PCD or be deemed eligible upon completion of the PCD-enrichment screening questionnaire.
3. Participant must be under the care of an HCP for their PCD or symptoms potentially related to PCD.
4. Participant must be able to read, write, and understand English, and reside in a country where the shipment of biological samples is allowed.
5. Participant must be willing to be tested for genes involved in PCD.
6. 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

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
PCD Individuals confirmed positive for DNAI1	Genetic: Sano Genetics Testing Kit; Genetic testing spit collection tubes for DNA testing
PCD Individuals confirmed positive for other genotypes of interest	Genetic: Sano Genetics Testing Kit; Genetic testing spit collection tubes for DNA testing
Individuals negative for a gene causing PCD	Genetic: Sano Genetics Testing Kit; Genetic testing spit collection tubes for DNA testing

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: ReCode Therapeutics
• Collaborators: Sano Genetics; Reverba
• Investigators: Study Chair: John G. Matthews, MBBS, MRCP, PhD, ReCode Therapeutics, Inc.

Study record dates

Study Major Dates

• Study Start (Actual): August 31, 2023
• Primary Completion (Estimated): October 1, 2025
• Study Completion (Estimated): December 1, 2025

Study Registration Dates

• First Submitted: December 7, 2023
• First Submitted That Met QC Criteria: December 7, 2023
• First Posted (Actual): December 15, 2023

Study Record Updates

• Last Update Posted (Actual): December 21, 2023
• Last Update Submitted That Met QC Criteria: December 20, 2023
• Last Verified: December 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Respiratory Tract Diseases; Neurologic Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Otorhinolaryngologic Diseases; Movement Disorders; Abnormalities, Multiple; Ciliopathies; Dyskinesias; Ciliary Motility Disorders
• Other Study ID Numbers: thinkPCD

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No