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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

150 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-08-31

Study Completion Date

2025-12-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Genetics of Primary Ciliary Dyskinesia

NCT02389049

Primary Ciliary Dyskinesia Kartagener Syndrome

COMPLETED

Genetic Study of Patients With Primary Ciliary Dyskinesia

NCT00005650

Primary Ciliary Dyskinesia

COMPLETED

Screening for Genes in Patients With Poikiloderma

NCT02862834

Poikiloderma

COMPLETED

GNAO1 Natural History Study

NCT04950946

GNAO1

UNKNOWN

Phenotype/Genotype Correlations in Neuromuscular Disorders

NCT00017745

Neuromuscular Disease

COMPLETED

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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

See the medical conditions and disease areas that this research is targeting or investigating.

Primary Ciliary Dyskinesia

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

OTHER

Study Time Perspective

OTHER

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

PCD Individuals confirmed positive for DNAI1

Sano Genetics Testing Kit

Intervention Type GENETIC

Genetic testing spit collection tubes for DNA testing

PCD Individuals confirmed positive for other genotypes of interest

Sano Genetics Testing Kit

Intervention Type GENETIC

Genetic testing spit collection tubes for DNA testing

Individuals negative for a gene causing PCD

Sano Genetics Testing Kit

Intervention Type GENETIC

Genetic testing spit collection tubes for DNA testing

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Sano Genetics Testing Kit

Genetic testing spit collection tubes for DNA testing

Intervention Type GENETIC

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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)

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No