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

NCT06172374 | Active Not Recruiting

• 1 other identifier: thinkPCD
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Primary Ciliary Dyskinesia

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• Proportion of PCD individuals with DNAI1 mutations and number of patients with mutations in other PCD genes of interest

  2 years

• Number of Health Care Provider (HCP) and their referred individuals eligible for genetic testing for PCD

  2 years

Study Arms (3)

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

Interventions

Sano Genetics Testing Kit GENETIC

Genetic testing spit collection tubes for DNA testing

Individuals negative for a gene causing PCD; PCD Individuals confirmed positive for DNAI1; PCD Individuals confirmed positive for other genotypes of interest

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants with pathogenic mutation of genes known to cause PCD

You may qualify if:

• 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)

Sponsors & Collaborators

• ReCode Therapeutics: lead
• Sano Genetics: collaborator
• Reverba: collaborator

Study Sites (1)

ReCode Therapeutics, Inc.

Menlo Park, California, 94025, United States

Location

MeSH Terms

Conditions

Ciliary Motility Disorders

Condition Hierarchy (Ancestors)

Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• John G. Matthews, MBBS, MRCP, PhD

  ReCode Therapeutics, Inc.

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 7, 2023
• First Posted: December 15, 2023
• Study Start: August 31, 2023
• Primary Completion: April 30, 2025
• Study Completion: December 1, 2025
• Last Updated: May 11, 2025

Record last verified: 2025-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)