PCD New Gene Discovery

NCT03801395 | Completed

• 1 other identifier: 182074
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

This is a new gene discovery program for individuals with PCD who do not have a specific genetic etiology identified. Research procedures involve a single blood draw from the affected individual and from unaffected family members in an effort to identify new genetic targets.

Conditions

Primary Ciliary Dyskinesia

Outcome Measures

Primary Outcomes (1)

• DNA analysis

  Blood will be obtained for DNA analysis and identification of new PCD genes. Genetic analysis will be done by whole exome sequencing

  6 months

Interventions

There is no intervention OTHER

No intervention

Eligibility Criteria

• Age: 0 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with confirmed or suspected PCD and their unaffected family members

You may qualify if:

• Age 0-90 years
• Confirmed diagnosis of PCD by either ciliary ultrastructure abnormality or two known disease-causing alleles in a known PCD gene OR individuals with clinical suspicion of PCD without a confirmatory test (genetics or ciliary biopsy) as defined by: low nasal nitric oxide testing (\<77nl/min) on two separate occasions at least two months apart or compatible clinical phenotype, but unable to do nasal nitric oxide testing secondary to age or other factors OR relative of one of the previously defined individuals with PCD
• Ability to provide informed consent or consent of parent/guardian and assent for minors

You may not qualify if:

• Inability to understand the requirements of the study or be unwilling to provide written informed consent (as evidenced by signature on an informed consent document approved by the IRB) OR inability of parent/guardian to understand the requirements of the study

Sponsors & Collaborators

• Vanderbilt University Medical Center: lead

Study Sites (1)

Vanderbilt Children's hospital

Nashville, Tennessee, 37232, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples will be obtained for DNA analysis

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 Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: January 9, 2019
• First Posted: January 11, 2019
• Study Start: January 7, 2019
• Primary Completion: July 1, 2020
• Study Completion: November 20, 2024
• Last Updated: November 25, 2024

Record last verified: 2024-11

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)