Clinical Care Consortium of Telomere-Associated Ailments (CCCTAA) Database

Dyskeratosis Congenita Clinical Trial

Official title:

Clinical Care Consortium of Telomere-Associated Ailments (CCCTAA) Database

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05436431
• Other study ID #: 10000822
• Secondary ID: 000822-C
• Status: Recruiting
• Start date: July 17, 2022
• Est. completion date: December 31, 2037

Study information

• Verified date: June 23, 2022
• Source: National Institutes of Health Clinical Center (CC)
• Contact: Cecilia P Higgs
• Phone: (240) 276-7627
• Email: cecilia.higgs[@]nih.gov
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

Study Description:

This protocol will be utilized for the creation and management of a repository of coded clinical data on patients with Telomere Biology Disorders (TBDs) submitted by researchers from CCCTAA member institutions.

Objective:

The primary objective of this study is to develop a shared database (repository) of coded clinical research data, managed by NCI, to facilitate collaborative research across CCCTAA member institutions.

Description:

Study Description:

This protocol will be utilized for the creation and management of a repository of coded clinical data on patients with Telomere Biology Disorders (TBDs) submitted by researchers from CCCTAA member institutions.

Objective:

The primary objective of this study is to develop a shared database (repository) of coded clinical research data, managed by NCI, to facilitate collaborative research across CCCTAA member institutions.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 10000
• Est. completion date: December 31, 2037
• Est. primary completion date: December 31, 2037
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

• INCLUSION CRITERIA:

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

• Diagnosed or being evaluated for a Telomere Biology Disorder (TBD) at a CCCTAA member institution.

• Male or female, from 0 to 100 years.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

-Individuals who do not meet eligibility criteria. No other exclusionary criteria apply.

Related Conditions & MeSH terms

• Bone Marrow Failure Disorders
• Congenital Bone Marrow Failure Syndromes
• Dyskeratosis Congenita
• Inherited Bone Marrow Failure Syndrome
• Pancytopenia

Locations

Country	Name	City	State
United States	NIH National Cancer Institute - Shady Grove	Rockville	Maryland

Sponsors (1)

Lead Sponsor	Collaborator
National Cancer Institute (NCI)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genotype-phenotype relationships	Quantify genotype-phenotype relationships between pathogenic germline variants and clinical manifestations.	ongoing
Primary	Prevalence of Telomere Biology Disorders (TBDs)	Determine the prevalence of TBDs at CCCTAA member institutions.	ongoing
Primary	Phenotypic spectrum of TBDs	Define the phenotypic spectrum of TBDs by quantifying the prevalence of bone marrow failure, cancer, pulmonary disease, gastrointestinal disease, mucocutaneous features, bony abnormalities, and other known TBD complications.	ongoing