Identification of new genetic defects in telomeropathies

Recruiting

• Conditions: telomere diseases; Telomeropathies; 10018849; 10038686

• Registration Number: NL-OMON48269
• Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 15 April 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 50

Inclusion Criteria

Patients are diagnosed with interstitial pulmonary disease and/or a
hematological disorder and must have a positive family history (meaning at
least 1 relative with an interstitial pulmonary disease or hematological
disorder)
or
Patients are diagnosed with interstitial pulmonary disease and a hematological
disorder without a positive family history, Affected family members must be
diagnosed with an interstitial pulmonary disease and/or a hematological
disorder, Non-affected relatives and spouses will be included in the control
group

Exclusion Criteria

Patients with severe physical or life threatening conditions

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Identification of new genetic defects associated with telomeropathies.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>A study database and biobank for future research.</p><br>