Research to reveal disease mechanisms and to find therapies for hereditary connective tissue disorders

Not Applicable

Recruiting

• Conditions: Hereditary connective tissue disorders; Ehlers-Danlos syndrome; Marfan syndrome; Loeys-Dietz syndrome; Osteogenesis Imperfecta; D003240

• Registration Number: JPRN-jRCT1030230625
• Lead Sponsor: Tomoki Kosho

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2024-02-08
• Last Update Posted: 27 May 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 400

Inclusion Criteria

Patients who have or who are suspected to have hereditary connective tissue disorders

Exclusion Criteria

none

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Elucidation of pathomechanisms including causative gene variants

Secondary Outcome Measures

Name	Time	Method
Validation of clinical characteristics of patients found to have causative gene variants and development of ethiology-based therapies