Long Term Follow up of a Cohort of Children With TCF2 Mutation:Evolution of Endocrine and Renal Function

NCT ID: NCT00760331

Last Updated: 2018-08-13

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Total Enrollment: 100 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2008-06-30
• Study Completion Date: 2033-12-31

Brief Summary

Anomalies of renal development are well know for patients treated for MODY-5 diabetes due to TCF2 mutation.A recent study confirms the existence of pediatric patients having TCF2 mutation but presenting renal anomalies alone.Endocrine and renal evolution of these patients is unknown.The aim of this study is to follow a cohort of patients with TCF2 mutation and initially presenting renal anomalies alone.

Detailed Description

Biologic analysis and renal ultrasonography once a year.

After puberty or before kidney transplantation

• Abdominal and pelvic MRI
• Intravenous Glucose Tolerance Test

Conditions

Hepatocyte Nuclear Factor 1-beta

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

Inclusion Criteria

• Patients presenting an anomaly of renal development due to TCF2 mutation
• Age<18 years old

Exclusion Criteria

• Anomaly of renal development without TCF2 mutation
• Age≥18 years old
• Parents or patients refusing to participate to the study

• Maximum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University Hospital, Limoges

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Vincent GUIGONIS, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Limoges

Locations

CHU de Limoges

Limoges, , France

Countries

France

Other Identifiers

I06026

Identifier Type: -

Identifier Source: org_study_id