Status:

RECRUITING

Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases

Lead Sponsor:

Centre Hospitalier Universitaire Dijon

Conditions:

Rare Diseases

Eligibility:

All Genders

Brief Summary

Most diagnostically unsolved rare disease have a genetic cause. These causes have not been found applying the current methodologies due to technical limitations (e.g. repeat expansions, changes in non...

Eligibility Criteria

Inclusion

  • Persons or legal guardian who have given their written informed consent
  • Unclear molecular cause of the disease corresponding to the list of diseases selected by the Solve-RD data interpretation force (principal investigator part of the team)
  • Suspected genetic cause of the disease with negative exome reanalysis
  • Healthy parents available for trio analysis

Exclusion

  • Person not affiliated to a national health insurance scheme

Key Trial Info

Start Date :

November 14 2019

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

May 1 2026

Estimated Enrollment :

50 Patients enrolled

Trial Details

Trial ID

NCT04024774

Start Date

November 14 2019

End Date

May 1 2026

Last Update

April 2 2025

Active Locations (1)

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Page 1 of 1 (1 locations)

1

CHU de Dijon

Dijon, France, 21079

Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases | DecenTrialz