Status:
RECRUITING
Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cell From Subjects With ROSAH Syndrome
Lead Sponsor:
Hospices Civils de Lyon
Conditions:
Unrecognized Condition
Eligibility:
All Genders
18+ years
Brief Summary
Alpha-1 kinase (ALPK1) has been reported as a potential causative gene for ROSAH Syndrome. Genetic variants including T237M have been found in ROSAH Syndrome patients. Our in-house study has found th...
Eligibility Criteria
Inclusion
- Male or female aged over 18
- Patient with ROSAH syndrome with the confirm T237M mutation
Exclusion
- person under legal protection or under protectives measures
- person unable to express consent
- person in emergency situation (vital or not)
- person infected by Human Immunodeficiency Virus and/or Hepatitis B Virus and/or Hepatitis C Virus
Key Trial Info
Start Date :
September 6 2022
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
May 6 2028
Estimated Enrollment :
4 Patients enrolled
Trial Details
Trial ID
NCT05319132
Start Date
September 6 2022
End Date
May 6 2028
Last Update
August 8 2025
Active Locations (5)
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1
Hôpital Nord Croix Rousse
Lyon, Auvergne-Rhône-Alpes, France, 69004
2
service de Genetique - Institut de Biologie Santé PBH-IBS
Angers, France, 49000
3
Hôpital de la Pitié Salpétrière
Paris, France, 75013
4
Service D'ophtalmologie
Reims, France, 51000