Research Into the Molecular Bases of a New Phenotype Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia (BCL-2)
This study involves a single family, including 1 patient, father, mother and sister. The patient presented with a new phenotype associating premature white hair, renal polycystosis, aortic dilation/dissection and lymphopenia. Samples were taken in order to identify the origin of the symptomatology highlighted in the index case.
In addition, it was observed that mice invalidated for bcl-2, normal at birth and indistinguishable from control mice, showed, after one week, a phenotype similar to that observed in this patient.
The overlap between the patient's main clinical signs (lymphopenia, white hair and polycystic renal disease) and the manifestations presented by the invalidated murine model for BCL2 suggests that its phenotype may be secondary to a Bcl-2 expression defect.
Study Overview
Status
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
-
-
-
Dijon, France, 21000
- Chu Dijon Bourogne
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Study Plan
How is the study designed?
Design Details
- Observational Models: Family-Based
- Time Perspectives: Other
Cohorts and Interventions
Group / Cohort |
|---|
|
Patient
Patient with a new phenotype combining premature white hair, renal polycystosis, aortic dilation/dissection and lymphopenia
|
|
Related parties of the 1st degree
1st degree related family of Group A patient
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
|---|---|
|
Whole genome sequencing of BCL2
Time Frame: Through study completion, an average of 2 years.
|
Through study completion, an average of 2 years.
|
|
Bcl-2-regulating miRNA sequencing
Time Frame: Through study completion, an average of 2 years.
|
Through study completion, an average of 2 years.
|
|
Study of the methylation of the BCL2 promoter
Time Frame: Through study completion, an average of 2 years.
|
Through study completion, an average of 2 years.
|
Collaborators and Investigators
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Cardiovascular Diseases
- Vascular Diseases
- Immunologic Deficiency Syndromes
- Immune System Diseases
- Urologic Diseases
- Congenital Abnormalities
- Hematologic Diseases
- Genetic Diseases, Inborn
- Pathological Conditions, Anatomical
- Pregnancy Complications
- Obstetric Labor Complications
- Obstetric Labor, Premature
- Leukopenia
- Leukocyte Disorders
- Abnormalities, Multiple
- Kidney Diseases, Cystic
- Ciliopathies
- Kidney Diseases
- Premature Birth
- Polycystic Kidney Diseases
- Dilatation, Pathologic
- Lymphopenia
- Aortic Diseases
Other Study ID Numbers
- OLIVIER-FAIVRE AOI 2010
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.