Research Into the Molecular Bases of a New Phenotype Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia
NCT ID: NCT03651388
Last Updated: 2018-08-29
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
4 participants
OBSERVATIONAL
2010-06-01
2012-12-31
Brief Summary
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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.
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Detailed Description
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Conditions
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Study Design
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FAMILY_BASED
OTHER
Study Groups
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Patient
Patient with a new phenotype combining premature white hair, renal polycystosis, aortic dilation/dissection and lymphopenia
No interventions assigned to this group
Related parties of the 1st degree
1st degree related family of Group A patient
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
ALL
Yes
Sponsors
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Centre Hospitalier Universitaire Dijon
OTHER
Responsible Party
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Locations
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Chu Dijon Bourogne
Dijon, , France
Countries
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Other Identifiers
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OLIVIER-FAIVRE AOI 2010
Identifier Type: -
Identifier Source: org_study_id
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