Research Into the Molecular Bases of a New Phenotype Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia

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.

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Key information

Conditions

New Phenotype (Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia) Abnormalities, Multiple Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cytopenia Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Immune System Diseases Immunologic Deficiency Syndromes Kidney Diseases Kidney Diseases, Cystic Leukocyte Disorders Leukopenia Lymphopenia Male Urogenital Diseases Polycystic Kidney Diseases Urogenital Diseases Urologic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Chu Dijon Bourogne

Dijon, 21000, France

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

This study involves a single family, including 1 patient, father, mother and sister.

Treatment and study plan

Primary outcomes

Whole genome sequencing of BCL2

Time frame: Through study completion, an average of 2 years.
Bcl-2-regulating miRNA sequencing

Time frame: 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.

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire Dijon

Other

Registry information

Acronym: BCL-2

Important dates

Study start: 2010
Primary completion: 2012
Study completion: 2012
First posted: Aug 29, 2018
Registry last updated: Aug 29, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed