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

New Phenotype (Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia) Clinical Trial

— BCL-2  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03651388
• Other study ID #: OLIVIER-FAIVRE AOI 2010
• Status: Completed
• Start date: June 1, 2010
• Est. completion date: December 2012

Study information

• Verified date: August 2018
• Source: Centre Hospitalier Universitaire Dijon
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 4
• Est. completion date: December 2012
• Est. primary completion date: June 2012
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older
• Eligibility: This study involves a single family, including 1 patient, father, mother and sister.

Related Conditions & MeSH terms

• Aortic Diseases
• Kidney Diseases
• Lymphopenia
• New Phenotype (Combining Premature White Hair, Polycystic Kidney Disease, Aortic Dilation/Dissection and Lymphopenia)
• Polycystic Kidney Diseases
• Premature Birth

Locations

Country	Name	City	State
France	Chu Dijon Bourogne	Dijon

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire Dijon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Whole genome sequencing of BCL2		Through study completion, an average of 2 years.
Primary	Bcl-2-regulating miRNA sequencing		Through study completion, an average of 2 years.
Primary	Study of the methylation of the BCL2 promoter		Through study completion, an average of 2 years.