Ignite Creation Date:
2024-05-05 @ 11:24 AM
Last Modification Date:
2024-10-26 @ 9:06 AM
Study NCT ID:
NCT00021437
Status:
COMPLETED
Last Update Posted:
2005-06-24
First Post:
2001-07-11
Brief Title:
Biological Significance of the Blooms Syndrome Protein
Sponsor:
National Center for Research Resources NCRR
Organization:
National Center for Research Resources NCRR
Study Overview
Official Title:
Biological Significance of the Blooms Syndrome Protein
Status:
COMPLETED
Status Verified Date:
2003-12
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Since 1960 persons with the very rare disorder Blooms syndrome BS have been followed clinically documenting clinical matters as obtained from their doctors This has been a worldwide search for cases though a few in the New York City area are seen personally by us perhaps once every 2-3 years BS is a rare genetically-determined disorder described in NYC in 1954 The clinical courses of the 169 persons diagnosed BS by 1991 are followed in a program referred to as the Blooms Syndrome Registry BS is the prototype of the chromosome-breakage syndromes BS cells mutate at a greater rate than any other and the consequence is the greatest known predisposition to cancers of the types that affect the general human population We are defining the clinical syndrome and at the same time are studying cells from affected families in the experimental laboratory BS is a model for learning about cancer Our contact with families lets us know of cancers arising but blood and sometimes tiny biopsies of skin is taken if available so that a the chromosomes can be studied and b the gene mutations can be defined in molecular terms
Detailed Description:
Although an occasional person with BS will be admitted to the hospital for special study endocrine evaluation mainly--two in the last 25 years--the Registry does not develop a doctorpatient relationship with affected persons They have their own doctors We gather information about the affected persons and publish reports We also publish reports of experiments carried out in the research laboratory using BS cells Because we are a central repository for information on BS families or their physicians find contact with us beneficial and we provide them with information requested Sometimes pregnancies at risk occur and we have on occasion made cytogenic chromosome analysis of cultured cells of amniotic fluid the cultures being initiated elsewhere and sent to us for cytogenetic study
Although the accessioning of new cases to the Registry was closed in 1991 4-5 new patients are referred to us each year and their clinical courses also are being followed To date the 169 officially registered and 36 additional cases are under our surveillance
Although the accessioning of new cases to the Registry was closed in 1991 4-5 new patients are referred to us each year and their clinical courses also are being followed To date the 169 officially registered and 36 additional cases are under our surveillance
Study Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?: