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Biological Significance of the Bloom's Syndrome Protein

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00021437
Recruitment Status : Completed
First Posted : July 13, 2001
Last Update Posted : June 24, 2005
Information provided by:
National Center for Research Resources (NCRR)

Brief Summary:
Since 1960, persons with the very rare disorder Bloom's 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 Bloom's 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.

Condition or disease
Bloom Syndrome

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 doctor/patient 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.

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Study Type : Observational
Observational Model: Defined Population
Time Perspective: Other
Official Title: Biological Significance of the Bloom's Syndrome Protein

Resource links provided by the National Library of Medicine

Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years to 55 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  1. families include those ascertained by physician referral and those families already accessioned to The Bloom's Syndrome Registry
  2. the family has at least one affected member with BS

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00021437

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United States, New York
New York Hospital-Cornell Medical Center
New York, New York, United States, 10021
Sponsors and Collaborators
National Center for Research Resources (NCRR)
Layout table for additonal information Identifier: NCT00021437    
Other Study ID Numbers: NCRR-M01RR06020-0060
First Posted: July 13, 2001    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: December 2003
Keywords provided by National Center for Research Resources (NCRR):
Bloom syndrome protein
Additional relevant MeSH terms:
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Bloom Syndrome
Pathologic Processes
Abnormalities, Multiple
Congenital Abnormalities
Primary Immunodeficiency Diseases
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases
Immunologic Deficiency Syndromes
Immune System Diseases