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Biological Significance of the Bloom's Syndrome Protein

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ClinicalTrials.gov Identifier: NCT00021437
Recruitment Status : Completed
First Posted : July 13, 2001
Last Update Posted : June 24, 2005
Sponsor:
Information provided by:
National Center for Research Resources (NCRR)

Tracking Information
First Submitted Date July 11, 2001
First Posted Date July 13, 2001
Last Update Posted Date June 24, 2005
Study Start Date Not Provided
Primary Completion Date Not Provided
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History No Changes Posted
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Biological Significance of the Bloom's Syndrome Protein
Official Title Biological Significance of the Bloom's Syndrome Protein
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.
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.

Study Type Observational
Study Design Observational Model: Defined Population
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Not Provided
Study Population Not Provided
Condition Bloom Syndrome
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Enrollment Not Provided
Original Enrollment Not Provided
Study Completion Date Not Provided
Primary Completion Date Not Provided
Eligibility Criteria
  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
Sex/Gender
Sexes Eligible for Study: All
Ages 2 Years to 55 Years   (Child, Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00021437
Other Study ID Numbers NCRR-M01RR06020-0060
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Not Provided
Study Sponsor National Center for Research Resources (NCRR)
Collaborators Not Provided
Investigators Not Provided
PRS Account National Center for Research Resources (NCRR)
Verification Date December 2003