Biological Significance of the Bloom's Syndrome Protein

NCT00021437 | Completed

• 1 other identifier: NCRR-M01RR06020-0060
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

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.

Conditions

Bloom Syndrome

Keywords

Bloom syndrome protein

Eligibility Criteria

• Age: 2 Years - 55 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

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

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• National Center for Research Resources (NCRR): lead

Study Sites (1)

New York Hospital-Cornell Medical Center

New York, New York, 10021, United States

Location

MeSH Terms

Conditions

Bloom Syndrome

Condition Hierarchy (Ancestors)

Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Primary Immunodeficiency Diseases; Genetic Diseases, Inborn; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Immunologic Deficiency Syndromes; Immune System Diseases

Study Design

• Study Type: observational
• Observational Model: DEFINED POPULATION
• Time Perspective: OTHER
• Sponsor Type: NIH

Study Record Dates

• First Submitted: July 11, 2001
• First Posted: July 13, 2001
• Last Updated: June 24, 2005

Record last verified: 2003-12

Locations

US (1)