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Biological Significance of the Bloom's Syndrome Protein


N/A
2 Years
55 Years
Not Enrolling
Both
Bloom Syndrome

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Trial Information

Biological Significance of the Bloom's Syndrome Protein


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.

Inclusion 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

Type of Study:

Observational

Study Design:

Observational Model: Defined Population, Observational Model: Natural History, Time Perspective: Longitudinal, Time Perspective: Retrospective/Prospective

Authority:

United States: Federal Government

Study ID:

NCRR-M01RR06020-0060

NCT ID:

NCT00021437

Start Date:

Completion Date:

Related Keywords:

  • Bloom Syndrome
  • Bloom syndrome protein
  • Bloom Syndrome

Name

Location

New York Hospital-Cornell Medical CenterNew York, New York  10021