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Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC

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Exostoses, Multiple Hereditary

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Trial Information

Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC

The purpose of this study is to establish the genetic make-up of families and patients with
HME. This will occur as the patient presents to a regular clinic visit. Dr. Alvarez will be
introduced to interested patients and their parent(s) and a brief discussion about the
project will occur. If the patient and their direct family are interested they will be
entered into the study. This will involve interviewing the patients and their direct
family. This interview will take about 1 hour. We are interested in identifying all
affected family members as far up the family tree as possible. We ask that the idea of the
study be introduced to extended family members by the participating family members and then
have them call Dr. Alvarez to set up an appointment. Each available member will be
interviewed and a physical exam done to determine the location of osteochondromas. In
addition, Xrays will be done to determine the location of all osteochondromas. All Xrays
will be reviewed. No new ones will be taken unless it is part of the patient's routine

To complete the genetic work up DNA analysis will be done on all available family members.
This will entail obtaining a blood sample from each family member willing to partake in the
study. These blood samples will be used only for the purpose of identifying abnormalities
in the genes related to osteochondromas. The blood samples will be taken at British
Columbia's Children's Hospital and processed there. DNA samples will be kept confidential.

Inclusion Criteria:

- Diagnosed with HME

Type of Study:


Study Design:

Observational Model: Case-Only, Time Perspective: Retrospective

Principal Investigator

Christine Alvarez, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

University of British Columbia


Canada: Health Canada

Study ID:




Start Date:

December 1998

Completion Date:

March 2023

Related Keywords:

  • Exostoses, Multiple Hereditary
  • DNA sequencing
  • EXT genes
  • Hereditary Multiple Exostoses,
  • also known as Multiple Hereditary Exostoses,
  • also known as Hereditary Multiple Osteochondromas
  • Exostoses
  • Osteophyte
  • Osteochondroma
  • Exostoses, Multiple Hereditary
  • Osteochondromatosis