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Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project

NCT00474331 · Status: SUSPENDED · Type: OBSERVATIONAL · Enrollment: 2000

Last updated 2022-05-18

No results posted yet for this study

Summary

The investigator's goal for this project is to examine the causes of the wide variability of the expression of Hereditary Multiple Exostoses (HME). Previous work completed by our group shows that there exists a correlation between genotype and phenotype such that certain mutations or affected genes cause certain patterns of presentation, symptoms, and signs. The investigators intend to achieve this goal by increasing our study sample size to build upon the results generated from the pilot project of this study, in order to obtain statistical significance. This will be achieved by performing genotype-phenotype analysis on new families presenting with HME in British Columbia.

Conditions

  • Exostoses, Multiple Hereditary

Sponsors & Collaborators

  • University of British Columbia

    lead OTHER

Principal Investigators

  • Christine Alvarez, MD · University of British Columbia

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2004-06-30
Primary Completion
2023-06-30
Completion
2023-06-30

Countries

  • Canada

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00474331 on ClinicalTrials.gov