Clinical Trial: Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project
Study Status: Suspended
Recruit Status: Suspended
Study Type: Observational
Official Title: Genotype-Phenotype Correlation of Multiple Hereditary Exostoses: Multicentre Project
Brief 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.
Detailed Summary:
Subject Recruitment:
New patients presenting with HME will be identified through the offices and clinics of British Columbia Children's Hospital Orthopaedic Department. All potential participants will be educated about the study's rationale, purpose, and procedures and informed consent will be obtained.
Demographics:
All probands (affected patient), their first degree family members and extended family members willing to participate in the study will be interviewed. Information including age, gender, ethnic origin, family history, symptoms, complications and previous surgery will be elucidated.
Phenotype:
Affected patients will have their osteochondroma(s) mapped for location, size, morphology, and symptoms. A total of seventy-five phenotypic parameters divided into four major data categories will be collected. The first two categories are accumulated from physical examinations and include stature and limb segment lengths (15 (x2 for left and right). The other two categories, lesion quality (19 parameters) and limb alignment and deformity (26 parameters) will be drawn from radiographic examinations which are part of the patient's current care. All available xrays will be reviewed and the exostoses characterized radiographically. This will establish the patient's genotype.
Genotype:
Each participant whose genotype is unknown will have a 10 cc. blood sample collected at BC Children's Hospital. This sample will be processed for mutation analysis (DNA extraction from blood samples, mutation analysis) at the Clinical Molecular Diagnostic Laboratory at BC Children's Hospital. The tec
Sponsor: University of British Columbia
Current Primary Outcome: orthopedic symptoms as assessed by X-ray measurements [ Time Frame: Post gene mutation identification ]
Original Primary Outcome:
Current Secondary Outcome:
Original Secondary Outcome:
Information By: University of British Columbia
Dates:
Date Received: May 14, 2007
Date Started: June 2004
Date Completion: June 2023
Last Updated: December 12, 2014
Last Verified: December 2014
