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

NCT00474331 | Suspended

• 1 other identifier: H04-70223
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Exostoses, Multiple Hereditary

Keywords

DNA sequencing; EXT genes; Hereditary Multiple Exostoses,; also known as Multiple Hereditary Exostoses,; also known as Hereditary Multiple Osteochondromas

Outcome Measures

Primary Outcomes (1)

• orthopedic symptoms as assessed by X-ray measurements

  Post gene mutation identification

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

New patients presenting with HME will be identified through the offices and clinics of British Columbia Children's Hospital Orthopaedic Department.

You may qualify if:

• Diagnosed with HME

You may not qualify if:

• Subjects residing outside British Columbia for whom genetic testing and X-ray measurements cannot be taken onsite at BC Children's hospital

Sponsors & Collaborators

• University of British Columbia: lead

Study Sites (1)

BC Children's Hospital

Vancouver, British Columbia, V6H 3V4, Canada

Location

MeSH Terms

Conditions

Exostoses, Multiple Hereditary

Condition Hierarchy (Ancestors)

Osteochondromatosis; Osteochondroma; Neoplasms, Bone Tissue; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Exostoses; Hyperostosis; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Christine Alvarez, MD

  University of British Columbia

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principle Investigator

Study Record Dates

• First Submitted: May 14, 2007
• First Posted: May 16, 2007
• Study Start: June 1, 2004
• Primary Completion: June 1, 2023
• Study Completion: June 1, 2023
• Last Updated: May 18, 2022

Record last verified: 2017-05

Locations

CA (1)