Clinical trial · Observational
Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project
Genotype-Phenotype Correlation of Multiple Hereditary Exostoses: Multicentre Project
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Why stopped (as posted): Due to unavailability of testing for gene mutation
Summary
Brief summary (as posted)
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
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Exostoses, Multiple Hereditary | Multiple Osteochondromas | ALIAS | 0.90 |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (1)
- measure
- orthopedic symptoms as assessed by X-ray measurements
- timeFrame
- Post gene mutation identification
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
Inclusion Criteria: * Diagnosed with HME Exclusion Criteria * Subjects residing outside British Columbia for whom genetic testing and X-ray measurements cannot be taken onsite at BC Children's hospital
References
Publications (0)
Data not yet available