NCT00474331

Suspended

Gene Mutations and Orthopaedic Symptoms Correlation of Multi...

University of British Columbia Source

University of British Columbia

ClinicalTrials.gov

Compare

Other study identifiers

Sponsor study identifier

H04-70223

Study Type

observational

Estimated enrollment

2,000

Locations

1 country

Sites

1

Timeline

Study Start

June 2004

Date type not reported

This date has not been verified as actual or estimated.

Primary Completion

June 2023

Estimated (date passed)

This estimate has passed. The registry has not confirmed an actual date for this milestone.

Study Completion

June 2023

Estimated (date passed)

This estimate has passed. The registry has not confirmed an actual date for this milestone.

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.

Registry Overview

Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.

Recruitment status: suspended
Estimated enrollment: 2,000 participants
Study completion date: June 2023
Estimated (date passed)
This estimate has passed. The registry has not confirmed an actual date for this milestone.
Listed locations: 1 countries · 1 sites

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.

Study Start
June 2004
Date type not reported
This date has not been verified as actual or estimated.
First Submitted
May 14, 2007
Actual (reported)
First Posted
May 16, 2007
Actual (reported)
Primary Completion
June 2023
Estimated (date passed)
This estimate has passed. The registry has not confirmed an actual date for this milestone.
Study Completion
June 2023
Estimated (date passed)
This estimate has passed. The registry has not confirmed an actual date for this milestone.

Last Updated: May 18, 2022
Status Verified: May 2017
Last Update Submitted: May 16, 2022

Conditions

Exostoses, Multiple Hereditary

Keywords

DNA sequencingEXT genesHereditary 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

Sexall

Healthy VolunteersNo

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodNon-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:

Sponsors & Collaborators

University of British Columbia
Otherlead

Study Sites (1)

BC Children's Hospital

Vancouver, British Columbia, V6H 3V4, Canada

MeSH Terms

Conditions

Exostoses, Multiple Hereditary

Condition Hierarchy (Ancestors)

OsteochondromatosisOsteochondromaNeoplasms, Bone TissueNeoplasms, Connective TissueNeoplasms, Connective and Soft TissueNeoplasms by Histologic TypeNeoplasmsNeoplastic Syndromes, HereditaryOsteochondrodysplasiasBone Diseases, DevelopmentalBone DiseasesMusculoskeletal DiseasesExostosesHyperostosis

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 2004

Date type not reported

This date has not been verified as actual or estimated.

Primary Completion

June 2023

NCT03442985

An Efficacy and Safety Study of Palovarotene for the Treatment of MO

Phase 2Terminated

NCT04133285

Registry of Multiple Osteochondromas

Recruiting

NCT07839637

Survey on Multiple Osteochondromas and Enchondromatoses During the Transition From Paediatric Care to Adult Care

Completed

NCT03557567

NGS Strategy Effectiveness in Molecular Diagnosis

Completed

NCT06397443

Ready to Sail: Evaluating Sailing's Feasibility as Ergotherapy

Not ApplicableCompleted

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

Contact the study team to confirm eligibility.

Genetic Diseases, Inborn

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Estimated (date passed)

This estimate has passed. The registry has not confirmed an actual date for this milestone.

Study Completion

June 2023

Estimated (date passed)

This estimate has passed. The registry has not confirmed an actual date for this milestone.

Last Updated

May 18, 2022

Record last verified: 2017-05

Source record

Download the complete ClinicalTrials.gov record imported by Syfrah, including fields not shown in this page. The registry may contain a newer revision.

Source: ClinicalTrials.gov.

JSON downloads include source attribution and retrieval details alongside the unchanged original record or the separately normalized values.

Registry identifier: NCT00474331
Data provider: ClinicalTrials.gov
Source updated: 2022-05-18
Normalization version: ctgov-legacy-1

Open registry record

Source retrieved: 2026-10-25 22:28:12 UTC

Locations

CA(1)

Study Stopped

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

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Eligibility Criteria

You may qualify if:

You may not qualify if:

Sponsors & Collaborators

Study Sites (1)

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Study Design

Study Record Dates

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Eligibility Criteria

You may qualify if:

You may not qualify if:

Sponsors & Collaborators

Study Sites (1)

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Study Design

Study Record Dates

Source record

Locations