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Height, Ulnar Length and Forearm Function in Multiple Hereditary Exostoses

NCT05914298 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 408

Last updated 2023-06-22

No results posted yet for this study

Summary

the purpose of the present registry is to describe the epidemiology of forearm deformities in patients with Hereditary Multiple Exostoses and to identify, independent predictors of severity of the disease and potential association with genotypic patterns

Conditions

  • Exostoses, Multiple Hereditary

Interventions

DIAGNOSTIC_TEST

blood and buccal swab genetic test

blood samples and buccal swabs will be obtained from patients with HME in order to analyze the genotype (EXT1 or EXT2 mutations) and correlate the genotypic pattern with the phenotypic presentation

DIAGNOSTIC_TEST

PUL

measurement of ulnar length with anthropometer and patient's height

DIAGNOSTIC_TEST

Range of motion

measurement of range of motion of elbow, forearm and wrist

Sponsors & Collaborators

  • Istituto Ortopedico Rizzoli

    lead OTHER

Principal Investigators

  • Giovanni Luigi Di Gennaro, MD · Istituto Ortopedico Rizzoli

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2018-01-01
Primary Completion
2021-02-01
Completion
2022-02-01

Countries

  • Italy

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 NCT05914298 on ClinicalTrials.gov