Height, Ulnar Length and Forearm Function in Multiple Hereditary Exostoses

Completed

• Conditions: Exostoses, Multiple Hereditary
• Interventions: Diagnostic Test: blood and buccal swab genetic test; Diagnostic Test: PUL; Diagnostic Test: Range of motion

• Registration Number: NCT05914298
• Lead Sponsor: Istituto Ortopedico Rizzoli

Brief 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

Detailed Description

Hereditary Multiple Exostoses (HME) is a rare pediatric autosomal dominant disorder caused by loss-of-function mutations in the genes encoding the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2. HME affects 1 in 50,000 people and has 100% penetrance but great variability in phenotypic expression. HME is characterized by formation of cartilaginous outgrowths, called osteochondromas or exostoses, next to the growth plates of many axial and appendicular skeletal elements, causing multiple, painful disfiguring and disabling skeletal deformities, and potential malignant transformation into peripherral chondrosarcoma.

The involvement of upper-limb bones by HME is associated with greater loss of function than elsewhere in the body, but even here the loss of function may be limited. Moreover, the constant relationship between height and ulnar length has long been recognized in forensic medicine and has been recently analyzed also in HME, in order to predict the clinical and functional outcomes of the upper limb.

the present registry aims to collect demographic, clinical, functional and radiographic information from patients with HME in order to establish phenotypic predictors of severity of the disease and potential association with genotypic patterns

Study Timeline

• Study Start: 2018-01-01
• Study First Submitted: 2018-01-16
• Primary Completion: 2021-02-01
• Study Completion: 2022-02-01
• Status Verified: 2023-06
• Study First Submitted QC: 2023-06-21
• Last Update Submitted: 2023-06-21
• Study First Posted: 2023-06-22
• Last Update Posted: 2023-06-22

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 408

Inclusion Criteria

• patients with HME (> 2 exostoses)

Exclusion Criteria

• Patients with solitary exostoses
• Patients, adults or minors, who are unable to give their timely informed consent.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
HME group	blood and buccal swab genetic test	204 children and adult patients with HME, admitted to our Hospital for diagnosis and treatment. the patients will be stratified by age in four subgroups: * subgroup I (0-7 Years) * subgroup II (8-12 Years) * subgroup III (13-18 Years) * subgroup IV (\>18 Years)
healty control group	PUL	204 children and adult voluntary healty controls will be stratified in the same manner and matched with the population in study in order to assess normal and pathologic growth.
HME group	PUL	204 children and adult patients with HME, admitted to our Hospital for diagnosis and treatment. the patients will be stratified by age in four subgroups: * subgroup I (0-7 Years) * subgroup II (8-12 Years) * subgroup III (13-18 Years) * subgroup IV (\>18 Years)
healty control group	Range of motion	204 children and adult voluntary healty controls will be stratified in the same manner and matched with the population in study in order to assess normal and pathologic growth.
HME group	Range of motion	204 children and adult patients with HME, admitted to our Hospital for diagnosis and treatment. the patients will be stratified by age in four subgroups: * subgroup I (0-7 Years) * subgroup II (8-12 Years) * subgroup III (13-18 Years) * subgroup IV (\>18 Years)

Primary Outcome Measures

Name	Time	Method
proportional ulnar length (PUL)	1 year	proportional ulnar length (PUL) is the ratio between ulnar lenght and the height of the patient

Secondary Outcome Measures

Name	Time	Method
genotype	1 year	identify potential association among the genotypic pattern (EXT1 or EXT2) and phenotypic presentation
EuroQol 5D	1 year	EQ-5D is a standardised measure of health-related quality of life developed by the EuroQol Group
forearm function	1 year	elbow, forearm and wrist range of motion (ROM) measured by a goneometer

Trial Locations

Locations (1)

Manila Boarini; 🇮🇹 Bologna, Italy