Height, Ulnar Length and Forearm Function in Multiple Hereditary Exostoses

Istituto Ortopedico Rizzoli

Status: Completed

Conditions: Exostoses, Multiple Hereditary

Treatments: Diagnostic Test: Range of motion; Diagnostic Test: PUL; Diagnostic Test: blood and buccal swab genetic test

Study type: Observational

Funder types: Other

Identifiers

NCT05914298

0012479

Details and patient eligibility

About

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

Full 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

Enrollment: 408 patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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.

Trial design

408 participants in 2 patient groups

HME group

Description:

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)

Treatment:

Diagnostic Test: blood and buccal swab genetic test

Diagnostic Test: PUL

Diagnostic Test: Range of motion

healty control group

Description:

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.

Treatment:

Diagnostic Test: PUL

Diagnostic Test: Range of motion