Height, Ulnar Length and Forearm Function in Multiple Hereditary Exostoses

NCT05914298 | Completed

• 1 other identifier: 0012479
• Study Type: observational
• Target: 408
• Locations: 1 country
• Sites: 1

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

Conditions

Exostoses, Multiple Hereditary

Keywords

Multiple Hereditary Exostoses, forearm, height, ulnar length

Outcome Measures

Primary Outcomes (1)

• proportional ulnar length (PUL)

  proportional ulnar length (PUL) is the ratio between ulnar lenght and the height of the patient

  1 year

Secondary Outcomes (3)

• genotype

  1 year

• forearm function

  1 year

• EuroQol 5D

  1 year

Study Arms (2)

HME group

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)

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

healty control group

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.

Diagnostic Test: PUL; Diagnostic Test: Range of motion

Interventions

blood and buccal swab genetic test DIAGNOSTIC_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

HME group

PUL DIAGNOSTIC_TEST

measurement of ulnar length with anthropometer and patient's height

HME group; healty control group

Range of motion DIAGNOSTIC_TEST

measurement of range of motion of elbow, forearm and wrist

HME group; healty control group

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Children and adults Patients with HME.

You may qualify if:

• \- patients with HME (\> 2 exostoses)

You may not qualify if:

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

Sponsors & Collaborators

• Istituto Ortopedico Rizzoli: lead

Study Sites (1)

Manila Boarini

Bologna, 40136, Italy

Location

Related Publications (4)

• Pedrini E, De Luca A, Valente EM, Maini V, Capponcelli S, Mordenti M, Mingarelli R, Sangiorgi L, Dallapiccola B. Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. Hum Mutat. 2005 Sep;26(3):280. doi: 10.1002/humu.9359.

  PMID: 16088908 RESULT

• Mordenti M, Ferrari E, Pedrini E, Fabbri N, Campanacci L, Muselli M, Sangiorgi L. Validation of a new multiple osteochondromas classification through Switching Neural Networks. Am J Med Genet A. 2013 Mar;161A(3):556-60. doi: 10.1002/ajmg.a.35819. Epub 2013 Feb 8.

  PMID: 23401177 RESULT

• Pedrini E, Jennes I, Tremosini M, Milanesi A, Mordenti M, Parra A, Sgariglia F, Zuntini M, Campanacci L, Fabbri N, Pignotti E, Wuyts W, Sangiorgi L. Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. J Bone Joint Surg Am. 2011 Dec 21;93(24):2294-302. doi: 10.2106/JBJS.J.00949.

  PMID: 22258776 RESULT

• Clement ND, Porter DE. Forearm deformity in patients with hereditary multiple exostoses: factors associated with range of motion and radial head dislocation. J Bone Joint Surg Am. 2013 Sep 4;95(17):1586-92. doi: 10.2106/JBJS.L.00736.

  PMID: 24005199 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

blood or buccal swabs

MeSH Terms

Conditions

Exostoses, Multiple Hereditary

Interventions

Blood Specimen Collection; Range of Motion, Articular

Condition Hierarchy (Ancestors)

Osteochondromatosis; Osteochondroma; Neoplasms, Bone Tissue; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Exostoses; Hyperostosis; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques; Physical Examination; Musculoskeletal Physiological Phenomena; Musculoskeletal and Neural Physiological Phenomena

Study Officials

• Giovanni Luigi Di Gennaro, MD

  Istituto Ortopedico Rizzoli

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 16, 2018
• First Posted: June 22, 2023
• Study Start: January 1, 2018
• Primary Completion: February 1, 2021
• Study Completion: February 1, 2022
• Last Updated: June 22, 2023

Record last verified: 2023-06

Locations

IT (1)