An observational study in Exostoses, Multiple Hereditary, sponsored by Istituto Ortopedico Rizzoli. Completed at 1 site in Italy. Per ClinicalTrials.gov, last updated 2023-06-22.
Sponsored by Istituto Ortopedico Rizzoli · Observational
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
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
Istituto Ortopedico Rizzoli is the lead sponsor of 304 studies on the registry; 103 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Children and adults Patients with HME.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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
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
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
measurement of ulnar length with anthropometer and patient's height
measurement of range of motion of elbow, forearm and wrist
proportional ulnar length (PUL)
proportional ulnar length (PUL) is the ratio between ulnar lenght and the height of the patient
Time frame: 1 year
genotype
identify potential association among the genotypic pattern (EXT1 or EXT2) and phenotypic presentation
Time frame: 1 year
forearm function
elbow, forearm and wrist range of motion (ROM) measured by a goneometer
Time frame: 1 year
EuroQol 5D
EQ-5D is a standardised measure of health-related quality of life developed by the EuroQol Group
Time frame: 1 year
Plan to share: Undecided
Ran from Jan 2018 to primary completion in Feb 2021, 37 months.
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This study is completed, as verified in Jun 2023. You cannot join it, but the record below documents what was studied.
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Exostoses, Multiple Hereditary