Exostoses, Multiple HereditaryNCT05914298
Height, Ulnar Length and Forearm Function in Multiple Hereditary Exostoses
An observational study of Exostoses, Multiple Hereditary, run by Istituto Ortopedico Rizzoli at 1 site in Italy.
Trial 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 Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Exostoses, Multiple Hereditary
- What is being tested?
- blood and buccal swab genetic test, PUL and Range of motion
- Type of treatment
- Injection or infusion
- How many people
- 408 participants
- Where
- 1 siteItaly
- Study dates
- 1 Jan 2018to 1 Feb 2022
- How long will I take part?
- 3 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Children and adults Patients with HME.
Who may be able to join
- patients with HME (> 2 exostoses)
Who cannot join
- Patients with solitary exostoses
- Patients, adults or minors, who are unable to give their timely informed consent.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Analysis of the Relationship Among Height, Ulnar Length and Forearm Function in Patients With Multiple Hereditary Exostoses and Association With the Genotypic Pattern
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
Read the 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
- Conditions
- Exostoses, Multiple Hereditary
- Being tested
- blood and buccal swab genetic test, PUL, Range of motion
- Keywords
- Multiple Hereditary Exostoses, forearm, height, ulnar length
- Medical subject headings
- Exostoses, Multiple Hereditary
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood and buccal swab genetic testDiagnostic 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
PULDiagnostic test
measurement of ulnar length with anthropometer and patient's height
Range of motionDiagnostic test
measurement of range of motion of elbow, forearm and wrist
| Study group | Role | What they receive |
|---|---|---|
| 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) Receives: 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. Receives: Diagnostic Test: PUL; Diagnostic Test: Range of motion |
What is being measured
The primary outcome is the main question the study is designed to answer.
proportional ulnar length (PUL)
proportional ulnar length (PUL) is the ratio between ulnar lenght and the height of the patient
Measured: 1 year
Secondary outcomes (3)
genotype
identify potential association among the genotypic pattern (EXT1 or EXT2) and phenotypic presentation
Measured: 1 year
forearm function
elbow, forearm and wrist range of motion (ROM) measured by a goneometer
Measured: 1 year
EuroQol 5D
EQ-5D is a standardised measure of health-related quality of life developed by the EuroQol Group
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jun 2023
- Study start1 Jan 2018
- Primary completion1 Feb 2021
- Study completion1 Feb 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Exostoses, Multiple HereditaryStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 408 participants (actual)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- Istituto Ortopedico Rizzoli
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Giovanni Luigi Di Gennaro, MD, Principal investigator, Istituto Ortopedico Rizzoli
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05914298
- Sponsor's protocol ID
- 0012479
- Status last verified
- Jun 2023
- First submitted
- 16 Jan 2018
- Last updated
- 22 Jun 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
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.
PubMed 16088908Mordenti 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.
PubMed 23401177Pedrini 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.
PubMed 22258776Clement 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.
PubMed 24005199
Study at a glance
From the registry record, last updated by the sponsor on 22 Jun 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Analysis of the Relationship Among Height, Ulnar Length and Forearm Function in Patients With Multiple Hereditary Exostoses and Association With the Genotypic Pattern
- ClinicalTrials.gov ID
- NCT05914298
- Acronym / sponsor ID
- 0012479
- Conditions
- Exostoses, Multiple Hereditary
- Keywords
- Multiple Hereditary Exostoses, forearm, height, ulnar length
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 408 participants (actual)
- Lead sponsor
- Istituto Ortopedico RizzoliUniversity, hospital or other
- Study start
- 1 Jan 2018 (actual)
- Primary completion
- 1 Feb 2021 (actual)
- Study completion
- 1 Feb 2022 (actual)
- First posted
- 22 Jun 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 3 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| HME group | – | Diagnostic Test: blood and buccal swab genetic test, Diagnostic Test: PUL, Diagnostic Test: Range of motion204 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 | – | Diagnostic Test: PUL, Diagnostic Test: Range of motion204 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Children and adults Patients with HME.
Key inclusion criteria (1 listed)
- patients with HME (> 2 exostoses)
Key exclusion criteria (2 listed)
- Patients with solitary exostoses
- Patients, adults or minors, who are unable to give their timely informed consent.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| blood and buccal swab genetic testblood 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 | HME group |
| PULmeasurement of ulnar length with anthropometer and patient's height | Diagnostic test | HME group, healty control group |
| Range of motionmeasurement of range of motion of elbow, forearm and wrist | Diagnostic test | HME group, healty control group |
Primary outcome
proportional ulnar length (PUL)
Time frame: 1 year
proportional ulnar length (PUL) is the ratio between ulnar lenght and the height of the patient
3 secondary outcomes
genotype
Time frame: 1 year
forearm function
Time frame: 1 year
EuroQol 5D
Time frame: 1 year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Jun 2023.
- Results publication: PubMed 16088908Pedrini 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.
- Results publication: PubMed 23401177Mordenti 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.
- Results publication: PubMed 22258776Pedrini 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.
- Results publication: PubMed 24005199Clement 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.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Giovanni Luigi Di Gennaro, MD principal investigator
Istituto Ortopedico Rizzoli
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Exostoses, Multiple Hereditary, run by Istituto Ortopedico Rizzoli at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 Jun 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
proportional ulnar length (PUL) (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05914298, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Jun 2023.