Clinical trial · Observational
Height, Ulnar Length and Forearm Function in Multiple Hereditary Exostoses
Analysis of the Relationship Among Height, Ulnar Length and Forearm Function in Patients With Multiple Hereditary Exostoses and Association With the Genotypic Pattern
NCT05914298CI-TRIAL-00067397completedClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Exostoses, Multiple Hereditary | Multiple Osteochondromas | ALIAS | 0.90 |
Interventions
Interventions (3)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| blood and buccal swab genetic test | Diagnostic Test | — | UNRESOLVED |
| PUL | Diagnostic Test | — | UNRESOLVED |
| Range of motion | Diagnostic Test | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- label
- 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)
- interventionNames
- Diagnostic Test: blood and buccal swab genetic test
- Diagnostic Test: PUL
- Diagnostic Test: Range of motion
- label
- 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.
- interventionNames
- Diagnostic Test: PUL
- Diagnostic Test: Range of motion
Primary outcomes (1)
- measure
- proportional ulnar length (PUL)
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
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.
References
Publications (4)
- RESULTPedrini 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
- RESULTMordenti 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
- RESULTPedrini 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
- RESULTClement 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