RecruitingNCT06749366
Connective Tissue
Enchondromatosis
Also known as Ollier disease, multiple enchondromas, multiple osteochondromas
Enchondromatosis, or Ollier disease, is a non-heritable skeletal disorder characterised by multiple benign cartilaginous tumours (enchondromas) arising within medullary bone, caused in the majority of cases by somatic mosaic gain-of-functio
ORPHA:96234 ↗Gene IDH1Gene IDH2 (somatic)Prevalence 1 in 100,000Onset ChildhoodGenetic — somatic mosaic (IDH1/IDH2); sporadic; non-heritable
5
studies recruiting now
as of 7 Sept 2026
14
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
29 Apr 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT07556874
Descriptive Analysis of Surgeries in Patients With Multiple Osteochondromas
RecruitingNCT06703736
Functional and Morphological Characterization of Multiple Osteochondromas Disorder
RecruitingNCT04133285
Registry of Multiple Osteochondromas
RecruitingNCT04134572
Registry of Ollier Disease and Maffucci Syndrome
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Enchondromatosis
Enchondromatosis, or Ollier disease, is a non-heritable skeletal disorder characterised by multiple benign cartilaginous tumours (enchondromas) arising within medullary bone, caused in the majority of cases by somatic mosaic gain-of-function mutations in IDH1 or IDH2. The lesions predominantly affect the hands, feet, and long bones, causing progressive skeletal deformity, limb length discrepancy, and pathological fractures, with unilateral or asymmetric distribution typical of the mosaic mutational origin. The most critical long-term risk is malignant transformation of enchondromas to chondrosarcoma, estimated at 25–30% lifetime risk, which requires lifelong surveillance imaging.
Common clinical features
Multiple enchondromas in metacarpals, phalanges, and long bonesProgressive limb length discrepancySkeletal deformity with bowing of affected limbsPathological fractures through enchondroma-weakened boneAsymmetric or unilateral distribution of lesionsSwelling and pain at affected sitesRisk of malignant transformation to chondrosarcoma in adulthood
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Enchondromatosis. Not eligibility rules; those are set by each study.
- MRI or CT imaging of all known enchondroma sites with comparison to prior imaging is required at baseline screening to document lesion size, number, and any features suspicious for malignant transformation.
- IDH1/IDH2 somatic mutation testing on tumour tissue or affected bone (not blood) is preferred; negative blood results do not exclude diagnosis — clarify the source of molecular testing with the laboratory.
- Prior history of chondrosarcoma or current imaging features suspicious for malignancy are typically exclusion criteria for non-oncology trials; ensure full surgical and oncological history is available.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).