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Clinical Trials in Italy / NCT04134572
Recruiting Observational

Registry of Ollier Disease and Maffucci Syndrome

NCT04134572 · tracked via the Priya Life Science Italy tracker
Sponsor
Luca Sangiorgi
Phase
Observational
Started
2017-01-16
Last updated
2025-11-20

Condition(s) studied

Ollier DiseaseMaffucci Syndrome

Study summary

REM is a retrospective and prospective registry, finalized to care and research. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc..

This approach has been individuated in order to corroborate and integrate data from different resources and aspects of the diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate diseases pathophysiology. Due to legal requirements, institutional directives and organizational issues, we are unable to include individuals residing outside Italy in the registry at this time. We are currently engaged in the preparation of a recruitment process for individuals residing outside Italy.

Eligibility

Sex
ALL
Min age
—
Max age
—
Healthy volunteers
Accepted
Inclusion Criteria: * All patients affected by Ollier Disease and Maffucci Syndrome Exclusion Criteria: * Any condition unrelated to Ollier Disease and/or Maffucci Syndrome

Primary outcome measure(s)

  • Natural History and Epidemiology in terms of clinical, genetic and functional evaluation — 25 years
    To maintain an established registry in order to assess epidemiology and natural history. Collection of: 1. physical examinations data: assessment of severity of the disease 2. orthopedic and functional data: stature (cm), weight (kg), number and localization of sites affected by enchondromas, site of malignant transformation, definition of deformities (localization and number), definition of limitations (localization and number) 3. surgical procedures: type, number and site of surgeries disease-related and age at surgeries 4. genetics background: target gene, type of mutation, type of variant detected, clinical significance 5. family history: inheritance in maternal or paternal line 6. treatment information: pharmacological, devices, supplements, and other treatments Clinical, orthopedic, surgical, treatment and functional features are updated at each follow up. Clinical reports, medical charts and imaging are the primary sources of data.

Trial sites (1)

FacilityCityRegionStatus
Irccs Istituto Ortopedico Rizzoli Bologna Emilia-Romagna Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT04134572 on ClinicalTrials.gov ↗ ← All trials in Italy