Registry of Ollier Disease and Maffucci Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorLuca Sangiorgi
About this trial
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 criteria
This trial accepts healthy volunteersQualifiers
All patients affected by Ollier Disease and Maffucci Syndrome
Disqualifiers
Any condition unrelated to Ollier Disease and/or Maffucci Syndrome
Trial population
All patients affected by Ollier Disease and Maffucci Syndrome
Trial design
Design model
Cohort
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
400 Participants
are grouped into 1 trial groupGroup A: Ollier Disease and Maffucci Syndrome patients
Trial outcomes
Primary outcomes
1
Natural History and Epidemiology in terms of clinical, genetic and functional evaluation
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.
Time frame
25 yearsSecondary outcomes
1
Genotype-Phenotype Correlation among clinical features and eventual molecular background
Despite the unclear genetic background of Ollier disease and Maffucci syndrome, the secondary outcome aims to correlate genotype and phenotype. This includes, but is not limited to clinical features and genetic background. This will be pursued using the information collected during visits and follow-ups.
Time frame
25 yearsOther outcomes
1
Longitudinal study of disease evolution (including prospective and retrospective data)
This outcome aims to investigate the evolution of Ollier Disease and Maffucci Syndrome during time. Main clinical features such as height (cm), number and localization of enchondromas, number and localization of deformities, number and localization of limitations, site/age at malignant transformation will be collected both retrospectively and prospectively in the entire population. Those data will be collected both retrospectively and prospectively for all patients via physical examination, clinical reports and imaging. An evaluation of these parameters will be performed at each visit to keep track on the progression of the clinical manifestations. Data will be collected to define annualized rate of new clinical manifestations related to age, using analyses such as Kaplan-Meyer and surviving rate.
Time frame
25 yearsSponsors and contacts
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Luca Sangiorgi
Lead sponsor
Istituto Ortopedico Rizzoli
Sponsor institution
Source ClinicalTrials.gov