Ollier DiseaseROMNCT04134572
Registry of Ollier Disease and Maffucci Syndrome
An observational study of Ollier Disease and Maffucci Syndrome, run by Luca Sangiorgi at 1 site in Italy.
Trial 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.. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Ollier Disease, Maffucci Syndrome
- How many people
- 400 participants
- Where
- 1 siteItaly
- Study dates
- 16 Jan 2017to Jan 2032
- How long will I take part?
- 25 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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: All patients affected by Ollier Disease and Maffucci Syndrome
Who may be able to join
- All patients affected by Ollier Disease and Maffucci Syndrome
Who cannot join
- Any condition unrelated to Ollier Disease and/or Maffucci Syndrome
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
Irccs Istituto Ortopedico Rizzoli
Bologna, Emilia-Romagna, 40136
Marina Mordenti, PhD, +39 051 6366062, registri.malattierare@ior.it
Marcella Lanza, PhD, +39 051 63666169, registri.malattierare@ior.it
About this study
Official title: Registry of Ollier Disease and Maffucci Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Treatment, Quality of Life Data. Data is Linked to Patients' Biological Samples, When Available
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.
Read the detailed description
The traditional method of collecting patient information is often chaotic, inconvenient and sometimes even unsafe, particularly when dealing with rare diseases. In 2017, the need to simplify the diagnostic process and to overcome the difficulties of data storage and analysis, led to the suggestion of implementing the Registry of Ollier Disease and Maffucci Syndrome (ROM).
The ROM relies on an IT platform named Genotype-phenotype Data Integration platform - GeDI. This solution, realized by a collaboration among Medical Genetic Department and a local software-house (Dilaxia Spa), is a General Data Protection Regulation (GDPR)-compliant, multi-client, web-accessible system and it has been designed according to current medical informatics standards (Orphanet code, ICD-10, Human Genome Variants Society, Findability Accessibility Interoperability Reusability Principles). GeDI is continuously implemented to improve management of persons with Ollier Disease and Maffucci Syndrome and to help researchers in analyzing collected information. ROM is articulated in main sections:
- Personal data: it comprises general information, birth details and residence data;
- Patient data: including the patients internal code, the hospital code and other patient details;
- Diagnostic Process: the diagnosis, the status (affected, suspected, etc.), age at diagnosis, comorbidities, allergies, etc.;
- Genogram: a tool for designing the family transmission of the disease, alongside information on the disease status of all relatives included;
- Clinical events: it records a long list of signs and symptoms of Ollier Disease and Maffucci Syndrome as well as several additional items to describe the disease
- Genetic Analysis and Alteration: including analytical technique, sample information, analysis duration, etc. This section also comprises detailed information on any detected pathological variants (e.g. gene, international reference, DNA change, protein change, genomic position, etc.);
- Visits: this section includes visit type (genetic, orthopedic, rehabilitation, pediatric, etc.), the date of the visit, prescriptions, imaging, etc.;
- Treatments: this section comprises information of a wide range of treatments including pharmacological, devices, supplements, and other treatments such as psychological, nutritional, etc.;
- Surgeries: this section contains information on the type of surgeries, the age of the patients, the site/localization of the procedures, etc.
- Documents: this repository allow us to store all types of documents (radiological reports, imaging, consents, clinical reports, etc.);
- Consents: this section provides a comprehensive overview of all consents collected, including the collection date;
- Samples: this section includes information on the samples, like the type, date of collection, etc.
- PROs: this section collects information on patients reported outcomes such as the quality of life or ABC scale.
- Conditions
- Ollier Disease, Maffucci Syndrome
- Keywords
- Disease Registry, Natural History Study, Disease Evolution
- Medical subject headings
- Enchondromatosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Ollier Disease and Maffucci Syndrome patients | The group comprises all patients affected by Ollier Disease and Maffucci Syndrome. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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:
- physical examinations data: assessment of severity of the disease
- 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)
- surgical procedures: type, number and site of surgeries disease-related and age at surgeries
- genetics background: target gene, type of mutation, type of variant detected, clinical significance
- family history: inheritance in maternal or paternal line
- 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.
Measured: 25 years
Secondary 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.
Measured: 25 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Oct 2019
- Study start16 Jan 2017
- Primary completionJan 2032 (estimated)
- Study completionJan 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (8)Papers the sponsor has linked to this study.
- Other trials for Ollier DiseaseStudies 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
- Other
- Enrolment
- 400 participants (estimated)
- Target duration
- 25 Years
Sponsor and investigators
- Lead sponsor
- Luca Sangiorgi
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Luca Sangiorgi, Istituto Ortopedico Rizzoli
- Investigators
- Luca Sangiorgi, MD, PhD, MS, Principal investigator, Istituto Ortopedico Rizzoli
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04134572
- Sponsor's protocol ID
- 378/2017
- Acronym
- ROM
- Status last verified
- Nov 2025
- First submitted
- 14 Oct 2019
- Last updated
- 20 Nov 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Bertucci V, Krafchik BR. What syndrome is this? Ollier disease + vascular lesions: Maffucci syndrome. Pediatr Dermatol. 1995 Mar;12(1):55-8. doi: 10.1111/j.1525-1470.1995.tb00127.x. No abstract available.
PubMed 7792223Superti-Furga A, Spranger J, Nishimura G. Enchondromatosis revisited: new classification with molecular basis. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):154-64. doi: 10.1002/ajmg.c.31331. Epub 2012 Jul 12.
PubMed 22791316Saiji E, Pause FG, Lascombes P, Cerato Biderbost C, Marq NL, Berczy M, Merlini L, Rougemont AL. IDH1 immunohistochemistry reactivity and mosaic IDH1 or IDH2 somatic mutations in pediatric sporadic enchondroma and enchondromatosis. Virchows Arch. 2019 Nov;475(5):625-636. doi: 10.1007/s00428-019-02606-9. Epub 2019 Jun 25.
PubMed 31240473Pansuriya TC, Kroon HM, Bovee JV. Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol. 2010 Jun 26;3(6):557-69.
PubMed 20661403Herget GW, Strohm P, Rottenburger C, Kontny U, Krauss T, Bohm J, Sudkamp N, Uhl M. Insights into Enchondroma, Enchondromatosis and the risk of secondary Chondrosarcoma. Review of the literature with an emphasis on the clinical behaviour, radiology, malignant transformation and the follow up. Neoplasma. 2014;61(4):365-78. doi: 10.4149/neo_2014_046.
PubMed 24645839Pansuriya TC, Oosting J, Krenacs T, Taminiau AH, Verdegaal SH, Sangiorgi L, Sciot R, Hogendoorn PC, Szuhai K, Bovee JV. Genome-wide analysis of Ollier disease: Is it all in the genes? Orphanet J Rare Dis. 2011 Jan 14;6:2. doi: 10.1186/1750-1172-6-2.
PubMed 21235737Silve C, Juppner H. Ollier disease. Orphanet J Rare Dis. 2006 Sep 22;1:37. doi: 10.1186/1750-1172-1-37.
PubMed 16995932Tsao YP, Tsai CY, Chen WS. Maffucci Syndrome. J Rheumatol. 2015 Dec;42(12):2434-5. doi: 10.3899/jrheum.150216. No abstract available.
PubMed 26628708
Study at a glance
From the registry record, last updated by the sponsor on 20 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Registry of Ollier Disease and Maffucci Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Treatment, Quality of Life Data. Data is Linked to Patients' Biological Samples, When Available
- ClinicalTrials.gov ID
- NCT04134572
- Acronym / sponsor ID
- ROM / 378/2017
- Conditions
- Ollier Disease, Maffucci Syndrome
- Keywords
- Disease Registry, Natural History Study, Disease Evolution
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- Luca SangiorgiUniversity, hospital or other
- Study start
- 16 Jan 2017 (actual)
- Primary completion
- Jan 2032 (estimated)
- Study completion
- Jan 2032 (estimated)
- First posted
- 22 Oct 2019 (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.
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.
Detailed description
The traditional method of collecting patient information is often chaotic, inconvenient and sometimes even unsafe, particularly when dealing with rare diseases. In 2017, the need to simplify the diagnostic process and to overcome the difficulties of data storage and analysis, led to the suggestion of implementing the Registry of Ollier Disease and Maffucci Syndrome (ROM).
The ROM relies on an IT platform named Genotype-phenotype Data Integration platform - GeDI. This solution, realized by a collaboration among Medical Genetic Department and a local software-house (Dilaxia Spa), is a General Data Protection Regulation (GDPR)-compliant, multi-client, web-accessible system and it has been designed according to current medical informatics standards (Orphanet code, ICD-10, Human Genome Variants Society, Findability Accessibility Interoperability Reusability Principles). GeDI is continuously implemented to improve management of persons with Ollier Disease and Maffucci Syndrome and to help researchers in analyzing collected information. ROM is articulated in main sections:
- Personal data: it comprises general information, birth details and residence data;
- Patient data: including the patients internal code, the hospital code and other patient details;
- Diagnostic Process: the diagnosis, the status (affected, suspected, etc.), age at diagnosis, comorbidities, allergies, etc.;
- Genogram: a tool for designing the family transmission of the disease, alongside information on the disease status of all relatives included;
- Clinical events: it records a long list of signs and symptoms of Ollier Disease and Maffucci Syndrome as well as several additional items to describe the disease
- Genetic Analysis and Alteration: including analytical technique, sample information, analysis duration, etc. This section also comprises detailed information on any detected pathological variants (e.g. gene, international reference, DNA change, protein change, genomic position, etc.);
- Visits: this section includes visit type (genetic, orthopedic, rehabilitation, pediatric, etc.), the date of the visit, prescriptions, imaging, etc.;
- Treatments: this section comprises information of a wide range of treatments including pharmacological, devices, supplements, and other treatments such as psychological, nutritional, etc.;
- Surgeries: this section contains information on the type of surgeries, the age of the patients, the site/localization of the procedures, etc.
- Documents: this repository allow us to store all types of documents (radiological reports, imaging, consents, clinical reports, etc.);
- Consents: this section provides a comprehensive overview of all consents collected, including the collection date;
- Samples: this section includes information on the samples, like the type, date of collection, etc.
- PROs: this section collects information on patients reported outcomes such as the quality of life or ABC scale.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 25 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Ollier Disease and Maffucci Syndrome patients | – | –The group comprises all patients affected by Ollier Disease and Maffucci Syndrome. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All patients affected by Ollier Disease and Maffucci Syndrome
Key inclusion criteria (1 listed)
- All patients affected by Ollier Disease and Maffucci Syndrome
Key exclusion criteria (1 listed)
- Any condition unrelated to Ollier Disease and/or Maffucci Syndrome
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Natural History and Epidemiology in terms of clinical, genetic and functional evaluation
Time frame: 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.
1 secondary outcome
Genotype-Phenotype Correlation among clinical features and eventual molecular background
Time frame: 25 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Nov 2025.
- Background: PubMed 7792223Bertucci V, Krafchik BR. What syndrome is this? Ollier disease + vascular lesions: Maffucci syndrome. Pediatr Dermatol. 1995 Mar;12(1):55-8. doi: 10.1111/j.1525-1470.1995.tb00127.x. No abstract available.
- Background: PubMed 22791316Superti-Furga A, Spranger J, Nishimura G. Enchondromatosis revisited: new classification with molecular basis. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):154-64. doi: 10.1002/ajmg.c.31331. Epub 2012 Jul 12.
- Background: PubMed 31240473Saiji E, Pause FG, Lascombes P, Cerato Biderbost C, Marq NL, Berczy M, Merlini L, Rougemont AL. IDH1 immunohistochemistry reactivity and mosaic IDH1 or IDH2 somatic mutations in pediatric sporadic enchondroma and enchondromatosis. Virchows Arch. 2019 Nov;475(5):625-636. doi: 10.1007/s00428-019-02606-9. Epub 2019 Jun 25.
- Background: PubMed 20661403Pansuriya TC, Kroon HM, Bovee JV. Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol. 2010 Jun 26;3(6):557-69.
- Background: PubMed 24645839Herget GW, Strohm P, Rottenburger C, Kontny U, Krauss T, Bohm J, Sudkamp N, Uhl M. Insights into Enchondroma, Enchondromatosis and the risk of secondary Chondrosarcoma. Review of the literature with an emphasis on the clinical behaviour, radiology, malignant transformation and the follow up. Neoplasma. 2014;61(4):365-78. doi: 10.4149/neo_2014_046.
- Background: PubMed 21235737Pansuriya TC, Oosting J, Krenacs T, Taminiau AH, Verdegaal SH, Sangiorgi L, Sciot R, Hogendoorn PC, Szuhai K, Bovee JV. Genome-wide analysis of Ollier disease: Is it all in the genes? Orphanet J Rare Dis. 2011 Jan 14;6:2. doi: 10.1186/1750-1172-6-2.
- Background: PubMed 16995932Silve C, Juppner H. Ollier disease. Orphanet J Rare Dis. 2006 Sep 22;1:37. doi: 10.1186/1750-1172-1-37.
- Background: PubMed 26628708Tsao YP, Tsai CY, Chen WS. Maffucci Syndrome. J Rheumatol. 2015 Dec;42(12):2434-5. doi: 10.3899/jrheum.150216. No abstract available.
- Institutional webpage of Registries For Rare Hereditary DiseasesLink provided by the sponsor.
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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.
Luca Sangiorgi, MD, PhD, MS 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 Ollier Disease and Maffucci Syndrome, run by Luca Sangiorgi 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 1 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: looking for participants now, as of the sponsor's last update on 20 Nov 2025. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Marina Mordenti, PhD (+39 05 6366062, registri.malattierare@ior.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Natural History and Epidemiology in terms of clinical, genetic and functional evaluation (time frame: 25 years). 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 NCT04134572, which also lists 8 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 20 Nov 2025.