Registry for Ollier Disease and Maffucci Syndrome
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
Run by Istituto Ortopedico Rizzoli · NCT04134572 · Data updated 2026-11-12
This study is creating a registry to gather information from people with Ollier Disease and Maffucci Syndrome to help understand these rare conditions better and improve diagnosis and research.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 400 (estimated) |
| Sponsor | Istituto Ortopedico Rizzoli Academic / other |
| Locations | 1 site (Bologna, Emilia-Romagna) |
| Status | Recruiting |
| Started | January 16, 2017 |
| Main results expected | January 2032 |
| Study ends | January 2032 |
| Registry record updated | November 20, 2025 |
| Trial ID | NCT04134572 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this registry are individuals diagnosed with Ollier Disease or Maffucci Syndrome.
✕Probably not a fit
Patients with conditions unrelated to Ollier Disease or Maffucci Syndrome will not benefit from this registry.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This registry collects and integrates data on patients with Ollier Disease and Maffucci Syndrome to better understand the diseases' natural history and genetic correlations. It utilizes a web-accessible IT platform, GeDI, to streamline data collection and analysis, ensuring compliance with data protection regulations. The registry includes personal, clinical, genetic, and genealogical information, allowing for a comprehensive view of each patient's condition and family history. This approach aims to simplify the diagnostic process and enhance research into the pathophysiology of these rare diseases.
Why it matters
Potential benefit: If successful, this registry could lead to improved understanding and management of Ollier Disease and Maffucci Syndrome, ultimately benefiting patients through better diagnosis and treatment options.
How similar studies have gone: While registries for rare diseases are common, this specific approach utilizing a comprehensive data integration platform is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * All patients affected by Ollier Disease and Maffucci Syndrome Exclusion Criteria: * Any condition unrelated to Ollier Disease and/or Maffucci Syndrome
Where it's running
-
Irccs Istituto Ortopedico Rizzoli
Bologna, Emilia-Romagna, Italy Recruiting
Study contacts
- Principal investigator: Luca Sangiorgi, MD, PhD, MS — Istituto Ortopedico Rizzoli
- Study coordinator: Marina Mordenti, PhD
- Email: registri.malattierare@ior.it
- Phone: +39 05 6366062
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.