Registry for Ollier Disease and Maffucci Syndrome
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
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 |
|---|---|
| Enrollment | 400 (estimated) |
| Sex | All |
| Sponsor | Istituto Ortopedico Rizzoli Academic / other |
| Locations | 1 site (Bologna, Emilia-Romagna) |
| Trial ID | NCT04134572 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this registry are individuals diagnosed with Ollier Disease or Maffucci Syndrome.
Not a fit: Patients with conditions unrelated to Ollier Disease or Maffucci Syndrome will not benefit from this registry.
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 performed: While registries for rare diseases are common, this specific approach utilizing a comprehensive data integration platform is relatively novel.
Eligibility criteria
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 this trial is running
Bologna, Emilia-Romagna
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.