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Clinical Trials in Italy / NCT05247645
Recruiting Observational

Data Collection of Patients With Rare Bone Diseases

NCT05247645 · tracked via the Priya Life Science Italy tracker
Sponsor
Luca Sangiorgi
Phase
Observational
Started
2020-10-10
Last updated
2025-11-20

Condition(s) studied

Skeletal Dysplasia

Study summary

RD-DATA is a retrospective and prospective data collection, finalized for care and research purposes. 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 developed to corroborate and integrate data from different sources and evaluating several 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
No
Inclusion Criteria: * All patients affected by rare diseases with predominantly skeletal involvement Exclusion Criteria: * Any condition unrelated to rare diseases with predominantly skeletal involvement

Primary outcome measure(s)

  • Natural History and Epidemiology in terms of clinical, genetic and functional evaluation — Since the disease is rare, the timeframe is strictly related to patients enrolment and consequently to amount of collected data. A 10 years period will probably answer general issues.
    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 signs and symptoms, 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 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

More Luca Sangiorgi trials in Italy

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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 NCT05247645 on ClinicalTrials.gov ↗ ← All trials in Italy