NCT05247645|Recruiting
Data Collection of Patients With Rare Bone Diseases
RD-DATA
Structured Collection of Data Relating to Rare Diseases With Predominantly Skeletal Involvement
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RD-DATA
Structured Collection of Data Relating to Rare Diseases With Predominantly Skeletal Involvement
Sponsor study identifier
observational
1,000
1 country
1
Study Start
October 10, 2020
Actual (reported)Primary Completion
October 9, 2045
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
October 9, 2045
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
October 9, 2045
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
October 10, 2020
Actual (reported)February 9, 2022
Actual (reported)February 21, 2022
Actual (reported)October 9, 2045
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
October 9, 2045
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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 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.
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.
Genotype-Phenotype Correlation among clinical features and eventual molecular background
25 years
Longitudinal study of disease evolution (including prospective and retrospective data)
25 years
The group comprises all patients affected by rare diseases with predominantly skeletal involvement
The population has been individuated as all the patients in charge to Rare Skeletal Disorders Department affected by rare diseases with predominantly skeletal involvement
Irccs Istituto Ortopedico Rizzoli
Bologna, Emilia-Romagna, 40136, Italy
Whole peripheral blood, DNA, lymphocytes, saliva
Luca Sangiorgi, MD, PhD
IRCCS istituto Ortopedico Rizzoli
First Submitted
February 9, 2022
First Posted
February 21, 2022
Study Start
October 10, 2020
Actual (reported)Primary Completion
October 9, 2045
EstimatedContact the study team to confirm eligibility.
Planned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
October 9, 2045
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
November 20, 2025
Record last verified: 2025-11
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Source: ClinicalTrials.gov.
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