Data Collection of Patients With Rare Bone Diseases

ConditionSkeletal Dysplasia

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

AgeNot listed

SponsorLuca Sangiorgi

About this trial

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 criteria

This trial does not accept healthy volunteers

Qualifiers

All patients affected by rare diseases with predominantly skeletal involvement

Disqualifiers

Any condition unrelated to rare diseases with predominantly skeletal involvement

Trial population

The population has been individuated as all the patients in charge to Rare Skeletal Disorders Department affected by rare diseases with predominantly skeletal involvement

Trial design

Design model

Cohort

Time perspective

Other

Treatments tested in this trial

Not listed

Trial groups

1,000 Participants

are grouped into 1 trial group

Group A: Rare diseases with predominantly skeletal involvement

Trial outcomes

Primary outcomes

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.

Time frame

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.

Secondary outcomes

Genotype-Phenotype Correlation among clinical features and eventual molecular background

The secondary outcome comprises the correlation between 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 and the genetic information resulting from molecular investigations, when available.

Time frame

25 years

Other outcomes

Longitudinal study of disease evolution (including prospective and retrospective data)

This outcome aims to investigate the evolution of the diseases. Main clinical features, such as height (cm), number and localization of signs and symptoms, number and localization of deformities, number and localization of limitations will be collected both retrospectively and prospectively in the entire population via physical examination, clinical reports and imaging. An evaluation of these parameters will be performed at each visit to keep track on the progression of the clinical manifestations.

Time frame

25 years

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Luca Sangiorgi

Lead sponsor

Istituto Ortopedico Rizzoli

Sponsor institution

Source ClinicalTrials.gov

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