Data Collection of Patients With Rare Bone Diseases

NCT05247645 | Recruiting

• 1 other identifier: 792/2020/Oss/IOR
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Skeletal Dysplasia

Keywords

Rare Disease with predominantly skeletal involvement; Disease Evolution; Data Collection; Natural History Study

Outcome Measures

Primary Outcomes (1)

• 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.

Secondary Outcomes (1)

• Genotype-Phenotype Correlation among clinical features and eventual molecular background

  25 years

Other Outcomes (1)

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

  25 years

Study Arms (1)

Rare diseases with predominantly skeletal involvement

The group comprises all patients affected by rare diseases with predominantly skeletal involvement

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study 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

You may qualify if:

• All patients affected by rare diseases with predominantly skeletal involvement

You may not qualify if:

• Any condition unrelated to rare diseases with predominantly skeletal involvement

Sponsors & Collaborators

• Luca Sangiorgi: lead

Study Sites (1)

Irccs Istituto Ortopedico Rizzoli

Bologna, Emilia-Romagna, 40136, Italy

RECRUITING

Related Links

• Rare Skeletal Disorders Department website

Biospecimen

Retention: SAMPLES WITH DNA

Whole peripheral blood, DNA, lymphocytes, saliva

MeSH Terms

Conditions

Mucopolysaccharidosis IV

Condition Hierarchy (Ancestors)

Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Luca Sangiorgi, MD, PhD

  IRCCS istituto Ortopedico Rizzoli

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marina Mordenti, PhD

CONTACT

0516366062; registri.malattierare@ior.it

Marcella Lanza, PhD

CONTACT

0516366169; registri.malattierare@ior.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Head of Department of Rare Skeletal Disorders

Study Record Dates

• First Submitted: February 9, 2022
• First Posted: February 21, 2022
• Study Start: October 10, 2020
• Primary Completion (Estimated): October 9, 2045
• Study Completion (Estimated): October 9, 2045
• Last Updated: November 20, 2025

Record last verified: 2025-11

Locations

IT (1)