Skeletal DysplasiaRD-DATANCT05247645
Data Collection of Patients With Rare Bone Diseases
An observational study of Skeletal Dysplasia, run by Luca Sangiorgi at 1 site in Italy.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Skeletal Dysplasia
- How many people
- 1,000 participants
- Where
- 1 siteItaly
- Study dates
- 10 Oct 2020to 9 Oct 2045
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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
Who may be able to join
- All patients affected by rare diseases with predominantly skeletal involvement
Who cannot join
- Any condition unrelated to rare diseases with predominantly skeletal involvement
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
Irccs Istituto Ortopedico Rizzoli
Bologna, Emilia-Romagna, 40136
Marina Mordenti, PhD, +39 051 6366062, registri.malattierare@ior.it
Marcella Lanza, PhD, +39 051 6366169, registri.malattierare@ior.it
About this study
Official title: Structured Collection of Data Relating to Rare Diseases With Predominantly Skeletal Involvement
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.
Read the detailed description
The traditional method of collecting patient information is frequently chaotic, inconvenient and sometimes even unsafe, particularly when dealing with rare diseases. In 2020, the need to simplify the diagnostic process and to overcome the difficulties of data storage and analysis, led to the suggestion of implementing the Data Collection of Patients With Rare Bone Diseases - RD-DATA.
The RD-DATA relies on an IT platform named Genotype-phenotype Data Integration platform (GeDI).This solution, realized by a collaboration among Rare Skeletal Disorders Department and a local software-house (Dilaxia Spa) is a General Data Protection Regulation (GDPR)-compliant, multi-client, web-accessible system and it has been designed according to current medical informatics standards (Orphanet code, ICD-10 (International Disease Classification), Human Genome Variants Society). GeDI is continuously implemented to improve management of persons with rare conditions with predominantly skeletal involvement and to help researchers in analysing collected information. RD-DATA is articulated in main sections:
Personal data: it comprises general information, birth details and residence data; Patient data: including the patients internal code, the hospital code and other details on patients; Diagnostic Process: the diagnosis, the status (affected, suspected, etc.), age at diagnosis, comorbidities, allergies, etc.; Genogram: a tool for designing family transmission of the disease, alongside information on the diseases status of all relatives included.
Clinical events: it records a long list of signs and symptoms as well as several additional items to describe the disease Genetic Analysis and Alteration: including technique, sample information, analysis duration, etc. In addition, this section comprises detailed information on detected pathological variants (gene, international reference, DNA change, Protein change, genomic position, etc.).
Visits: it includes the typology of the visit (genetic, orthopedic, rehabilitation, pediatric, etc.), the date of the visit, treatment, prescription, imaging, etc.
Treatments: this section comprises information of a wide range of treatments including pharmacological, devices, supplements, and other treatments such as psychological, nutritional, etc.; Documents: this repository allow us to store all types of documents (radiological reports, imaging, consents, clinical reports, etc.); Consents: this section provides a comprehensive overview of all consents collected, including the collection date; Samples: this section includes information on the samples, like the type, date of collection, etc.; PROs: this section collects information on patients reported outcomes such as the quality of life or ABC scale.
- Conditions
- Skeletal Dysplasia
- Keywords
- Rare Disease with predominantly skeletal involvement, Disease Evolution, Data Collection, Natural History Study
- Medical subject headings
- Mucopolysaccharidosis IV
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Rare diseases with predominantly skeletal involvement | The group comprises all patients affected by rare diseases with predominantly skeletal involvement |
What is being measured
The primary outcome is the main question the study is designed to answer.
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:
- physical examinations data: assessment of severity of the disease
- 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)
- surgical procedures: type, number and site of surgeries disease-related and age at surgeries
- genetics background: target gene, type of mutation, type of variant detected, clinical significance
- family history: inheritance in maternal or paternal line
- 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.
Measured: 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
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.
Measured: 25 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Feb 2022
- Study start10 Oct 2020
- Primary completion9 Oct 2045 (estimated)
- Study completion9 Oct 2045 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Skeletal DysplasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Luca Sangiorgi
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Luca Sangiorgi, Istituto Ortopedico Rizzoli
- Investigators
- Luca Sangiorgi, MD, PhD, Principal investigator, IRCCS istituto Ortopedico Rizzoli
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05247645
- Sponsor's protocol ID
- 792/2020/Oss/IOR
- Acronym
- RD-DATA
- Status last verified
- Nov 2025
- First submitted
- 9 Feb 2022
- Last updated
- 20 Nov 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Structured Collection of Data Relating to Rare Diseases With Predominantly Skeletal Involvement
- ClinicalTrials.gov ID
- NCT05247645
- Acronym / sponsor ID
- RD-DATA / 792/2020/Oss/IOR
- Conditions
- Skeletal Dysplasia
- Keywords
- Rare Disease with predominantly skeletal involvement, Disease Evolution, Data Collection, Natural History Study
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Luca SangiorgiUniversity, hospital or other
- Study start
- 10 Oct 2020 (actual)
- Primary completion
- 9 Oct 2045 (estimated)
- Study completion
- 9 Oct 2045 (estimated)
- First posted
- 21 Feb 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
The traditional method of collecting patient information is frequently chaotic, inconvenient and sometimes even unsafe, particularly when dealing with rare diseases. In 2020, the need to simplify the diagnostic process and to overcome the difficulties of data storage and analysis, led to the suggestion of implementing the Data Collection of Patients With Rare Bone Diseases - RD-DATA.
The RD-DATA relies on an IT platform named Genotype-phenotype Data Integration platform (GeDI).This solution, realized by a collaboration among Rare Skeletal Disorders Department and a local software-house (Dilaxia Spa) is a General Data Protection Regulation (GDPR)-compliant, multi-client, web-accessible system and it has been designed according to current medical informatics standards (Orphanet code, ICD-10 (International Disease Classification), Human Genome Variants Society). GeDI is continuously implemented to improve management of persons with rare conditions with predominantly skeletal involvement and to help researchers in analysing collected information. RD-DATA is articulated in main sections:
Personal data: it comprises general information, birth details and residence data; Patient data: including the patients internal code, the hospital code and other details on patients; Diagnostic Process: the diagnosis, the status (affected, suspected, etc.), age at diagnosis, comorbidities, allergies, etc.; Genogram: a tool for designing family transmission of the disease, alongside information on the diseases status of all relatives included.
Clinical events: it records a long list of signs and symptoms as well as several additional items to describe the disease Genetic Analysis and Alteration: including technique, sample information, analysis duration, etc. In addition, this section comprises detailed information on detected pathological variants (gene, international reference, DNA change, Protein change, genomic position, etc.).
Visits: it includes the typology of the visit (genetic, orthopedic, rehabilitation, pediatric, etc.), the date of the visit, treatment, prescription, imaging, etc.
Treatments: this section comprises information of a wide range of treatments including pharmacological, devices, supplements, and other treatments such as psychological, nutritional, etc.; Documents: this repository allow us to store all types of documents (radiological reports, imaging, consents, clinical reports, etc.); Consents: this section provides a comprehensive overview of all consents collected, including the collection date; Samples: this section includes information on the samples, like the type, date of collection, etc.; PROs: this section collects information on patients reported outcomes such as the quality of life or ABC scale.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Rare diseases with predominantly skeletal involvement | – | –The group comprises all patients affected by rare diseases with predominantly skeletal involvement |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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
Key inclusion criteria (1 listed)
- All patients affected by rare diseases with predominantly skeletal involvement
Key exclusion criteria (1 listed)
- Any condition unrelated to rare diseases with predominantly skeletal involvement
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Natural History and Epidemiology in terms of clinical, genetic and functional evaluation
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.
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.
1 secondary outcome
Genotype-Phenotype Correlation among clinical features and eventual molecular background
Time frame: 25 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Nov 2025.
- Rare Skeletal Disorders Department websiteLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Luca Sangiorgi, MD, PhD principal investigator
IRCCS istituto Ortopedico Rizzoli
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Skeletal Dysplasia, run by Luca Sangiorgi at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 20 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Marina Mordenti, PhD (0516366062, registri.malattierare@ior.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Natural History and Epidemiology in terms of clinical, genetic and functional evaluation (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.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Nov 2025.