Marfan SyndromeBONENCT07169669
Multicentre Longitudinal Study of Bone Mineralisation Characteristics in Marfan Syndrome and Ehlers-Danlos Syndrome
An observational study of Marfan Syndrome and Ehlers-Danlos Syndrome (EDS), run by IRCCS Policlinico S. Donato.
Trial summary
The general objective of this research is to evaluate the characteristics of bone mineralisation in patients with Marfan syndrome or Ehlers-Danlos syndrome on a large case series. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Marfan Syndrome, Ehlers-Danlos Syndrome (EDS), Mineral Density
- How many people
- 150 participants
- Where
- No sites listed yet
- Study dates
- 31 Oct 2025to 31 May 2026
- 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: Marfan syndrome is a rare connective tissue disease with autosomal dominant transmission, characterised by altered production of the glycoprotein fibrillin-1 (FBN1), resulting from mutations in the gene encoding it.The complications most associated with the risk of mortality and morbidity are those affecting the cardiovascular system and those affecting the musculoskeletal system (spinal changes and chest deformities). Ehlers-Danlos syndrome has an estimated prevalence of 1:5000 individuals and presents a pathological phenotype affecting the connective tissues that support the integumentary, skeletal, cardiovascular, and other organs and tissues. As in Marfan syndrome, marked alterations in the skeletal system (spine, thorax) and, in the vascular forms, a high risk of aneurysms and aortic and/or small and medium artery dissection, are found in those with Ehlers-Danlos syndrome.
Who may be able to join
- Subjects with Marfan syndrome and Ehlers-Danlos syndrome according to the revised reference criteria belonging to the Cardiovascular genetic center at IRCCS Policlinico San Donato and the Reference Centre for Ehlers-Danlos Syndromes Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico;
- Adult and paediatric subjects who have performed at least one Bone Mineral Densitometry within the observation period of the study.
Who cannot join
- Presence of prostheses in the spinal column;
- Presence of prostheses in the coxofemoral joint;
- Oncological bone diseases reported in history.
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
Alessandro Pini Alessandro Giorgio Pini,MD, Medical degree contact
About this study
The general objective of this research is to evaluate the characteristics of bone mineralisation in patients with Marfan syndrome or Ehlers-Danlos syndrome on a large case series.
In particular we intend to obtain data regarding the characteristics of bone mineralisation, as well as their variation over time and the relationships existing with other clinical-anamnestic parameters, in patients with Marfan syndrome or Ehlers-Danlos syndrome by retrospectively analysing (data already collected for normal clinical practice and already available at the hospital) the case history of the Cardiovascular genetic center at IRCCS Policlinico San Donato and the related Computerized Bone Mineralometry (MOC) examinations performed at the Radiology Service of the same hospital between 1 September 2019 and 31 December 2022.
- Medical subject headings
- Marfan Syndrome, Ehlers-Danlos Syndrome
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 |
|---|---|---|
| Marfan group | Adult and paediatric subjects with Marfan syndrome referred to the Centre for Cardiovascular Genetic of IRCCS Policlinico San Donato | |
| Ehlers Danlos group | Adult and paediatric subjects with Ehlers Danlos Syndrome referred to the Centre for CardioVascular Genetics of IRCCS Policlinico San Donato and the Reference Centre for Ehlers-Danlos Syndromes Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico |
What is being measured
The primary outcome is the main question the study is designed to answer.
Objective 1
To retrospectively evaluate the percentage of subjects with fractures in subjects with Marfan syndrome and Ehlers Danlos syndrome who performed at least one Bone Mineral Densitometry in the period between 1 September 2019 and 31 January 2025.
Measured: Between 1 September 2019 and 31 January 2025.
Secondary outcomes (3)
Objective 2
Identifying patients with osteoporosis with T-score values below -2.5 SD and z-score values ≤ -2 SD in the paediatric population.
Measured: Between 1 September 2019 and 31 January 2025.
Objective 3
Identify patients with osteopenia with T scores between -1 and -2.5 SD
Measured: Between 1 September 2019 and 31 January 2025.
Objective 4
Identify adult patients with TBS values
- TBS values ≤ 1200 (degraded micro-architecture);
- TBS values between 1349 - 1201 (partially degraded micro-architecture).
Measured: Between 1 September 2019 and 31 January 2025.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Sep 2025
- Study start31 Oct 2025 (estimated)
- Primary completion31 Mar 2026 (estimated)
- Study completion31 May 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Marfan SyndromeStudies of the same condition, open and under way.
- More trials run by IRCCS Policlinico S. DonatoThe sponsor's other registered studies.
- 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
- Retrospective
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Policlinico S. Donato
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07169669
- Sponsor's protocol ID
- BONE
- Acronym
- BONE
- Status last verified
- Sep 2025
- First submitted
- 4 Sep 2025
- Last updated
- 12 Sep 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 12 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Multicentre Longitudinal Study of Bone Mineralisation Characteristics in Marfan Syndrome and Ehlers-Danlos Syndrome
- ClinicalTrials.gov ID
- NCT07169669
- Acronym / sponsor ID
- BONE / BONE
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- IRCCS Policlinico S. DonatoUniversity, hospital or other
- Collaborators
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
- Study start
- 31 Oct 2025 (estimated)
- Primary completion
- 31 Mar 2026 (estimated)
- Study completion
- 31 May 2026 (estimated)
- First posted
- 12 Sep 2025 (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.
The general objective of this research is to evaluate the characteristics of bone mineralisation in patients with Marfan syndrome or Ehlers-Danlos syndrome on a large case series.
In particular we intend to obtain data regarding the characteristics of bone mineralisation, as well as their variation over time and the relationships existing with other clinical-anamnestic parameters, in patients with Marfan syndrome or Ehlers-Danlos syndrome by retrospectively analysing (data already collected for normal clinical practice and already available at the hospital) the case history of the Cardiovascular genetic center at IRCCS Policlinico San Donato and the related Computerized Bone Mineralometry (MOC) examinations performed at the Radiology Service of the same hospital between 1 September 2019 and 31 December 2022.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Marfan group | – | –Adult and paediatric subjects with Marfan syndrome referred to the Centre for Cardiovascular Genetic of IRCCS Policlinico San Donato |
| Ehlers Danlos group | – | –Adult and paediatric subjects with Ehlers Danlos Syndrome referred to the Centre for CardioVascular Genetics of IRCCS Policlinico San Donato and the Reference Centre for Ehlers-Danlos Syndromes Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Marfan syndrome is a rare connective tissue disease with autosomal dominant transmission, characterised by altered production of the glycoprotein fibrillin-1 (FBN1), resulting from mutations in the gene encoding it.The complications most associated with the risk of mortality and morbidity are those affecting the cardiovascular system and those affecting the musculoskeletal system (spinal changes and chest deformities). Ehlers-Danlos syndrome has an estimated prevalence of 1:5000 individuals and presents a pathological phenotype affecting the connective tissues that support the integumentary, skeletal, cardiovascular, and other organs and tissues. As in Marfan syndrome, marked alterations in the skeletal system (spine, thorax) and, in the vascular forms, a high risk of aneurysms and aortic and/or small and medium artery dissection, are found in those with Ehlers-Danlos syndrome.
Key inclusion criteria (2 listed)
- Subjects with Marfan syndrome and Ehlers-Danlos syndrome according to the revised reference criteria belonging to the Cardiovascular genetic center at IRCCS Policlinico San Donato and the Reference Centre for Ehlers-Danlos Syndromes Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico;
- Adult and paediatric subjects who have performed at least one Bone Mineral Densitometry within the observation period of the study.
Key exclusion criteria (3 listed)
- Presence of prostheses in the spinal column;
- Presence of prostheses in the coxofemoral joint;
- Oncological bone diseases reported in history.
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
Objective 1
Time frame: Between 1 September 2019 and 31 January 2025.
To retrospectively evaluate the percentage of subjects with fractures in subjects with Marfan syndrome and Ehlers Danlos syndrome who performed at least one Bone Mineral Densitometry in the period between 1 September 2019 and 31 January 2025.
3 secondary outcomes
Objective 2
Time frame: Between 1 September 2019 and 31 January 2025.
Objective 3
Time frame: Between 1 September 2019 and 31 January 2025.
Objective 4
Time frame: Between 1 September 2019 and 31 January 2025.
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 12 Sep 2025.
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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.
Alessandro Pini Alessandro Giorgio Pini,MD, Medical degree contact
Questions about this trial
What is this clinical trial studying?
An observational study of Marfan Syndrome and Ehlers-Danlos Syndrome (EDS), run by IRCCS Policlinico S. Donato.
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 2 inclusion and 3 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: opening soon, as of the sponsor's last update on 12 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
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 Alessandro Pini Alessandro Giorgio Pini,MD, Medical degree ((+39) 02 52774705, alessandro.pini@grupposandonato.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Objective 1 (time frame: Between 1 September 2019 and 31 January 2025.). 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 12 Sep 2025.