Multicentre Longitudinal Study of Bone Mineralisation Characteristics in Marfan Syndrome and Ehlers-Danlos Syndrome

NCT ID: NCT07169669

Last Updated: 2025-09-12

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

150 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-10-31

Study Completion Date

2026-05-31

Brief Summary

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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.

Detailed Description

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Conditions

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Marfan Syndrome Ehlers-Danlos Syndrome (EDS) Mineral Density

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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Marfan group

Adult and paediatric subjects with Marfan syndrome referred to the Centre for Cardiovascular Genetic of IRCCS Policlinico San Donato

No interventions assigned to this group

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

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* 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.

Exclusion Criteria

* Presence of prostheses in the spinal column;
* Presence of prostheses in the coxofemoral joint;
* Oncological bone diseases reported in history.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

OTHER

Sponsor Role collaborator

IRCCS Policlinico S. Donato

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Central Contacts

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Alessandro Pini Alessandro Giorgio Pini,MD, Medical degree

Role: CONTACT

(+39) 02 52774705

Other Identifiers

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BONE

Identifier Type: -

Identifier Source: org_study_id

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