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

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.

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Key information

Conditions

Marfan Syndrome Abnormalities, Multiple Bone Diseases Bone Diseases, Developmental Cardiovascular Abnormalities Cardiovascular Diseases Collagen Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome (EDS) Genetic Diseases, Inborn Heart Defects, Congenital Heart Diseases Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Mineral Density Musculoskeletal Diseases Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases Vascular Diseases

Sex eligibility

All sexes

Study type

Observational

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

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.

Secondary outcomes

Objective 2

Time frame: Between 1 September 2019 and 31 January 2025.

Identifying patients with osteoporosis with T-score values below -2.5 SD and z-score values ≤ -2 SD in the paediatric population.
Objective 3

Time frame: Between 1 September 2019 and 31 January 2025.

Identify patients with osteopenia with T scores between -1 and -2.5 SD
Objective 4

Time frame: Between 1 September 2019 and 31 January 2025.
Identify adult patients with TBS values
- TBS values ≤ 1200 (degraded micro-architecture);
- TBS values between 1349 - 1201 (partially degraded micro-architecture).

Study contacts

Contact information is provided by the study sponsor or research team.

Alessandro Pini Alessandro Giorgio Pini,MD, Medical degree

CONTACT

[email protected]

(+39) 02 52774705

Sponsors and collaborators

Lead sponsor

IRCCS Policlinico S. Donato

Other

Collaborators

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Registry information

Acronym: BONE

Important dates

Study start: 2025
Primary completion: 2026
Study completion: 2026
First posted: Sep 12, 2025
Registry last updated: Sep 12, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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