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

San Donato Group (GSD)

Status: Not yet enrolling

Conditions: Marfan Syndrome; Mineral Density; Ehlers-Danlos Syndrome (EDS)

Study type: Observational

Funder types: Other

Identifiers

NCT07169669

BONE

Details and patient eligibility

About

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.

Enrollment: 150 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

150 participants in 2 patient groups

Marfan group

Description:

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

Ehlers Danlos group

Description:

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