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

NCT07169669 | Not Yet Recruiting

• 1 other identifier: BONE
• Study Type: observational
• Target: 150
• Locations: 0 countries
• Sites: N/A

Brief 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. 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.

Conditions

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

Outcome Measures

Primary Outcomes (1)

• 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.

  Between 1 September 2019 and 31 January 2025.

Secondary Outcomes (3)

• Objective 2

  Between 1 September 2019 and 31 January 2025.

• Objective 3

  Between 1 September 2019 and 31 January 2025.

• Objective 4

  Between 1 September 2019 and 31 January 2025.

Study Arms (2)

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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• IRCCS Policlinico S. Donato: lead
• Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico: collaborator

MeSH Terms

Conditions

Marfan Syndrome; Ehlers-Danlos Syndrome

Condition Hierarchy (Ancestors)

Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Hemostatic Disorders; Vascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Skin Diseases, Genetic; Collagen Diseases; Skin Diseases

Central Study Contacts

Alessandro Pini Alessandro Giorgio Pini,MD, Medical degree

CONTACT

(+39) 02 52774705; alessandro.pini@grupposandonato.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 4, 2025
• First Posted: September 12, 2025
• Study Start: October 31, 2025
• Primary Completion: March 31, 2026
• Study Completion (Estimated): May 31, 2026
• Last Updated: September 12, 2025

Record last verified: 2025-09