Multicentre Longitudinal Study of Bone Mineralisation Characteristics in Marfan Syndrome and Ehlers-Danlos Syndrome
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Marfan Syndrome, Ehlers-Danlos Syndrome (EDS), Mineral Density. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Center list to be confirmed — check the primary protocol.
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Primary outcome measures
- Objective 1 [Time frame: Between 1 September 2019 and 31 January 2025.]
Secondary outcome measures (3)
- 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.]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Center list to be confirmed — check the primary protocol.
Identifiers
NCT: NCT07169669 · BONE