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Researchers to examine bone density in rare genetic disorders

NCT ID NCT07169669

Knowledge-focused Sponsor: IRCCS Policlinico S. Donato Source: ClinicalTrials.gov ↗

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Paused for now. It may or may not start again.
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The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
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Cancelled before anyone took part.

Expanded access (not trials)

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Not a trial. The treatment could once be requested outside a study, but no longer can.
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When the status isn't known

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Status unknown
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First seen Jun 26, 2026 · Last updated Jun 26, 2026

Summary

This study will review medical records of 150 people with Marfan syndrome or Ehlers-Danlos syndrome to understand bone mineralization and fracture risk. Researchers will look at past bone density scans and health data to see how bone health changes over time. The goal is to learn more about bone problems in these conditions, not to test a new treatment.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 150 people

The number the study aims to enrol. It can still change while the study runs.

Expected to start

Oct 2025

An estimate. Start dates often move.

Expected to finish

May 2026

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

Ehlers-Danlos syndrome Marfan syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Ehlers-Danlos syndrome (EDS) Marfan syndrome Mineral density

How to take part

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  1. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

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  2. A doctor treating you

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More trials for these conditions

Other studies related to the condition(s) this trial covers.