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Scientists hunt for genetic clues to rare bone and skin disease

NCT ID NCT07081880

Knowledge-focused Sponsor: Fondation Hôpital Saint-Joseph Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
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 Results may not be published yet.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.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study aims to uncover the genetic and immune factors behind SAPHO syndrome, a rare chronic condition causing bone inflammation and skin issues. Researchers will collect DNA and cells from 100 adults diagnosed with SAPHO to compare their genetic makeup with the general population. The goal is to better understand what causes the disease and why it varies so much between patients, which could eventually lead to more accurate diagnosis and tailored treatments.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this research could uncover genetic markers that help diagnose SAPHO syndrome more accurately and point toward more personalized treatments.
What could go wrong
This is an observational study, not a treatment trial. It may not lead directly to new therapies, and results may take years to translate into clinical practice.

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 100 people

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

Started

Jul 2025

Expected to finish

May 2035

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

patient diagnosed with SAPHO syndrome

Ages

18 years and older

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: * Patient aged ≥ 18 years * Patient diagnosed with SAPHO syndrome * Weight \> 35 kg * Patient affiliated with a health insurance plan * French-speaking patient * Patient who has given free, informed, and written consent Exclusion Criteria: * Patient under guardianship or curatorship * Patient deprived of liberty * Patient under legal protection * Pregnant or breastfeeding patient

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Conditions

The condition(s) this trial relates to.

SAPHO syndrome

As listed by the trial registrant

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

Sapho syndrome

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    2 sites. The list below names each one and where it is.

  2. The official record

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

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Hôpital Cochin

    RECRUITING

    Paris, France

  • Hôpital Paris Saint Joseph

    RECRUITING

    Paris, France

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