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Rare disease CACP syndrome under the microscope: new study aims to unlock its secrets

NCT ID NCT07468461

Knowledge-focused Sponsor: Meyer Children's Hospital IRCCS 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study is gathering information from 15 people with CACP syndrome, a rare genetic condition that causes joint problems and sometimes heart issues. Researchers want to better understand how the disease develops and changes over time. The goal is to improve diagnosis and care for patients with this condition.

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 study could lead to a better understanding of CACP syndrome, improving diagnosis and management for patients.
What could go wrong
This is an observational study with only 15 participants, so findings may not apply to all patients. No new treatment is being tested.

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 15 people

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

Started

Aug 2025

Expected to finish

Jan 2038

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

Study population will be selected at the participating centers according to inclusion criteria.

Ages

Up to 18 years

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: * Patients with clinical diagnosis and genetic confirmation of CACP syndrome. * Patients diagnosed during pediatric age (\<18 years). * Time frame: Patients diagnosed with CACP between January 2005 and January 1, 2026. * Informed consent obtained from parents or legal guardians. Exclusion Criteria: * Patients without genetic confirmation of the diagnosis. * Lack of informed consent from parents or legal guardians. * Patients diagnosed before January 1, 2005, or after January 1, 2026.

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Conditions

The condition(s) this trial relates to.

arthropathy camptodactyly of fingers camptodactyly-arthropathy-coxa vara-pericarditis syndrome coxa vara pericarditis syndromic disease

As listed by the trial registrant

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

Arthropathy Camptodactyly Coxa vara Pericarditis

How to take part

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

  1. The places running it

    10 sites in 3 countries. 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

  • ASST Fatebenefratelli

    NOT_YET_RECRUITING

    Milan, Italy

  • Ankara Pediatrik Romatoloji Bilim Dalý Hacettepe Üniversitesi

    NOT_YET_RECRUITING

    Ankara, 06105, Turkey (Türkiye)

  • Azienda Ospedaliera di Padova

    NOT_YET_RECRUITING

    Padova, Italy

  • Centro di Reumatologia Pediatrica

    NOT_YET_RECRUITING

    Udine, Italy

  • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

    RECRUITING

    Milan, Italy

  • Hiospedal Sant Joan de Déu

    NOT_YET_RECRUITING

    Barcelona, 208950, Spain

  • IRCCS Istituto Giannina Gaslini,

    RECRUITING

    Genova, Italy

  • Ospedale Pediatrico Giovanni XXIII

    NOT_YET_RECRUITING

    Bari, Italy

  • Rheumatology Unit, Meyer Children's Hospital

    RECRUITING

    Florence, Italy

  • Santa Maria Goretti Hospital

    NOT_YET_RECRUITING

    Roma, Italy

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