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Can a patient registry unlock the secrets of a rare bone disorder?

NCT ID NCT04569162

Knowledge-focused Sponsor: Nemours Children's Clinic 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Aug 07, 2026 · Last updated Aug 07, 2026

Summary

This study creates a registry to collect medical information from people with rhizomelic chondrodysplasia punctata (RCDP) and closely related conditions. The goal is to better understand the natural history of these rare disorders and identify factors that may predict health outcomes. By gathering data over time, researchers hope to improve care and quality of life for affected individuals.

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
This registry could help doctors better understand RCDP, identify risk factors, and improve care and quality of life for those affected.
What could go wrong
As a registry, it does not test a treatment, so it may not directly lead to new therapies. Its impact depends on the data collected and future research.

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

May 2013

Expected to finish

Jan 2030

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

Any individual at any age with rhizomelic chondrodysplasia punctata or a closely related condition

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: * Diagnosed with RCDP or closely related conditions by metabolic and/or genetic testing Exclusion Criteria: * Not meeting diagnosis of RCDP or closely related conditions by study team physician review of prior metabolic and/or genetic testing

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Conditions

The condition(s) this trial relates to.

rhizomelic chondrodysplasia punctata rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 rhizomelic chondrodysplasia punctata type 5 Rhizomelic chondrodysplasia punctata, type 1

As listed by the trial registrant

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

RCDP - rhizomelic chondrodysplasia punctata RCDP1 RCDP2 RCDP3 RCDP4 RCDP5

How to take part

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

  1. The places running it

    1 site. 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

  • Nemours

    RECRUITING

    Wilmington, Delaware, 19803, United States

More trials for these conditions

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