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Scientists launch study to unlock mysteries of rare bone diseases

NCT ID NCT05031507

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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jul 21, 2026 · Updated 2 times

Summary

This study aims to learn more about rare skeletal disorders by collecting medical records, blood samples, and genetic data from 100 participants. People with known or suspected bone conditions, as well as their healthy family members, can join either remotely or in person. The goal is to better understand the causes and progression of these disorders over time.

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

Jan 2022

Expected to finish

Jul 2027

An estimate. End dates often move.

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

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 cohort will include individuals with known (via clinical, radiographic or molecular diagnosis) or suspected skeletal disorders, findings associated with or increasing risk for skeletal abnormalities, or history of pregnancy affected by skeletal findings.

Ages

2 months to 100 years

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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: Our study population will support the mission and scientific focus of the Unit on Skeletal Genomics. We will focus enrollment of subjects (and their relatives) who fall within one of the below categories: * Individuals with a skeletal disorder that affects phosphate levels and/or metabolism * Individuals with a skeletal disorder associated with skeletal overgrowth * Individuals with a skeletal disorder or history of pregnancy affected by skeletal findings with an unknown molecular basis or unknown etiology In addition to noting the above, to be eligible to participate in this study as an affected subject, an individual must meet all of the following criteria: 1. Have a known (via clinical, radiographic or molecular diagnosis) or suspected skeletal disorder, findings associated with or increasing risk for skeletal abnormalities, or history of pregnancy affected by skeletal findings 2. State willingness to comply with study procedures and availability for the duration of the study 3. Be age 2 months or older 4. Be able to understand and sign informed consent document (or availability of a parent/guardian or LAR to provide written consent) In order to be eligible to participate in this study as an unaffected subject, an individual must meet all of the following criteria: 1. Be an unaffected family member of an affected enrolled subject 2. State willingness to comply with study procedures and availability for the duration of the study 3. Be age 2 months or older 4. Be able to understand and sign informed consent document (or availability of a parent/guardian) EXCLUSION CRITERIA: The below describe exclusion criteria for an individual to participate as an affected subject: 1. An individual who cannot or is unwilling to abide by the procedures of the protocol. 2. An individual deemed to not have sufficient signs of or risks for skeletal disease. 3. An individual who is pregnant. The below describe exclusion criteria for an individual to participate as an unaffected subject: 1. An individual who cannot or is unwilling to abide by the procedures of the protocol. 2. An individual that shows signs of skeletal disease. 3. An individual who is pregnant.

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Conditions

The condition(s) this trial relates to.

Dwarfism Mucopolysaccharidosis IV skeletal system disorder

As listed by the trial registrant

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

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

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States