Scientists launch study to unlock mysteries of rare bone diseases
NCT ID NCT05031507
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
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About 100 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Jan 2022
- Expected to finish
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Jul 2027
An estimate. End dates often move.
- Lead sponsor
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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
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2 months to 100 years
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide 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.
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.
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The places running it
1 site. The list below names each one and where it is.
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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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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
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States