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Study of Skeletal Disorders

This study aims to learn more about skeletal disorders, which are conditions affecting the bones. Researchers want to understand the genetic causes of these disorders and how they develop over time. There are no specific treatments being tested; instead, the study focuses on collecting information to better understand these conditions. You might be able to join if you are 2 months or older and have a known or suspected skeletal disorder, or if you are a healthy family member of someone in the study. The main goal is to identify the genetic reasons behind skeletal disorders and connect those genetics to the physical symptoms people experience.

Study design
This is an observational study, meaning researchers will collect information without giving any specific treatments. It plans to enroll 100 participants and can be done remotely or in person.
What's involved
You may be asked to send in medical records, blood samples, photographs, and other materials. Your medical records will also be reviewed.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint, defining genetic causes and genotype-phenotype correlations, is measured on an ongoing basis.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT05031507

Study of Skeletal Disorders

Recruiting
Not specifiedAges 2+Observational
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
~100 participants
Updated 2026-07-20 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
To define or further define genetic etiologies of known and unknown skeletal disorders and create genotype-phenotype correlations when possible
Measured over ongoing

Conditions

Skeletal Disorders

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NCT05031507

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • National Institutes of Health Clinical Center

    Bethesda, Marylandstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Carlos R Ferreira Lopez, M.D. · PRINCIPAL_INVESTIGATOR · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Who to contact

Holly E Babcock
[email protected]
(301) 594-3391
Email the study team

Opens a ready-to-send draft in your own email app — review before sending.

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Eligibility criteria

Inclusion

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

What this trial measures

  • To define or further define genetic etiologies of known and unknown skeletal disorders and create genotype-phenotype correlations when possibleongoing

    To define or further define genetic etiologies of known and unknown skeletal disorders and create genotype-phenotype correlations when possible