Actively Recruiting
Clinical and Laboratory Study of Rare Skeletal Disorders
Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2026-05-27
100
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying rare skeletal disorders, which include many conditions affecting the bones that are not well understood and often lack specific treatments. The goal is to better understand the causes and progression of these disorders over time by collecting clinical and genetic data. This observational clinical and laboratory study allows participants to contribute remotely or in person, supporting a comprehensive evaluation of skeletal disorders, including known and unknown genetic causes. Participants include individuals with known or suspected skeletal disorders involving phosphate metabolism, skeletal overgrowth, or those with pregnancies affected by skeletal findings, as well as their healthy family members. The study collects medical records, blood, saliva, urine, and tissue samples for genetic testing and research. Those aged 2 years and older may have imaging scans like X-rays. Participants visiting the clinic may undergo physical exams, biopsies, photographs, and hospital stays for additional tests. Some samples may be used to create stem cells for research. Participants will be involved indefinitely, with ongoing data collection and evaluations. Researchers will review medical history, perform genetic tests, imaging, and laboratory studies, and monitor changes over time using photos and clinical observations. The primary outcome is to identify genetic causes and genotype-phenotype links, while secondary outcomes include describing the natural history of these disorders. This long-term study is designed to deepen understanding and support future research in skeletal disorders.
CONDITIONS
Brief Title
Study of Skeletal Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Have a known or suspected skeletal disorder, findings linked to skeletal abnormalities, or history of pregnancy affected by skeletal findings
- Be 2 months of age or older
- Willing to comply with study procedures and available for the study duration
- Able to understand and sign informed consent (or have a parent/guardian provide consent)
- For unaffected participants: be a family member of an enrolled affected individual
You will not qualify if you...
- Unable or unwilling to follow study procedures
- Insufficient signs or risk for skeletal disease (for affected subjects)
- Signs of skeletal disease (for unaffected subjects)
- Currently pregnant
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or remote)
Duration - Ongoing during study participation
Participants undergo clinical and laboratory evaluations including genetic testing to identify and study rare skeletal disorders.
Visits as needed for clinical evaluations and specimen collection
Duration - Up to study completion date (July 2027)
Participants are observed over time to describe the natural history of individual skeletal disorders.
Follow-up visits depending on individual condition and study requirements
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
H
Holly E Babcock
C
Carlos R Ferreira Lopez, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
Frequently Asked Questions
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