Research on skeletal disorders and their causes
Clinical and Laboratory Study of Rare Skeletal Disorders
This study is trying to understand the causes of bone health issues by collecting information from people with these disorders and their healthy family members.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 2 Months to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT05031507 on ClinicalTrials.gov |
What this trial studies
This observational study aims to gather comprehensive data on skeletal disorders, which encompass a wide range of conditions affecting bone health. Participants, including those with known or suspected skeletal disorders and their healthy family members, will provide medical records, biological samples, and undergo imaging scans. The study will utilize both retrospective and prospective methods to explore genetic factors and the natural history of these disorders. Data collected will help define genetic etiologies and establish genotype-phenotype correlations.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 2 months or older with known or suspected skeletal disorders, as well as healthy family members of affected participants.
Not a fit: Patients with skeletal disorders that are well understood and have established treatments may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to a better understanding of skeletal disorders, potentially informing future treatments and management strategies.
How similar studies have performed: While there have been studies on specific skeletal disorders, this comprehensive approach to understanding a wide range of skeletal conditions is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
* 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Carlos R Ferreira Lopez, M.D. — Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study coordinator: Holly E Babcock
- Email: holly.babcock@nih.gov
- Phone: (301) 594-3391
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.