An observational study in Connective Tissue Disorders, Osteogenesis Imperfecta and Bone Diseases, Metabolic, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Completed at 1 site in United States. Open to participants aged Up to 70 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-29.
Sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Observational
This study offers evaluation and treatment of patients with a suspected connective tissue disorder. The protocol is not designed to test new treatments; rather, patients receive standard care. The study is designed to: 1) allow NICHD's staff to learn more about connective tissue disorders, 2) train physicians in the evaluation and treatment of these disorders; and 3) establish a pool of patients who may be eligible for other NICHD protocols for connective tissue disorders. (Participants in this protocol will not be required to join another study; the decision will be voluntary.)
Patients of all ages with a suspected connective tissue disorder and their unaffected family members may be eligible for this study.
Participants undergo diagnostic procedures that may include a medical history, physical examination, X-ray studies, eye examinations, and blood drawing, as well as other specialized tests, when needed. Additional tests may include:
This protocol seeks to formalize the application of accepted diagnostic and therapeutic measures in the study of individuals with known or suspected bone-related connective tissue disorders, including Osteogenesis Imperfecta and melorheostosis. It is our intent to attract a broad array of such individuals for the purposes indicated above. This protocol will also serve as a basis for permitting collaborations with other investigators regarding rare, illustrative, or poorly defined human diseases.
84 studies on the registry are indexed under Osteogenesis Imperfecta; 20 are open to participants now.
This study's enrollment of 180 is above the median of 75 across 23 observational studies indexed under Osteogenesis Imperfecta.
Browse Osteogenesis Imperfecta studies →Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is the lead sponsor of 422 studies on the registry; 24 are open to participants now.
Of its 14 completed or terminated interventional studies of FDA-regulated products, 11 (79%) have results posted.
Compared within Osteogenesis Imperfecta, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Connective Tissue Diseases. The counts are of registry records indexed under each term, refreshed daily. How we classify →
Minimal limit on gender, geographical location (able to travel to NIH), race/ethnicity, age (from birth to 70 years old).
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Individuals with a suspected bone-related connective tissue disorder, as indicated by signs including, but not limited to, fractures, low bone density, asymmetric overgrowth of long bone
OR
Apparently unaffected, healthy family members of individuals with a suspected bone-related connective tissue disorder.
Ages to be enrolled are from 0-70 years old, with only viable neonates accepted at age 0 years.
EXCLUSION CRITERIA:
Individuals who, in the opinion of the Investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation.
For both affected individuals and apparently healthy family members, no exclusions are based on age, gender, ethnicity or race, religion, or English-language ability. Those who are pregnant, whether affected or unaffected, will be excluded from any exam that includes
radiation, but not excluded from the study overall.
All patients enrolled, as this is an evaluation/diagnostic study
Evaluation and Diagnosis
Evaluation of individuals with suspected bone-related connective tissue disorders and their family members
Time frame: per individual cases
Biospecimens collection
Collection of biospecimens for use in clinical and basic science research of bone-related connective tissue disorders and controls
Time frame: 12/31/2030
Plan to share: No — The intention of this study is for individualized, very rare explorations of conditions that may lead to clearer diagnoses for patients and/or open up avenues of further study by qualification for other trials by providing diagnosis or clinical information relevant to that disease process such as osteogenesis imperfecta or melorheostosis studies. It also allows for family member analysis of these genetic conditions for those apparently unaffected. It is considered a screening study. The IPD will not be shared as a cohort, though individual plans will be made later for those whose case studies would be published directly from data received on this protocol.
Started May 2004 (actual).
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Jan 2026. You cannot join it, but the record below documents what was studied.
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Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) →