Completed

Investigations of Bone-Related Connective Tissue Disorders

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What is being collected

Data Collection

Who is being recruted

Bone Diseases
+14

+ Bone Diseases, Developmental
+ Bone Diseases, Metabolic
Until 70 Years
See all eligibility criteria
How is the trial designed

Cohort

Tracking disease incidence in order to identify risk factors and understand disease progression over time.
Observational
Study Start: May 2004
See protocol details

Summary

Principal SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Last updated: January 17, 2026
Sourced from a government-validated database.Claim as a partner
Study start date: May 18, 2004Actual date on which the first participant was enrolled.

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.

Official TitleInvestigations of Bone-Related Connective Tissue Disorders 
NCT00076830
Principal SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Last updated: January 17, 2026
Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.
Design Details
180 patients to be enrolledTotal number of participants that the clinical trial aims to recruit.
Cohort
These studies follow a group of individuals with common characteristics (such as a condition or birth year) over a specific period to study health outcomes or exposures.

How participants are selected
Participants are selected without using randomization. They may be chosen based on convenience, access, or willingness to participate. This approach is common when random selection isn’t practical.
Another way to select participants is through a probability sample, where participants are chosen randomly, so everyone has an equal chance to be included.

How information is collected
Some studies use alternative or combined approaches that don't fit strictly into prospective, retrospective, or cross-sectional models. These may include hybrid timelines, simulations, or adaptive observational methods.Other Ways to Collect Data
Prospective: These studies collect new data moving forward over time.
Retrospective: These studies use existing medical records or past data.
Cross-sectional: These studies collect data at one single point in time.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria
Any sexBiological sex of participants that are eligible to enroll.
Until 70 YearsRange of ages for which participants are eligible to join.
Healthy volunteers allowedIf individuals who are healthy and do not have the condition being studied can participate.
Conditions
Pathology
Bone Diseases
Bone Diseases, Developmental
Bone Diseases, Metabolic
Collagen Diseases
Connective Tissue Diseases
Melorheostosis
Metabolic Diseases
Musculoskeletal Diseases
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Nutritional and Metabolic Diseases
Osteochondrodysplasias
Osteogenesis Imperfecta
Osteosclerosis
Wounds and Injuries
Skin and Connective Tissue Diseases
Genetic Diseases, Inborn
Fractures, Bone
Criteria

* INCLUSION CRITERIA: 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.

Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.
Study Objectives
Study Objectives
Primary Objectives

Evaluation of individuals with suspected bone-related connective tissue disorders and their family members
Secondary Objectives

Collection of biospecimens for use in clinical and basic science research of bone-related connective tissue disorders and controls

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.
This study has 1 location
Suspended
National Institutes of Health Clinical CenterBethesda, United StatesSee the location
CompletedOne Study Center
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