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, 2004

Actual 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 enrolled

Total 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.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria

Any sex

Biological sex of participants that are eligible to enroll.

Until 70 Years

Range of ages for which participants are eligible to join.

Healthy volunteers allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

Bone DiseasesBone Diseases, DevelopmentalBone Diseases, MetabolicCollagen DiseasesConnective Tissue DiseasesMelorheostosisMetabolic DiseasesMusculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNutritional and Metabolic DiseasesOsteochondrodysplasiasOsteogenesis ImperfectaOsteosclerosisWounds and InjuriesSkin and Connective Tissue DiseasesGenetic Diseases, InbornFractures, 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

Secondary Objectives

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 Center

Bethesda, United StatesSee the location
CompletedOne Study Center