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Evaluation and Treatment of Patients With Connective Tissue Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00076830
Recruitment Status : Completed
First Posted : February 4, 2004
Last Update Posted : January 9, 2023
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )

Brief Summary:

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:

  • Blood test for DNA genetic analysis
  • Skin biopsy: Removal of a small piece of tissue for microscopic examination. The area of skin selected for the biopsy is numbed and a small circle of skin, usually from the upper arm, is removed with a surgical cookie cutter-like instrument.
  • Magnetic resonance imaging (MRI): This test uses a strong magnetic field and radio waves to show structural and chemical changes in tissues. The patient lies on a table that slides into a narrow cylinder containing a magnetic field. Ear plugs are worn to muffle loud knocking and thumping sounds that occur with electrical switching of the magnetic fields.
  • Computed tomography (CT) scans: This test allows the doctor to view the organs inside the body in small sections. The patient lies in a doughnut-like machine. Scanning can be done from different angles, allowing a three dimensional picture of the part of the body being studied. It may be done with or without injection of a contrast material.
  • Referral to appropriate sub-specialists when potential complications are found.

Condition or disease
Connective Tissue Disorders Osteogenesis Imperfecta Bone Diseases, Metabolic Melorheostosis

Detailed Description:
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.

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Study Type : Observational
Actual Enrollment : 180 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Investigations of Bone-Related Connective Tissue Disorders
Actual Study Start Date : May 18, 2004

Enrolled cohort
All patients enrolled, as this is an evaluation/diagnostic study

Primary Outcome Measures :
  1. Evaluation and Diagnosis [ Time Frame: per individual cases ]
    Evaluation of individuals with suspected bone-related connective tissue disorders and their family members

Secondary Outcome Measures :
  1. Biospecimens collection [ Time Frame: 12/31/2030 ]
    Collection of biospecimens for use in clinical and basic science research of bone-related connective tissue disorders and controls

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   up to 70 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Minimal limit on gender, geographical location (able to travel to NIH), race/ethnicity, age (from birth to 70 years old).

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


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.


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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00076830

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United States, Maryland
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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Principal Investigator: Joshua J Zimmerberg, M.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Additional Information:
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Responsible Party: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier: NCT00076830    
Other Study ID Numbers: 040077
First Posted: February 4, 2004    Key Record Dates
Last Update Posted: January 9, 2023
Last Verified: December 30, 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: .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.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
Additional relevant MeSH terms:
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Bone Diseases
Osteogenesis Imperfecta
Bone Diseases, Metabolic
Connective Tissue Diseases
Metabolic Diseases
Musculoskeletal Diseases
Bone Diseases, Developmental
Genetic Diseases, Inborn
Collagen Diseases