Investigations of Bone-Related Connective Tissue Disorders

  • participants needed
  • sponsor
    Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Updated on 18 September 2022
ct scan
computed tomography
skin biopsy
microscopic examination
genetic analysis
connective tissue disorder
blood drawing
ear plugs
Accepts healthy volunteers


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.


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.

Condition Connective Tissue Disorders, Osteogenesis Imperfecta, Bone Diseases, Metabolic, Melorheostosis
Clinical Study IdentifierNCT00076830
SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Last Modified on18 September 2022


Yes No Not Sure

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
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

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
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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