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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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00076830
Recruitment Status : Recruiting
First Posted : February 4, 2004
Last Update Posted : June 19, 2019
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

Detailed Description:
This protocol allows for the screening and diagnosis of a broad array of patients with disorders of bone and connective tissue, and in so doing to expand our knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience. This protocol also serves as a basis for permitting collaborations with other investigators regarding rare, illustrative, or poorly defined human diseases. Many patients seen under this protocol will go on to enroll in a specific disease-related protocol

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Study Type : Observational
Estimated Enrollment : 400 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Screening and Diagnosis of Patients With Connective Tissue Disorders
Study Start Date : February 3, 2004

Minimal limit on gender, geographical location, race/ethnicity, and age.

Primary Outcome Measures :
  1. Screening and Diagnosis [ Time Frame: per individual cases ]
    Screening and diagnosis of individuals with bone and connective tissue disorders and unaffected family members

Secondary Outcome Measures :
  1. Biospecimens collection [ Time Frame: 12/31/2030 ]
    Collection of biospecimens for screening, diagnosis, 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:   No
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 suspected connective tissue disorder, OR Family members of individuals with suspected connective tissue disorder


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.

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 identifier (NCT number): NCT00076830

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Contact: Joan C Marini, M.D. (301) 594-3418

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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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Principal Investigator: Joan C Marini, 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) Identifier: NCT00076830     History of Changes
Other Study ID Numbers: 040077
First Posted: February 4, 2004    Key Record Dates
Last Update Posted: June 19, 2019
Last Verified: April 5, 2019

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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) ):
Connective Tissue Disorders

Additional relevant MeSH terms:
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Bone Diseases
Connective Tissue Diseases
Osteogenesis Imperfecta
Metabolic Diseases
Bone Diseases, Metabolic
Musculoskeletal Diseases
Bone Diseases, Developmental
Genetic Diseases, Inborn
Collagen Diseases