NCT00076830

Evaluation and Treatment of Patients With Connective Tissue Disease

Completed Last updated 24 March 2026

What this trial tests

trial in Connective Tissue Disorders in 180 participants. Completed.

Timeline

18 May 2004

Quick facts

Lead sponsor	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Status	Completed
Study type	OBSERVATIONAL
Enrollment	180
Start date	18 May 2004
Sites	1 location across United States

Conditions studied

• Connective Tissue Disorders — all drugs for Connective Tissue Disorders →
• Osteogenesis Imperfecta — all drugs for Osteogenesis Imperfecta →
• Bone Diseases, Metabolic — all drugs for Bone Diseases, Metabolic →
• Melorheostosis — all drugs for Melorheostosis →

Sponsor

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Who can join

Under 70, any sex, with Connective Tissue Disorders or Osteogenesis Imperfecta. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

1. <i>CRTAP</i>-Null Osteoblasts Have Increased Proliferation, Protein Secretion, and Skeletal Morphogenesis Gene Expression with Downregulation of Cellular Adhesion.
   Barnes AM, Mitra A, Knue MM, Derkyi A, et al · · 2025 · PMID 40214472 · DOI 10.3390/cells14070518