Evaluation and Treatment of Patients With Connective Tissue Disease
Investigations of Bone-Related Connective Tissue Disorders
2 other identifiers
observational
180
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Posted
Study publicly available on registry
February 4, 2004
CompletedStudy Start
First participant enrolled
May 18, 2004
CompletedFirst Submitted
Initial submission to the registry
July 12, 2006
CompletedApril 24, 2026
January 9, 2026
July 12, 2006
April 23, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Evaluation and Diagnosis
Evaluation of individuals with suspected bone-related connective tissue disorders and their family members
per individual cases
Secondary Outcomes (1)
Biospecimens collection
12/31/2030
Study Arms (1)
Enrolled cohort
All patients enrolled, as this is an evaluation/diagnostic study
Eligibility Criteria
Minimal limit on gender, geographical location (able to travel to NIH), race/ethnicity, age (from birth to 70 years old).
You may qualify if:
- 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.
You may not qualify if:
- 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.
- radiation, but not excluded from the study overall.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Joshua J Zimmerberg, M.D.
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- OTHER
- Sponsor Type
- NIH
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
July 12, 2006
First Posted
February 4, 2004
Study Start
May 18, 2004
Last Updated
April 24, 2026
Record last verified: 2026-01-09
Data Sharing
- IPD Sharing
- Will not share
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.