Evaluation and Treatment of Patients With Connective Tissue Disease

Investigations of Bone-Related Connective Tissue Disorders

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.

Study Overview

• Status: Completed
• Conditions: Bone Diseases, Metabolic; Osteogenesis Imperfecta; Melorheostosis; Connective Tissue Disorders

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.

• Study Type: Observational
• Enrollment (Actual): 180

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • National Institutes of Health Clinical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 70 years (Child, Adult, Older Adult)
• 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).

Description

• 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 bone

OR

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.

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

Number of groups / cohorts

1

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Evaluation and Diagnosis	Evaluation of individuals with suspected bone-related connective tissue disorders and their family members	per individual cases

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Biospecimens collection	Collection of biospecimens for use in clinical and basic science research of bone-related connective tissue disorders and controls	12/31/2030

Collaborators and Investigators

• Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Investigators: Principal Investigator: Joshua J Zimmerberg, M.D., Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Publications and helpful links

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): May 18, 2004

Study Registration Dates

• First Submitted: July 12, 2006
• First Submitted That Met QC Criteria: February 3, 2004
• First Posted (Estimated): February 4, 2004

Study Record Updates

• Last Update Posted (Actual): April 16, 2024
• Last Update Submitted That Met QC Criteria: April 13, 2024
• Last Verified: April 12, 2024

More Information

Terms related to this study

• Keywords: Skin; Bone; Growth; Fractures
• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Musculoskeletal Diseases; Bone Diseases, Developmental; Osteochondrodysplasias; Collagen Diseases; Osteosclerosis; Connective Tissue Diseases; Bone Diseases; Bone Diseases, Metabolic; Metabolic Diseases; Osteogenesis Imperfecta; Melorheostosis
• Other Study ID Numbers: 040077; 04-CH-0077

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD 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.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No