Evaluation and Treatment of Patients With Connective Tissue Disease

• ClinicalTrials.gov Identifier: NCT00076830
• Recruitment Status: Completed
• First Posted: February 4, 2004
• Last Update Posted: January 9, 2023
• Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Information provided by (Responsible Party): National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )

Study Description

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; Melorheostosis

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 Design

• Study Type: Observational
• Actual Enrollment: 180 participants
• Observational Model: Cohort
• Time Perspective: Other
• Official Title: Investigations of Bone-Related Connective Tissue Disorders
• Actual Study Start Date: May 18, 2004

Groups and Cohorts

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

Outcome Measures

Primary Outcome Measures :

1. Evaluation and Diagnosis [ Time Frame: per individual cases ]
   Evaluation of individuals with suspected bone-related connective tissue disorders and their family members

Secondary Outcome Measures :

1. Biospecimens collection [ Time Frame: 12/31/2030 ]
   Collection of biospecimens for use in clinical and basic science research of bone-related connective tissue disorders and controls

Eligibility Criteria

• Ages Eligible for Study: up to 70 Years (Child, Adult, Older Adult)
• Sexes Eligible for Study: All
• 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).

Criteria

• 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.

Contacts and Locations

Locations

United States, Maryland

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Sponsors and Collaborators

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)

More Information

Additional Information:

NIH Clinical Center Detailed Web Page 

• Responsible Party: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• ClinicalTrials.gov Identifier: NCT00076830
• Other Study ID Numbers: 040077; 04-CH-0077
• First Posted: February 4, 2004
• Last Update Posted: January 9, 2023
• Last Verified: December 30, 2022

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: No
• 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.

• 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) ):

Bone; Growth; Skin; Fractures

Additional relevant MeSH terms:

Bone Diseases; Osteogenesis Imperfecta; Bone Diseases, Metabolic; Melorheostosis; Connective Tissue Diseases; Metabolic Diseases; Musculoskeletal Diseases; Osteochondrodysplasias; Bone Diseases, Developmental; Genetic Diseases, Inborn; Collagen Diseases; Osteosclerosis