Connective Tissue DisordersNCT00076830
Evaluation and Treatment of Patients With Connective Tissue Disease
An observational study of Connective Tissue Disorders and Osteogenesis Imperfecta, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Connective Tissue Disorders, Osteogenesis Imperfecta, Bone Diseases, Metabolic
- How many people
- 180 participants
- Where
- 1 siteUnited States
- Study dates
- 18 May 2004to not given
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 70 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Minimal limit on gender, geographical location (able to travel to NIH), race/ethnicity, age (from birth to 70 years old).
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: 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.
Read more
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.
Read the 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.
- Conditions
- Connective Tissue Disorders, Osteogenesis Imperfecta, Bone Diseases, Metabolic, Melorheostosis
- Keywords
- Bone, Growth, Skin, Fractures
- Medical subject headings
- Connective Tissue Diseases, Osteogenesis Imperfecta, Bone Diseases, Metabolic, Melorheostosis, Fractures, Bone
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Enrolled cohort | All patients enrolled, as this is an evaluation/diagnostic study |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluation and Diagnosis
Evaluation of individuals with suspected bone-related connective tissue disorders and their family members
Measured: per individual cases
Secondary outcomes (1)
Biospecimens collection
Collection of biospecimens for use in clinical and basic science research of bone-related connective tissue disorders and controls
Measured: 12/31/2030
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Feb 2004 (estimated)
- Study start18 May 2004
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Connective Tissue DisordersStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 180 participants (actual)
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Joshua J Zimmerberg, M.D., Principal investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00076830
- Sponsor's protocol ID
- 040077
- Other IDs
- 04-CH-0077
- Status last verified
- 9 Jan 2026
- First submitted
- 12 Jul 2006
- Last updated
- 16 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: 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.