Investigations of Bone-Related Connective Tissue Disorders

  • STATUS
    Recruiting
  • participants needed
    400
  • sponsor
    Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Updated on 18 September 2022
ct scan
computed tomography
x-rays
skin biopsy
rheumatism
microscopic examination
genetic analysis
connective tissue disorder
blood drawing
ear plugs
Accepts healthy volunteers

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.

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.

Details
Condition Connective Tissue Disorders, Osteogenesis Imperfecta, Bone Diseases, Metabolic, Melorheostosis
Clinical Study IdentifierNCT00076830
SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Last Modified on18 September 2022

Eligibility

Yes No Not Sure

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
Clear my responses

How to participate?

Step 1 Connect with a study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer to help accelerate the development of new treatments and to get notified about similar trials.

You are contacting

Investigator Avatar

Primary Contact

site

0/250

Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

Learn more

If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

Learn more

Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

Learn more

Similar trials to consider

Loading...

Browse trials for

Not finding what you're looking for?

Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.

Sign up as volunteer

user name

Added by • 

 • 

Private

Reply by • Private
Loading...

Lorem ipsum dolor sit amet consectetur, adipisicing elit. Ipsa vel nobis alias. Quae eveniet velit voluptate quo doloribus maxime et dicta in sequi, corporis quod. Ea, dolor eius? Dolore, vel!

  The passcode will expire in None.
Loading...

No annotations made yet

Add a private note
  • abc Select a piece of text from the left.
  • Add notes visible only to you.
  • Send it to people through a passcode protected link.
Add a private note