Evaluation and Treatment of Patients With Connective Tissue Disease

Study Overview
=================
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.

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.

Official Title
-----------------
Investigations of Bone-Related Connective Tissue Disorders

Conditions
-----------------
Connective Tissue Disorders, Osteogenesis Imperfecta, Bone Diseases, Metabolic, Melorheostosis

Participation Criteria
=================
Eligibility 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.

Ages Eligible for Study
-----------------
Maximum Age: 70 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
Accepts Healthy Volunteers

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Enrolled cohort<br>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 | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
Bone, Growth, Skin, Fractures