Evaluation and Treatment of Patients With Connective Tissue Disease
Investigations of Bone-Related Connective Tissue Disorders
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
This observational or N/A phase trial investigates Bone Diseases, Metabolic and Connective Tissue Disorders and is currently completed. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) leads this study, which shows 62 recorded versions since 2004 — indicating substantial longitudinal coverage. The change history captured here reflects the iterative nature of clinical trial conduct.
Study Description(click to expand)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.
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.
Status Flow
Change History
62 versions recorded-
Apr 28, 2026 — Present [daily]
Completed
-
Mar 2026 — Apr 2026 [monthly]
Completed
-
Feb 2026 — Mar 2026 [monthly]
Completed
-
Aug 2025 — Feb 2026 [monthly]
Completed
-
Jun 2025 — Aug 2025 [monthly]
Completed
▶ Show 57 earlier versions
-
May 2025 — Jun 2025 [monthly]
Completed
-
Apr 2025 — May 2025 [monthly]
Completed
-
Mar 2025 — Apr 2025 [monthly]
Completed
-
Feb 2025 — Mar 2025 [monthly]
Completed
-
Dec 2024 — Feb 2025 [monthly]
Completed
-
Nov 2024 — Dec 2024 [monthly]
Completed
-
Oct 2024 — Nov 2024 [monthly]
Completed
-
Sep 2024 — Oct 2024 [monthly]
Completed
-
Aug 2024 — Sep 2024 [monthly]
Completed
-
Jul 2024 — Aug 2024 [monthly]
Completed
-
May 2024 — Jul 2024 [monthly]
Completed
-
Mar 2024 — May 2024 [monthly]
Completed
-
Feb 2024 — Mar 2024 [monthly]
Completed
-
Jan 2024 — Feb 2024 [monthly]
Completed
-
Dec 2023 — Jan 2024 [monthly]
Completed
-
Nov 2023 — Dec 2023 [monthly]
Completed
-
Sep 2023 — Nov 2023 [monthly]
Completed
-
Jul 2023 — Sep 2023 [monthly]
Completed
-
Jun 2023 — Jul 2023 [monthly]
Completed
-
May 2023 — Jun 2023 [monthly]
Completed
-
Apr 2023 — May 2023 [monthly]
Completed
-
Feb 2023 — Apr 2023 [monthly]
Completed
-
Jan 2023 — Feb 2023 [monthly]
Completed
Status: Recruiting → Completed
-
Nov 2022 — Jan 2023 [monthly]
Recruiting
-
Sep 2022 — Nov 2022 [monthly]
Recruiting
-
Jul 2022 — Sep 2022 [monthly]
Recruiting
-
Jun 2022 — Jul 2022 [monthly]
Recruiting
-
May 2022 — Jun 2022 [monthly]
Recruiting
-
Apr 2022 — May 2022 [monthly]
Recruiting
-
Jan 2022 — Apr 2022 [monthly]
Recruiting
-
Sep 2021 — Jan 2022 [monthly]
Recruiting
-
Jun 2021 — Sep 2021 [monthly]
Recruiting
-
May 2021 — Jun 2021 [monthly]
Recruiting
-
Apr 2021 — May 2021 [monthly]
Recruiting
-
Mar 2021 — Apr 2021 [monthly]
Recruiting
-
Feb 2021 — Mar 2021 [monthly]
Recruiting
-
Jan 2021 — Feb 2021 [monthly]
Recruiting
-
Sep 2020 — Jan 2021 [monthly]
Recruiting
-
Aug 2020 — Sep 2020 [monthly]
Recruiting
-
Jul 2020 — Aug 2020 [monthly]
Recruiting
-
Jun 2020 — Jul 2020 [monthly]
Recruiting
-
May 2020 — Jun 2020 [monthly]
Recruiting
-
Feb 2020 — May 2020 [monthly]
Recruiting
-
Jan 2020 — Feb 2020 [monthly]
Recruiting
-
Oct 2019 — Jan 2020 [monthly]
Recruiting
-
Jul 2019 — Oct 2019 [monthly]
Recruiting
-
Jun 2019 — Jul 2019 [monthly]
Recruiting
-
May 2019 — Jun 2019 [monthly]
Recruiting
-
Apr 2019 — May 2019 [monthly]
Recruiting
-
Mar 2019 — Apr 2019 [monthly]
Recruiting
-
Feb 2019 — Mar 2019 [monthly]
Recruiting
-
Jan 2019 — Feb 2019 [monthly]
Recruiting
-
Oct 2018 — Jan 2019 [monthly]
Recruiting
-
Sep 2018 — Oct 2018 [monthly]
Recruiting
-
Jun 2018 — Sep 2018 [monthly]
Recruiting
-
Apr 2018 — Jun 2018 [monthly]
Recruiting
Phase: NA → None
-
Jan 2017 — Apr 2018 [monthly]
Recruiting NA
First recorded
May 2004
Trial started
Per CT.gov start date — pre-dates our first snapshot
Eligibility 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.
Contact Information
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
For direct contact, visit the study record on ClinicalTrials.gov .