Rare Disease Trial, Recruiting

Written by an AI model from the ClinicalTrials.gov eligibility criteria and checked on a sample basis. Please confirm against the original criteria.

Who might be able to join this trial:

General Natural History Study:

• People who have been diagnosed with Osteogenesis Imperfecta (OI, also known as "brittle bone disease") confirmed through DNA testing
• People whose medical history and bone X-rays strongly suggest OI, even if it has not been confirmed through lab or DNA testing

Vertebral (Spine) Compression Fractures Component:

• People of any age who have a specific type of genetic change (called a nonsense or frameshift mutation) in the COL1A1 or COL1A2 genes, and show signs of OI Type I

Scoliosis (Curved Spine) Component:

• Study participants between the ages of 3 and 17 years
• Study participants aged 18 and older who have scoliosis

Dental and Craniofacial (Teeth and Face/Skull) Component:

• People aged 3 years and older who are already enrolled in the main study

Pregnancy Component:

• Women of childbearing age who have a genetic mutation in any known gene linked to OI, and who are considering becoming pregnant within 5 years of joining the main study
• Women who are already pregnant and have had a bone density measurement taken within the 5 years before their first pregnancy visit in the study

Who may not be able to join:

General Natural History Study:

• People who are not able to return for scheduled follow-up visits
• People who have a bone or skeletal growth condition other than OI
• People who have OI alongside a second separate genetic or syndrome-based diagnosis

Vertebral Compression Fractures Component:

• People who have used bone-affecting medications (such as bisphosphonates, calcitonin, calcitriol, or fluoride) within the year before joining this part of the study
• People who have conditions other than OI that affect muscle or bone development, such as cerebral palsy or rickets
• People whose specific genetic mutation is located in the final coding sections of the COL1A1 or COL1A2 genes, as this type of mutation may not cause the particular form of OI this component is studying (confirm with trial site)

Dental and Craniofacial Component:

• People who decline to have a dental examination

Pregnancy Component:

• Males
• Women who are approaching or have gone through menopause
• Women who have previously been pregnant with three or more babies at the same time (higher-order multiples)

Important: Always verify eligibility with the trial site directly before applying.