Clinical and Laboratory Research to Understand Rare Skeletal Disorders and Their Genetic Causes

What this Trial Is About

Researchers are investigating rare skeletal disorders to better understand their causes and how they change over time. This study focuses on individuals with known or suspected skeletal conditions, including those with a history of pregnancy affected by skeletal findings, as well as healthy family members. The study aims to define genetic factors linked to these disorders and describe their natural history when enough data is collected. Participants can join the study either remotely or in person at a clinical center. Remote participants may submit medical records, blood and urine samples, photographs, and other materials. Those attending in person might undergo clinical exams, imaging scans like X-rays, genetic testing, and possibly biopsies. Some participants blood or tissue samples may be used to create special stem cells for laboratory research. During the study, participants provide medical information and biological samples and may have imaging and clinical assessments. Genetic counseling may be offered. Some participants might stay in the hospital briefly for extra testing. Photographs may document physical changes over time. Participation can continue indefinitely to allow ongoing data collection and monitoring of skeletal disorders.

Study of Skeletal Disorders