Decoding the Genetic Landscape of Skeletal Diseases

Launched by KAROLINSKA INSTITUTET · May 16, 2023

Keywords

ClinConnect Summary

This clinical trial, titled "Decoding the Genetic Landscape of Skeletal Diseases," is focused on finding the genetic causes of certain skeletal disorders that have not been explained by current medical knowledge. Over the next five years, researchers will use advanced techniques to analyze the genetic information of patients who have congenital skeletal disorders, also known as genetic skeletal diseases (GSDs). They will study how these genetic changes affect cells and specially designed mice, and they will gather information about the natural progression and possible complications of different types of GSDs.

If you or a family member has been diagnosed with a skeletal dysplasia—meaning there are abnormalities with the bones or growth—this study may be a good fit. Eligible participants include those with unusual height, abnormal bone structures seen on X-rays, and other related features, as well as healthy relatives of affected individuals. Participants can expect to undergo genetic testing and contribute to research that may lead to a better understanding of these disorders. This trial is currently recruiting individuals of all ages and genders, and it's an opportunity to help advance knowledge in this important area of medicine.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Clinically suspected skeletal dysplasia based on previous investigations
• • Abnormal height
• • Radiographic abnormalities of the skeleton in addition to other syndromic features
• • Healthy relatives of the affected study participants
• Exclusion Criteria:
• • No radiographic data available from clinical investigations
• • Suspected environmental or multifactorial causes