Decoding the Genetic Landscape of Skeletal Diseases
Recruiting
Observational Study
Genetic Skeletal Diseases
Skeletal Dysplasia
Molecular Causes
Skeletal Disorder
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 450 (estimated)
- Sponsor
- Karolinska Institutet · Other
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Answer a few quick questions to see if you may meet the eligibility requirements.
Check Your Eligibility
About This Trial
This 5-year project aims to (1) search for genetic causes for yet unsolved congenital skeletal disorders (GSDs); (2) study consequences of the newly identified pathogenic variants in cells and in transgenic mice, (3) summarize data on natural course and complications for different GSD groups. For patients with unsolved GSD, the investigators search for molecular causes of GSDs using whole genome s…
Trial Locations
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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 availabl…
Contacts