Decoding the Genetic Landscape of Skeletal Diseases
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorKarolinska Institutet
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 sequencing (WGS) and total ribonucleic acid (RNA) sequencing. Candidate gene variants are selected using genome or transcriptome sequencing data, clinical findings and screening of omics databases. Causality of the new variants is studied in cells and in transgenic mice models. Molecular and clinical findings are summarized for different GSD groups.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
None
Disqualifiers
None
Trial population
Individuals of any age with congenital skeletal diseases and their healthy relatives
Trial design
Design model
Cohort
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
New gene discoveries for genetic skeletal disorders (GSDs)
2-3 new disease causes and disease entities identified and reported per year for GSDs.
Time frame
2023-20282
Improved knowledge regarding natural cause of rare GSDs
1-2 GSDs reported as small patient groups with the same condition and clinical characteristics/course.
Time frame
2023-2028Secondary outcomes
1
Disease (GSD) associated traits and complications
The observations include internal malformations, metabolic, biochemical and growth parameters, and secondary complications.
Time frame
2023-20282
Information on disease causing variants in GSD
During the study we identify several novel disease causing variants in known GSD genes and report them to databases.
Time frame
2023-2028Sponsors and contacts
Click on the lead sponsor to view all of their trials.
Karolinska Institutet
Lead sponsor
Karolinska University Hospital
Collaborator
Göteborg University
Collaborator
Source ClinicalTrials.gov