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Decoding the Genetic Landscape of Skeletal Diseases

NCT05876416 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 450

Last updated 2023-05-25

No results posted yet for this study

Summary

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.

Conditions

Sponsors & Collaborators

  • Karolinska University Hospital

    collaborator OTHER

  • Göteborg University

    collaborator OTHER

  • Karolinska Institutet

    lead OTHER

Principal Investigators

  • Giedre Grigelioniene, MD, · Dept Molecular Medicine and Surgery, KI

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2015-01-01
Primary Completion
2026-12-31
Completion
2026-12-31

Countries

  • Sweden

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05876416 on ClinicalTrials.gov