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Clinical Trials in Sweden / NCT05876416
Recruiting Observational

Decoding the Genetic Landscape of Skeletal Diseases

NCT05876416 · tracked via the Priya Life Science Sweden tracker
Sponsor
Karolinska Institutet
Phase
Observational
Started
2015-01-01
Last updated
2023-05-25

Condition(s) studied

Genetic Skeletal DiseasesSkeletal DysplasiaMolecular CausesSkeletal Disorder

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.

Eligibility

Sex
ALL
Min age
—
Max age
—
Healthy volunteers
Accepted
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

Primary outcome measure(s)

  • New gene discoveries for genetic skeletal disorders (GSDs) — 2023-2028
    2-3 new disease causes and disease entities identified and reported per year for GSDs.
  • Improved knowledge regarding natural cause of rare GSDs — 2023-2028
    1-2 GSDs reported as small patient groups with the same condition and clinical characteristics/course.

Trial sites (1)

FacilityCityRegionStatus
Karolinska University Hospital Stockholm Sweden Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT05876416 on ClinicalTrials.gov ↗ ← All trials in Sweden