NCT05876416 Decoding the Genetic Landscape of Skeletal Diseases
| NCT ID | NCT05876416 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Karolinska Institutet |
| Condition | Genetic Skeletal Diseases |
| Study Type | OBSERVATIONAL |
| Enrollment | 450 participants |
| Start Date | 2015-01-01 |
| Primary Completion | 2026-12-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 450 participants in total. It began in 2015-01-01 with a primary completion date of 2026-12-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 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
Contact & Investigator
Giedre Grigelioniene, MD,
PRINCIPAL INVESTIGATOR
Dept Molecular Medicine and Surgery, KI
Frequently Asked Questions
Who can join the NCT05876416 clinical trial?
This trial is open to participants of all sexes, studying Genetic Skeletal Diseases. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05876416 currently recruiting?
Yes, NCT05876416 is actively recruiting participants. Contact the research team at giedre.grigelioniene@ki.se for enrollment information.
Where is the NCT05876416 trial being conducted?
This trial is being conducted at Stockholm, Sweden.
Who is sponsoring the NCT05876416 clinical trial?
NCT05876416 is sponsored by Karolinska Institutet. The principal investigator is Giedre Grigelioniene, MD, at Dept Molecular Medicine and Surgery, KI. The trial plans to enroll 450 participants.