Understanding the genetic causes of skeletal diseases
Decoding the Genetic Landscape of Skeletal Diseases
This study is trying to find the genetic causes of congenital skeletal disorders to help improve diagnosis and treatment for people affected by these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 450 (estimated) |
| Sex | All |
| Sponsor | Karolinska Institutet Academic / other |
| Locations | 1 site (Stockholm) |
| Trial ID | NCT05876416 on ClinicalTrials.gov |
What this trial studies
This project aims to identify genetic causes of congenital skeletal disorders that remain unsolved. It utilizes whole genome sequencing and RNA sequencing to analyze DNA samples from participants with genetic skeletal disorders. The study also investigates the effects of newly identified genetic variants in cellular models and transgenic mice. Additionally, it compiles data on the natural progression and complications associated with different groups of skeletal disorders. The collaboration involves multiple prestigious institutions to enhance diagnostic capabilities and treatment strategies for affected patients.
Who should consider this trial
Good fit: Ideal candidates include individuals with clinically suspected skeletal dysplasia, abnormal height, and radiographic abnormalities.
Not a fit: Patients with no available radiographic data or those with suspected environmental or multifactorial causes may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostics and personalized treatment strategies for patients with genetic skeletal disorders.
How similar studies have performed: Other studies have shown success in identifying genetic causes of rare diseases using similar genomic approaches, indicating a promising avenue for this research.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Stockholm
- Karolinska University Hospital — Stockholm, Sweden (Recruiting)
Study contacts
- Principal investigator: Giedre Grigelioniene, MD, — Dept Molecular Medicine and Surgery, KI
- Study coordinator: Giedre Grigelioniene, MD, PhD
- Email: giedre.grigelioniene@ki.se
- Phone: +46706287697
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.