Actively Recruiting
Decoding the Genetic Landscape of Skeletal Diseases to Identify Causes and Understand Progression
Led by Karolinska Institutet · Updated on 2023-05-25
450
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
K
Karolinska Institutet
Lead Sponsor
K
Karolinska University Hospital
Collaborating Sponsor
AI-Summary
What this Trial Is About
This research aims to find genetic causes of unexplained congenital skeletal disorders (GSDs) and better understand their natural development and complications. It is a 5-year project involving collaboration among genetic and bone research institutions. The study focuses on participants with unsolved GSD diagnoses, using advanced genetic testing to identify new gene variants and study their effects in cells and animal models. The goal is to improve diagnosis, knowledge of disease mechanisms, and future treatment strategies for skeletal diseases. Participants include a well-characterized group of 300 individuals with GSD, including 120 with unknown diagnoses. Researchers use whole genome sequencing and RNA sequencing to search for molecular causes. Candidate gene variants are selected with support from clinical findings and large genetic databases. The effects of new variants are studied both in laboratory cells and in transgenic mice to understand their role in disease. During the study, data on the genetic changes, clinical features, and complications of different GSD groups are collected and summarized. The project tracks new gene discoveries and gathers information about the natural course of rare skeletal disorders. This information aims to help develop personalized follow-up and treatment plans. Participation involves genetic sample analysis and clinical data review, with an overall focus on advancing scientific knowledge about skeletal diseases over the 5-year period.
CONDITIONS
Brief Title
Decoding the Genetic Landscape of Skeletal Diseases
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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
You will not qualify if you...
- No radiographic data available from clinical investigations
- Suspected environmental or multifactorial causes
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Throughout the 5-year study period
Participants undergo genetic and clinical assessments including whole genome sequencing and RNA sequencing to identify genetic causes of skeletal disorders.
Periodic visits as needed for sample collection and clinical assessments
Duration - Up to 5 years
Participants are observed over time to understand the natural course and complications of genetic skeletal disorders.
Follow-up visits scheduled according to individual clinical needs
Trial Site Locations
Total: 1 location
1
Karolinska University Hospital
Stockholm, Sweden, 17176
Actively Recruiting
Research Team
G
Giedre Grigelioniene, MD, PhD
H
Hillevi Lindelöf, MD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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