Understanding the genetic causes of skeletal diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.