Identifying new genetic causes of immune disorders
Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing
This study is trying to find new genetic causes of immune disorders in people with primary immune deficiency who haven't been fully diagnosed yet.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Sex | All |
| Sponsor | University of Zurich Academic / other |
| Locations | 1 site (Zurich) |
| Trial ID | NCT03414528 on ClinicalTrials.gov |
What this trial studies
This study analyzes DNA samples from patients diagnosed with primary immune deficiency disorders (PID) who have not yet been molecularly characterized. By utilizing whole exome and genome sequencing, the research aims to uncover new inborn errors of immunity that could explain these undetermined cases. The study also includes transcriptome analysis to further understand the genetic underpinnings of these conditions. Participants will provide written informed consent to take part in this observational study.
Who should consider this trial
Good fit: Ideal candidates include individuals of any age diagnosed with primary immunodeficiency disorders.
Not a fit: Patients with secondary immunodeficiency disorders will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better diagnosis and treatment options for patients with previously unexplained immune deficiencies.
How similar studies have performed: Other studies utilizing genomic sequencing for identifying genetic causes of immune disorders have shown promising results, indicating potential success for this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patients with primary immunodeficiency (PID) * Male and Female participants 0 years to adult age (any) * Written informed consent by the participant after information about the research project Exclusion Criteria: * Secondary immunodeficiency * Refusal to enter the study
Where this trial is running
Zurich
- University Children's Hospital Zurich — Zurich, Switzerland (Recruiting)
Study contacts
- Principal investigator: Janine Reichenbach, Prof. Dr. — University Children's Hospital, Zurich
- Study coordinator: Janine Reichenbach, Prof. Dr.
- Email: janine.reichenbach@kispi.uzh.ch
- Phone: +41442667311
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.