Setting the stage for newborn screening and gene therapy: a disease-specific retrospective survey of FHL2 and 3
Recruiting
- Conditions
- Familial Hemophagocytic Lymphohistiocytosis 2/3
- Registration Number
- DRKS00028493
- Lead Sponsor
- niversitätsklinikum FreiburgCentrum für Chronische Immundefizienz (CCI)im Zentrum für Translationale Zellforschung
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 200
Inclusion Criteria
• Genetic diagnosis of FHL2 OR FHL3
• Initial disease manifestation and diagnosis between 2010 and 2020
Exclusion Criteria
• lack of follow-up data (at least alive/dead) 1 year after HSCT or diagnosis
Study & Design
- Study Type
- observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Description of the natural history and outcome of patients with FHL2 and FHL3 based on current standard of care.
- Secondary Outcome Measures
Name Time Method • Comparison of outcome in patients presenting with HLH with patients identified asymptomatically (e.g. through family history) and transplanted pre-emptively prior to developing HLH.<br>• Estimation of country-specific population-based incidence of FHL2 and FHL3.<br>