Setting the stage for newborn screening and gene therapy: a disease-specific retrospective survey of FHL2 and 3

Setting the stage for newborn screening and gene therapy: a disease-specific retrospective survey of FHL2 and 3 - FHL2/3 Study

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00028493

Enrollment

200

Registered

2022-09-06

Start date

2023-04-25

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Familial Hemophagocytic Lymphohistiocytosis 2/3

Interventions

Group 1: Patients with Familial Hemophagocytic Lymphohistiocytosis 2/3

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: • Genetic diagnosis of FHL2 OR FHL3 • Initial disease manifestation and diagnosis between 2010 and 2020

Exclusion criteria

Exclusion criteria: • lack of follow-up data (at least alive/dead) 1 year after HSCT or diagnosis

Design outcomes

Primary

Measure	Time frame
Description of the natural history and outcome of patients with FHL2 and FHL3 based on current standard of care.	—

Secondary

Measure	Time frame
• 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. • Estimation of country-specific population-based incidence of FHL2 and FHL3.	—

Countries

France, Germany, United Kingdom

Contacts

Public ContactStephan Ehl

Universitätsklinikum FreiburgCentrum für Chronische Immundefizienz (CCI)im Zentrum für Translationale Zellforschung

stephan.ehl@uniklinik-freiburg.de+49 761 270 77300

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026