Prevalence of Gaucher Disease in Hematological Routine Practice – from Thrombocytopenia to Diagnosis of Gaucher Disease (PRAGMATIC-Diagnosis)

• Conditions: E75.2; D69.3; Other sphingolipidosis; Idiopathic thrombocytopenic purpura

• Registration Number: DRKS00022437
• Lead Sponsor: BAG onkologische Schwerpunktpraxis

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2020-07-30
• Study Completion: 2022-07-31
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 222

Inclusion Criteria

1. unexplained thrombocytopenia: Platelet count < 150x109/l at two independent measurements
or
2. with unexplained thrombocytopenia (one platelet count < 150x109/l) and at least one other abnormal hematological parameter (leukocyte < 4x109/l, known serum ferritin >ULN, male patients: Hb < 8 mmol/l (13 g/dl), female patients: Hb < 7.5 mmol/l (12 g/dl)
or
3. ITP and known splenomegaly (according DGHO guidelines)

Exclusion Criteria

1. Patients under the age of 18
2. Patients receiving cytopenia inducing treatment (e.g. chemotherapy)
3. Patients unable to state informed consent for genetic testing
4. Patients with known other causalities for thrombocytopenia e.g. viral disease (HIV, Hepatitis C), severe liver disease, autoimmune disease
5. Patients with ITP without splenomegaly (according DGHO guidelines)
6. Patients with comedication with a high probability to lead to thrombocytopenia

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
The primary objective of this study is to evaluate the prevalence of Gaucher in a defined risk population.

Secondary Outcome Measures

Name	Time	Method
The secondary objective of this study is to evaluate the prevalence of Gaucher disease combined with the concurrent presence of<br>- Known visceral abnormalities (splenomegaly, hepatomegaly or both)<br>or<br>- Known bone issues (pain, fractures or other impairment)<br>or<br>- ITP with known splenomegaly (according DGHO guidelines)