What is this study trying to find out about Gaucher Disease and Acid Sphingomyelinase Deficiency?

This study aims to determine how common Gaucher Disease and Acid Sphingomyelinase Deficiency are among patients with unexplained splenomegaly or monoclonal gammopathies like MGUS and multiple myeloma. It helps understand these conditions better using blood tests. Participants can expect evaluations and blood sample collection during their usual medical visits.

Who may be eligible for this Gaucher Disease and ASMD clinical trial?

Adults aged 18 to 99 with splenomegaly or previous spleen removal without a known cause may be eligible. Both men and women can join if they have certain blood conditions like thrombocytopenia and consent to participate. Patients with liver-related spleen enlargement or blood cancers are excluded. Please review eligibility criteria for more details.

Is there any cost to participate in this Gaucher Disease and ASMD clinical trial?

Study-related care, including all tests and trial visits, is provided at no cost. However, personal travel expenses to the study site may vary and are not guaranteed to be covered. Participants should be prepared for possible out-of-pocket travel costs.

Actively Recruiting

Age: 18Years - 99Years

All Genders

ID05992532

Study on the Frequency of Acid Sphingomyelinase Deficiency and Gaucher Disease in Adults with Monoclonal Gammopathies or Multiple Myeloma

Led by Fundación Española de Hematología y Hemoterapía · Updated on 2026-02-11

210

Participants Needed

Research Sites

17 weeks

Total Duration

AI-Summary

What this Trial Is About

Researchers are studying patients with splenomegaly or those who have had a splenectomy without a known cause, focusing on the possible presence of Gaucher disease GD and Acid Sphingomyelinase Deficiency ASMD. These conditions may be linked to monoclonal gammopathy of undetermined significance MGUS and multiple myeloma MM, which have been found more frequently among Gaucher and ASMD patients. The study aims to improve diagnosis of unknown causes of splenomegaly and undiagnosed cases of MGUS or MM in these patients. The study involves using standard diagnostic procedures for unknown splenomegaly and splenectomy patients, including collecting blood samples for a dry drop test DBS. This test measures enzymatic and genetic activity related to Gaucher disease and ASMD, alongside analysis of LisoGl1 and LisoSM biomarkers. No specific treatment or intervention is applied since this is an observational study. Participants will undergo clinical evaluations and blood sampling to help identify the prevalence of Gaucher disease and ASMD over a 36-month period. Researchers will track how many patients with unknown splenomegaly or MGUSMM have these enzyme deficiencies. The study is observational, with no treatment assigned, and participants will be monitored during their routine medical consultations throughout the study duration.

CONDITIONS

Brief Title

GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma

Who Can Participate

Age: 18Years - 99Years

All Genders

Eligibility Criteria

You may qualify if you...

Adult patients of both sexes
Patients with splenomegaly (spleen palpable at 651cm from the costal margin) or splenectomy not related to any specific condition
Patients with thrombocytopenia present before treatment for their underlying condition
Patients who provide consent to participate in the study

You will not qualify if you...

Splenomegaly due to portal hypertension caused by liver disease
Hematologic malignancy confirmed by physical exam and laboratory tests
Hemolytic anemia and/or thalassemia
Patients unable to comply due to mental or cognitive impairments or educational limitations
Patients who refuse to participate in the study

Research Team

FEHH SEHH, MD

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