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

The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes of referral of these patients to pediatric gastroenterology and oncohematology clinics, and adult internal medicine and hematology. The study and management of splenomegaly is well described among the different medical specialties to which these patients arrive. After the application of the different algorithms and the different studies that are carried out, these splenomegaly are identified as being of hepatic, infectious, inflammatory, congestive, hematological origin and primary causes. Despite these studies of splenomegaly, approximately 10-15% of these patients still remain undiagnosed.

Several studies have suggested that there is an increased frequency of MGUS (monoclonal gammopathy of undetermined significance) and/or multiple myeloma (MM) among Gaucher patients. Regarding ASMD (Acid Sphingomyelinase Deficiency), few studies have been published but it seems the 21% of patient with ASMD has MGUS and 15% ASMD patients have MGUS. Moreover, patients with MGUS and Gaucher disease (GD) are at increased risk of developing MM.

The objective of the present study is to increase the diagnostic sensitivity of these unknown splenomegalys, or unknown splenomegaly patients with MGUS or multiple myeoloma who remain in consultations, using the usual diagnostic clinical procedures of unknown splenomegaly and unknown splenectomy patients, where we include the extraction of a blood sample for dry drop test (DBS), where the determination of the enzymatic/genetic activity will be carried out for Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) , analysis of LisoGl1 and LisoSM.

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Key information

Conditions

Gaucher Disease Acid Sphingomyelinase Deficiency Blood Protein Disorders Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Histiocytosis Histiocytosis, Non-Langerhans-Cell Hypertrophy Immune System Diseases Immunoproliferative Disorders Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lymphatic Diseases Lymphoproliferative Disorders Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Multiple Myeloma Neoplasms Neoplasms by Histologic Type Neoplasms, Plasma Cell Nervous System Diseases Niemann-Pick Diseases Nutritional and Metabolic Diseases Paraproteinemias Pathological Conditions, Anatomical Pathological Conditions, Signs and Symptoms Sphingolipidoses Splenomegaly Vascular Diseases

Age range

18 year–99 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital Universitario de Álava, Vitoria-Gasteiz, Alava, Spain

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Adult patients of both sexes.
Patients with splenomegaly (spleen palpable at ≥ 1cm from the costal margin) or splenectomy not related to any specific condition, or patients with thrombocytopenia (with or without splenomegaly). In cases where the patient is undergoing treatment for their underlying condition, the thrombocytopenia must have been present prior to the start of the treatment.
Patient who gives their consent to participate in the study.

Exclusion criteria

Splenomegaly due to portal hypertension (documented by abdominal ultrasound or other instrumental test) due to liver disease
Hematologic malignancy [documented by positive physical exam + blood smear or fine needle aspiration (FNA) or bone marrow biopsy]
Hemolytic anemia and/or thalassemia
Patients who cannot meet the requirements of the protocol due to mental and/or cognitive alterations, uncooperative patients, educational limitations and understanding of written language
Refusal of the patient to participate in the study

Treatment and study plan

Primary outcomes

Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)

Time frame: 36 months

Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)

Study contacts

Contact information is provided by the study sponsor or research team.

FEHH SEHH, MD

CONTACT

[email protected]

91 319 19 98

Sponsors and collaborators

Lead sponsor

Fundación Española de Hematología y Hemoterapía

Other

Registry information

Official study title

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

Important dates

Study start: 2023
Primary completion: 2025
Study completion: 2026
First posted: Aug 15, 2023
Registry last updated: Feb 11, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed