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

Recruiting

• Conditions: Acid SphingoMyelinase Deficiency; Gaucher Disease

• Registration Number: NCT05992532
• Lead Sponsor: Fundación Española de Hematología y Hemoterapía

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2023-05-30
• Study First Submitted: 2023-08-08
• Study First Submitted QC: 2023-08-08
• Study First Posted: 2023-08-15
• Status Verified: 2024-05
• Last Update Submitted: 2024-05-30
• Last Update Posted: 2024-05-31
• Primary Completion: 2025-06
• Study Completion: 2026-03

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 210

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)	36 months	Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)

Trial Locations

Locations (21)

Hospital Universitario de Álava; 🇪🇸 Vitoria, Alava, Spain

Hospital Parc Taulí; 🇪🇸 Sabadell, Barcelona, Spain

Hospital de Manises; 🇪🇸 Valencia, Comunidad Valenciana, Spain

Hospital Son Espases; 🇪🇸 Palma De Mallorca, Islas Baleares, Spain

Hospital del Bierzo; 🇪🇸 Ponferrada, León, Spain

Hospital Alvaro Cunqueiro; 🇪🇸 Vigo, Pontevedra, Spain

Hospital Alcañiz; 🇪🇸 Alcañiz, Teruel, Spain

Hospital Clínico Universitario de Valladolid; 🇪🇸 Valladolid, Zaragoza, Spain

Hospital Universitario Torrecárdenas; 🇪🇸 Almería, Spain

Hospital Universitario de Burgos; 🇪🇸 Burgos, Spain

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