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

NCT05992532 | Recruiting

• 1 other identifier: GammaGA
• Study Type: observational
• Target: 210
• Locations: 1 country
• Sites: 23

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.

Conditions

Gaucher Disease; Acid SphingoMyelinase Deficiency

Keywords

Gaucher disease; Acid sphingomyelinase deficiency; GD; ASMD; DBS; Splenomegaly; monoclonal gammopathies; multiple myeloma

Outcome Measures

Primary Outcomes (1)

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

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

  36 months

Eligibility Criteria

• Age: 18 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

* Adult patients of both sexes. * Patients who present signs, assessed instrumentally or with laboratory tests, of unknown splenomegaly, defined as a palpable spleen ≥ 1cm from the costal margin or diagnosed by ultrasound, magnetic resonance imaging (MRI) or computed tomography (CT) of the spleen. * Splenectomy patient with no diagnosis of the origin of the splenomegaly of unknown origin. * Patients with thrombocytopenia. 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

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Fundación Española de Hematología y Hemoterapía: lead

Study Sites (23)

Hospital Universitario de Álava

Vitoria-Gasteiz, Alava, Spain

RECRUITING

Hospital Universitario Torrecárdenas

Almería, Almería, Spain

RECRUITING

Hospital Son Espases

Palma de Mallorca, Balearic Islands, Spain

RECRUITING

Hospital Parc Taulí

Sabadell, Barcelona, Spain

RECRUITING

Hospital Universitario de Burgos

Burgos, Burgos, Spain

RECRUITING

Hospital de Valdepeñas

Valdepeñas, Ciudad Real, 28040, Spain

RECRUITING

Hospital Universitario Dr. Josep Trueta

Girona, Girona, Spain

RECRUITING

Hospital Universitario Virgen de las Nieves

Granada, Granada, Spain

RECRUITING

Hospital San Jorge

Huesca, Huesca, Spain

RECRUITING

Hospital de Jaén

Jaén, Jaén, Spain

RECRUITING

Hospital del Bierzo

Ponferrada, León, Spain

RECRUITING

Hospital Arnau de Vilanova

Lleida, Lleida, Spain

RECRUITING

Hospital Universitario La Paz

Madrid, Madrid, 28040, Spain

RECRUITING

Hospital Universitario Ramón y Cajal

Madrid, Madrid, 28040, Spain

RECRUITING

Hospital Fundación Jiménez Díaz

Madrid, Madrid, Spain

RECRUITING

Hospital Regional Universitario de Málaga

Málaga, Málaga, Spain

RECRUITING

Complejo Hospitalario Universitario de Orense

Ourense, Orense, Spain

RECRUITING

Hospital Alvaro Cunqueiro

Vigo, Pontevedra, Spain

RECRUITING

Hospital Alcañiz

Alcañiz, Teruel, Spain

RECRUITING

Hospital de Manises

Valencia, Valencia, Spain

RECRUITING

Hospital Universitario y Politécnico La Fe

Valencia, Valencia, Spain

RECRUITING

Hospital Clínico Universitario de Valladolid

Valladolid, Zaragoza, Spain

RECRUITING

Complejo Asistencial de Ávila

Ávila, Ávila, Spain

RECRUITING

MeSH Terms

Conditions

Gaucher Disease; Niemann-Pick Diseases; Splenomegaly; Paraproteinemias; Multiple Myeloma

Condition Hierarchy (Ancestors)

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

Central Study Contacts

FEHH SEHH, MD

CONTACT

91 319 19 98; sehh@sehh.es

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 8, 2023
• First Posted: August 15, 2023
• Study Start: May 30, 2023
• Primary Completion: December 31, 2025
• Study Completion: May 1, 2026
• Last Updated: February 11, 2026

Record last verified: 2026-02

Locations

ES (23)