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

February 9, 2026 updated by: Fundación Española de Hematología y Hemoterapía

GammaGA: Study of the 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.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

210

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: FEHH SEHH, MD
  • Phone Number: 91 319 19 98
  • Email: sehh@sehh.es

Study Locations

  • Spain
    • Alava
      • Vitoria-Gasteiz, Alava, Spain
        • Recruiting
        • Hospital Universitario de Alava
        • Contact:
          • Xabier Gutiérrez López de Ocáriz, MD
    • Almería
      • Almería, Almería, Spain
        • Recruiting
        • Hospital Universitario Torrecárdenas
        • Contact:
          • Alejandro Ponce Navarro, MD
    • Balearic Islands
      • Palma de Mallorca, Balearic Islands, Spain
        • Recruiting
        • Hospital Son Espases
        • Contact:
          • Albert Pérez, MD
    • Barcelona
      • Sabadell, Barcelona, Spain
        • Recruiting
        • Hospital Parc Tauli
        • Contact:
          • Marta Gomez Nuñez, MD
    • Burgos
      • Burgos, Burgos, Spain
        • Recruiting
        • Hospital Universitario de Burgos
        • Contact:
          • Beatriz Cuevas, MD
    • Ciudad Real
      • Valdepeñas, Ciudad Real, Spain, 28040
        • Recruiting
        • Hospital de Valdepeñas
        • Contact:
          • Bolívar Luis Díaz Jordán, MD
          • Phone Number: +034 913191998
          • Email: sehh@sehh.es
    • Girona
      • Girona, Girona, Spain
        • Recruiting
        • Hospital Universitario Dr. Josep Trueta
        • Contact:
          • Yolanda González, MD
    • Granada
      • Granada, Granada, Spain
        • Recruiting
        • Hospital Universitario Virgen de las Nieves
        • Contact:
          • Antonio Cruz, MD
    • Huesca
      • Huesca, Huesca, Spain
        • Recruiting
        • Hospital San Jorge
        • Contact:
          • María Flor Yus Cebrián, MD
    • Jaén
      • Jaén, Jaén, Spain
        • Recruiting
        • Hospital de Jaen
        • Contact:
          • Juan Antonio López López, MD
    • León
      • Ponferrada, León, Spain
        • Recruiting
        • Hospital del Bierzo
        • Contact:
          • Erik de Cabo López, MD
    • Lleida
      • Lleida, Lleida, Spain
        • Recruiting
        • Hospital Arnau de Vilanova
        • Contact:
          • Antonio GARCIA GUIÑON, MD
    • Madrid
      • Madrid, Madrid, Spain, 28040
        • Recruiting
        • Hospital Universitario La Paz
        • Contact:
          • Marta Morado Arias, MD
          • Phone Number: +034 913191998
          • Email: sehh@sehh.es
      • Madrid, Madrid, Spain, 28040
        • Recruiting
        • Hospital Universitario Ramon y Cajal
        • Contact:
          • María del Mar Meijón Ortigueira, MD
      • Madrid, Madrid, Spain
        • Recruiting
        • Hospital Fundación Jiménez Díaz
        • Contact:
          • Amalia Domingo Gonzalez, MD
    • Málaga
      • Málaga, Málaga, Spain
        • Recruiting
        • Hospital Regional Universitario de Malaga
        • Contact:
          • Alejandro Contento Gonzalo, MD
    • Orense
      • Ourense, Orense, Spain
        • Recruiting
        • Complejo Hospitalario Universitario de Orense
        • Contact:
          • José Ángel Méndez Sánchez, MD
    • Pontevedra
      • Vigo, Pontevedra, Spain
        • Recruiting
        • Hospital Alvaro Cunqueiro
        • Contact:
          • Carmen Albo López, MD
    • Teruel
      • Alcañiz, Teruel, Spain
        • Recruiting
        • Hospital Alcañiz
        • Contact:
          • Andrés Medinaveitia, MD
    • Valencia
      • Valencia, Valencia, Spain
        • Recruiting
        • Hospital de Manises
        • Contact:
          • Dolores Gómez Toboso, MD
      • Valencia, Valencia, Spain
        • Recruiting
        • Hospital Universitario y Politecnico La Fe
        • Contact:
          • Javier de la Rubia, MD
    • Zaragoza
      • Valladolid, Zaragoza, Spain
        • Recruiting
        • Hospital Clinico Universitario de Valladolid
        • Contact:
          • Carmen Pérez Martínez, MD
    • Ávila
      • Ávila, Ávila, Spain
        • Recruiting
        • Complejo Asistencial de Ávila
        • Contact:
          • Abelardo Bárez García, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

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

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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)
36 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fundación Española de Hematología y Hemoterapía

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 30, 2023

Primary Completion (Actual)

December 31, 2025

Study Completion (Estimated)

May 1, 2026

Study Registration Dates

First Submitted

August 8, 2023

First Submitted That Met QC Criteria

August 8, 2023

First Posted (Actual)

August 15, 2023

Study Record Updates

Last Update Posted (Actual)

February 11, 2026

Last Update Submitted That Met QC Criteria

February 9, 2026

Last Verified

February 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GammaGA

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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