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Gaucher DiseaseNCT05992532

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

An observational study of Gaucher Disease and Acid SphingoMyelinase Deficiency, run by Fundación Española de Hematología y Hemoterapía at 23 sites in Spain.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
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Trial 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. Read more about this study

Who is it for?
Ages 18 to 99 years
How many people
210 participants
Where
23 sitesSpain
Study dates
30 May 2023to May 2026
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 to 99 years
  • All sexes
  • No healthy volunteers
  • Adult, Older adult

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

Who may be able to join

  • 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.

Who cannot join

  • 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

Trial locations and contacts

23 sites in 1 country. Contact the study team or a site near you to ask about taking part.

FEHH SEHH, MD contact

91 319 19 98

sehh@sehh.es

23 sites in 1 country

Spain23 sites, 23 recruiting

  • Hospital Alcañiz

    Alcañiz, Teruel

    Andrés Medinaveitia, MD

    Recruiting

  • Hospital Universitario Torrecárdenas

    Almería, Almería

    Alejandro Ponce Navarro, MD

    Recruiting

  • Complejo Asistencial de Ávila

    Ávila, Ávila

    Abelardo Bárez García, MD

    Recruiting

  • Hospital Universitario de Burgos

    Burgos, Burgos

    Beatriz Cuevas, MD

    Recruiting

  • Hospital Universitario Dr. Josep Trueta

    Girona, Girona

    Yolanda González, MD

    Recruiting

  • Hospital Universitario Virgen de las Nieves

    Granada, Granada

    Antonio Cruz, MD

    Recruiting

  • Hospital San Jorge

    Huesca, Huesca

    María Flor Yus Cebrián, MD

    Recruiting

  • Hospital de Jaén

    Jaén, Jaén

    Juan Antonio López López, MD

    Recruiting

  • Hospital Arnau de Vilanova

    Lleida, Lleida

    Antonio García Guiñón, MD

    Recruiting

  • Hospital Universitario La Paz

    Madrid, Madrid, 28040

    Marta Morado Arias, MD, +034 913191998, sehh@sehh.es

    Recruiting

  • Hospital Universitario Ramón y Cajal

    Madrid, Madrid, 28040

    María del Mar Meijón Ortigueira, MD

    Recruiting

  • Hospital Fundación Jiménez Díaz

    Madrid, Madrid

    Amalia Domingo Gonzalez, MD

    Recruiting

  • Hospital Regional Universitario de Málaga

    Málaga, Málaga

    Alejandro Contento Gonzalo, MD

    Recruiting

  • Complejo Hospitalario Universitario de Orense

    Ourense, Orense

    José Ángel Méndez Sánchez, MD

    Recruiting

  • Hospital Son Espases

    Palma de Mallorca, Balearic Islands

    Albert Pérez, MD

    Recruiting

  • Hospital del Bierzo

    Ponferrada, León

    Erik de Cabo López, MD

    Recruiting

  • Hospital Parc Taulí

    Sabadell, Barcelona

    Marta Gomez Nuñez, MD

    Recruiting

  • Hospital de Valdepeñas

    Valdepeñas, Ciudad Real, 28040

    Bolívar Luis Díaz Jordán, MD, +034 913191998, sehh@sehh.es

    Recruiting

  • Hospital de Manises

    Valencia, Valencia

    Dolores Gómez Toboso, MD

    Recruiting

  • Hospital Universitario y Politécnico La Fe

    Valencia, Valencia

    Javier de la Rubia, MD

    Recruiting

  • Hospital Clínico Universitario de Valladolid

    Valladolid, Zaragoza

    Carmen Pérez Martínez, MD

    Recruiting

  • Hospital Alvaro Cunqueiro

    Vigo, Pontevedra

    Carmen Albo López, MD

    Recruiting

  • Hospital Universitario de Álava

    Vitoria-Gasteiz, Alava

    Xabier Gutiérrez López de Ocáriz, MD

    Recruiting

Other trials in Spain

About this study

Official title: 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.

Keywords
Gaucher disease, Acid sphingomyelinase deficiency, GD, ASMD, DBS, Splenomegaly, monoclonal gammopathies, multiple myeloma
Medical subject headings
Gaucher Disease, Niemann-Pick Diseases, Splenomegaly, Paraproteinemias, Multiple Myeloma

What is being measured

The primary outcome is the main question the study is designed to answer.

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

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

    Measured: 36 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted15 Aug 2023
  2. Study start30 May 2023
  3. Primary completion31 Dec 2025
  4. Study completionMay 2026 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Cross-sectional
Enrolment
210 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT05992532
Sponsor's protocol ID
GammaGA
Status last verified
Feb 2026
First submitted
8 Aug 2023
Last updated
11 Feb 2026
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No

Questions about this trial

What is this clinical trial studying?

An observational study of Gaucher Disease and Acid SphingoMyelinase Deficiency, run by Fundación Española de Hematología y Hemoterapía at 23 sites in Spain.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 11 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 23 sites in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact FEHH SEHH, MD (91 319 19 98, sehh@sehh.es), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) (time frame: 36 months). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT05992532.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Feb 2026.

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