GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
NCT ID: NCT05992532
Last Updated: 2026-02-11
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
210 participants
OBSERVATIONAL
2023-05-30
2026-05-31
Brief Summary
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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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Detailed Description
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Conditions
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Study Design
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COHORT
CROSS_SECTIONAL
Eligibility Criteria
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Inclusion Criteria
* 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
* 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
18 Years
99 Years
ALL
No
Sponsors
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Fundación Española de Hematología y Hemoterapía
OTHER
Responsible Party
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Locations
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Hospital Universitario de Álava
Vitoria-Gasteiz, Alava, Spain
Hospital Universitario Torrecárdenas
Almería, Almería, Spain
Hospital Son Espases
Palma de Mallorca, Balearic Islands, Spain
Hospital Parc Taulí
Sabadell, Barcelona, Spain
Hospital Universitario de Burgos
Burgos, Burgos, Spain
Hospital de Valdepeñas
Valdepeñas, Ciudad Real, Spain
Hospital Universitario Dr. Josep Trueta
Girona, Girona, Spain
Hospital Universitario Virgen de las Nieves
Granada, Granada, Spain
Hospital San Jorge
Huesca, Huesca, Spain
Hospital de Jaén
Jaén, Jaén, Spain
Hospital del Bierzo
Ponferrada, León, Spain
Hospital Arnau de Vilanova
Lleida, Lleida, Spain
Hospital Universitario La Paz
Madrid, Madrid, Spain
Hospital Universitario Ramón y Cajal
Madrid, Madrid, Spain
Hospital Fundación Jiménez Díaz
Madrid, Madrid, Spain
Hospital Regional Universitario de Málaga
Málaga, Málaga, Spain
Complejo Hospitalario Universitario de Orense
Ourense, Orense, Spain
Hospital Alvaro Cunqueiro
Vigo, Pontevedra, Spain
Hospital Alcañiz
Alcañiz, Teruel, Spain
Hospital de Manises
Valencia, Valencia, Spain
Hospital Universitario y Politécnico La Fe
Valencia, Valencia, Spain
Hospital Clínico Universitario de Valladolid
Valladolid, Zaragoza, Spain
Complejo Asistencial de Ávila
Ávila, Ávila, Spain
Countries
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Central Contacts
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Facility Contacts
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Xabier Gutiérrez López de Ocáriz, MD
Role: primary
Alejandro Ponce Navarro, MD
Role: primary
Albert Pérez, MD
Role: primary
Marta Gomez Nuñez, MD
Role: primary
Beatriz Cuevas, MD
Role: primary
Yolanda González, MD
Role: primary
Antonio Cruz, MD
Role: primary
María Flor Yus Cebrián, MD
Role: primary
Juan Antonio López López, MD
Role: primary
Erik de Cabo López, MD
Role: primary
Antonio García Guiñón, MD
Role: primary
María del Mar Meijón Ortigueira, MD
Role: primary
Amalia Domingo Gonzalez, MD
Role: primary
Alejandro Contento Gonzalo, MD
Role: primary
José Ángel Méndez Sánchez, MD
Role: primary
Carmen Albo López, MD
Role: primary
Andrés Medinaveitia, MD
Role: primary
Dolores Gómez Toboso, MD
Role: primary
Javier de la Rubia, MD
Role: primary
Carmen Pérez Martínez, MD
Role: primary
Abelardo Bárez García, MD
Role: primary
Other Identifiers
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GammaGA
Identifier Type: -
Identifier Source: org_study_id
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