Ignite Creation Date:
2025-12-24 @ 9:24 PM
Ignite Modification Date:
2026-01-01 @ 12:52 PM
Study NCT ID:
NCT05992532
Status:
RECRUITING
Last Update Posted:
2025-12-09
First Post:
2023-08-08
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D005776', 'term': 'Gaucher Disease'}, {'id': 'D009542', 'term': 'Niemann-Pick Diseases'}, {'id': 'D013163', 'term': 'Splenomegaly'}, {'id': 'D010265', 'term': 'Paraproteinemias'}, {'id': 'D009101', 'term': 'Multiple Myeloma'}], 'ancestors': [{'id': 'D013106', 'term': 'Sphingolipidoses'}, {'id': 'D020140', 'term': 'Lysosomal Storage Diseases, Nervous System'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D015616', 'term': 'Histiocytosis, Non-Langerhans-Cell'}, {'id': 'D015614', 'term': 'Histiocytosis'}, {'id': 'D008206', 'term': 'Lymphatic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D006984', 'term': 'Hypertrophy'}, {'id': 'D020763', 'term': 'Pathological Conditions, Anatomical'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D001796', 'term': 'Blood Protein Disorders'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D007160', 'term': 'Immunoproliferative Disorders'}, {'id': 'D007154', 'term': 'Immune System Diseases'}, {'id': 'D054219', 'term': 'Neoplasms, Plasma Cell'}, {'id': 'D009370', 'term': 'Neoplasms by Histologic Type'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D020141', 'term': 'Hemostatic Disorders'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D006474', 'term': 'Hemorrhagic Disorders'}, {'id': 'D008232', 'term': 'Lymphoproliferative Disorders'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 210}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2023-05-30', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-12', 'completionDateStruct': {'date': '2026-03', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-12-02', 'studyFirstSubmitDate': '2023-08-08', 'studyFirstSubmitQcDate': '2023-08-08', 'lastUpdatePostDateStruct': {'date': '2025-12-09', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2023-08-15', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)', 'timeFrame': '36 months', 'description': 'Determinate the prevalence of Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD)'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Gaucher disease', 'Acid sphingomyelinase deficiency', 'GD', 'ASMD', 'DBS', 'Splenomegaly', 'monoclonal gammopathies', 'multiple myeloma'], 'conditions': ['Gaucher Disease', 'Acid SphingoMyelinase Deficiency']}, 'descriptionModule': {'briefSummary': '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.\n\nSeveral 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.\n\nThe 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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '99 Years', 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '* Adult patients of both sexes.\n* 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.\n* Splenectomy patient with no diagnosis of the origin of the splenomegaly of unknown origin.\n* 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', 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Adult patients of both sexes.\n* 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.\n* Patient who gives their consent to participate in the study.\n\nExclusion Criteria:\n\n* Splenomegaly due to portal hypertension (documented by abdominal ultrasound or other instrumental test) due to liver disease\n* Hematologic malignancy \\[documented by positive physical exam + blood smear or fine needle aspiration (FNA) or bone marrow biopsy\\]\n* Hemolytic anemia and/or thalassemia\n* 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\n* Refusal of the patient to participate in the study'}, 'identificationModule': {'nctId': 'NCT05992532', 'briefTitle': 'GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma', 'organization': {'class': 'OTHER', 'fullName': 'Fundación Española de Hematología y Hemoterapía'}, 'officialTitle': 'GammaGA: Study of the Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma', 'orgStudyIdInfo': {'id': 'GammaGA'}}, 'contactsLocationsModule': {'locations': [{'city': 'Vitoria-Gasteiz', 'state': 'Alava', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Xabier Gutiérrez López de Ocáriz, MD', 'role': 'CONTACT'}], 'facility': 'Hospital Universitario de Álava', 'geoPoint': {'lat': 42.84998, 'lon': -2.67268}}, {'city': 'Almería', 'state': 'Almería', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Alejandro Ponce Navarro, MD', 'role': 'CONTACT'}], 'facility': 'Hospital Universitario Torrecárdenas', 'geoPoint': {'lat': 36.83814, 'lon': -2.45974}}, {'city': 'Palma de Mallorca', 'state': 'Balearic Islands', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Albert Pérez, MD', 'role': 'CONTACT'}], 'facility': 'Hospital Son Espases', 'geoPoint': {'lat': 39.56939, 'lon': 2.65024}}, {'city': 'Sabadell', 'state': 'Barcelona', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Marta Gomez Nuñez, MD', 'role': 'CONTACT'}], 'facility': 'Hospital Parc Taulí', 'geoPoint': {'lat': 41.54329, 'lon': 2.10942}}, {'city': 'Burgos', 'state': 'Burgos', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Beatriz Cuevas, MD', 'role': 'CONTACT'}], 'facility': 'Hospital Universitario de Burgos', 'geoPoint': {'lat': 42.34106, 'lon': -3.70184}}, {'zip': '28040', 'city': 'Valdepeñas', 'state': 'Ciudad Real', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Bolívar Luis Díaz Jordán, MD', 'role': 'CONTACT', 'email': 'sehh@sehh.es', 'phone': '+034 913191998'}], 'facility': 'Hospital de Valdepeñas', 'geoPoint': {'lat': 38.76211, 'lon': -3.38483}}, {'city': 'Girona', 'state': 'Girona', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Yolanda González, MD', 'role': 'CONTACT'}], 'facility': 'Hospital Universitario Dr. Josep Trueta', 'geoPoint': {'lat': 41.98311, 'lon': 2.82493}}, {'city': 'Granada', 'state': 'Granada', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Antonio Cruz, MD', 'role': 'CONTACT'}], 'facility': 'Hospital Universitario Virgen de las Nieves', 'geoPoint': {'lat': 37.18817, 'lon': -3.60667}}, {'city': 'Huesca', 'state': 'Huesca', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'María Flor Yus Cebrián, MD', 'role': 'CONTACT'}], 'facility': 'Hospital San Jorge', 'geoPoint': {'lat': 42.13615, 'lon': -0.4087}}, {'city': 'Jaén', 'state': 'Jaén', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Juan Antonio López López, MD', 'role': 'CONTACT'}], 'facility': 'Hospital de Jaén', 'geoPoint': {'lat': 37.76922, 'lon': -3.79028}}, {'city': 'Ponferrada', 'state': 'León', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Erik de Cabo López, MD', 'role': 'CONTACT'}], 'facility': 'Hospital del Bierzo', 'geoPoint': {'lat': 42.54664, 'lon': -6.59619}}, {'city': 'Lleida', 'state': 'Lleida', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Antonio García Guiñón, MD', 'role': 'CONTACT'}], 'facility': 'Hospital Arnau de Vilanova', 'geoPoint': {'lat': 41.61674, 'lon': 0.62218}}, {'zip': '28040', 'city': 'Madrid', 'state': 'Madrid', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Marta Morado Arias, MD', 'role': 'CONTACT', 'email': 'sehh@sehh.es', 'phone': '+034 913191998'}], 'facility': 'Hospital Universitario La Paz', 'geoPoint': {'lat': 40.4165, 'lon': -3.70256}}, {'zip': '28040', 'city': 'Madrid', 'state': 'Madrid', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'María del Mar Meijón Ortigueira, MD', 'role': 'CONTACT'}], 'facility': 'Hospital Universitario Ramón y Cajal', 'geoPoint': {'lat': 40.4165, 'lon': -3.70256}}, {'city': 'Madrid', 'state': 'Madrid', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Amalia Domingo Gonzalez, MD', 'role': 'CONTACT'}], 'facility': 'Hospital Fundación Jiménez Díaz', 'geoPoint': {'lat': 40.4165, 'lon': -3.70256}}, {'city': 'Málaga', 'state': 'Málaga', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Alejandro Contento Gonzalo, MD', 'role': 'CONTACT'}], 'facility': 'Hospital Regional Universitario de Málaga', 'geoPoint': {'lat': 36.72016, 'lon': -4.42034}}, {'city': 'Ourense', 'state': 'Orense', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'José Ángel Méndez Sánchez, MD', 'role': 'CONTACT'}], 'facility': 'Complejo Hospitalario Universitario de Orense', 'geoPoint': {'lat': 42.33669, 'lon': -7.86407}}, {'city': 'Vigo', 'state': 'Pontevedra', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Carmen Albo López, MD', 'role': 'CONTACT'}], 'facility': 'Hospital Alvaro Cunqueiro', 'geoPoint': {'lat': 42.23282, 'lon': -8.72264}}, {'city': 'Alcañiz', 'state': 'Teruel', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Andrés Medinaveitia, MD', 'role': 'CONTACT'}], 'facility': 'Hospital Alcañiz', 'geoPoint': {'lat': 41.05, 'lon': -0.13333}}, {'city': 'Valencia', 'state': 'Valencia', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Dolores Gómez Toboso, MD', 'role': 'CONTACT'}], 'facility': 'Hospital de Manises', 'geoPoint': {'lat': 39.47391, 'lon': -0.37966}}, {'city': 'Valencia', 'state': 'Valencia', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Javier de la Rubia, MD', 'role': 'CONTACT'}], 'facility': 'Hospital Universitario y Politécnico La Fe', 'geoPoint': {'lat': 39.47391, 'lon': -0.37966}}, {'city': 'Valladolid', 'state': 'Zaragoza', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Carmen Pérez Martínez, MD', 'role': 'CONTACT'}], 'facility': 'Hospital Clínico Universitario de Valladolid', 'geoPoint': {'lat': 41.65541, 'lon': -4.72353}}, {'city': 'Ávila', 'state': 'Ávila', 'status': 'RECRUITING', 'country': 'Spain', 'contacts': [{'name': 'Abelardo Bárez García, MD', 'role': 'CONTACT'}], 'facility': 'Complejo Asistencial de Ávila', 'geoPoint': {'lat': 40.65724, 'lon': -4.69951}}], 'centralContacts': [{'name': 'FEHH SEHH, MD', 'role': 'CONTACT', 'email': 'sehh@sehh.es', 'phone': '91 319 19 98'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Fundación Española de Hematología y Hemoterapía', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}