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98","sehh@sehh.es",[15,31,42,54,66,77,91,102,113,124,135,147,158,169,177,185,196,208,220,232,243,251,263],{"facility":16,"status":17,"city":18,"state":19,"zip":7,"country":20,"countryCode":21,"cosmosGeoPoint":22,"geoPoint":27,"contacts":28},"Hospital Universitario de Álava","RECRUITING","Vitoria-Gasteiz","Alava","Spain","ES",{"type":23,"coordinates":24},"Point",[25,26],-2.67268,42.84998,{"lat":26,"lon":25},[29],{"name":30,"role":11,"phone":7,"phoneExt":7,"email":7},"Xabier Gutiérrez López de Ocáriz, MD",{"facility":32,"status":17,"city":33,"state":33,"zip":7,"country":20,"countryCode":21,"cosmosGeoPoint":34,"geoPoint":38,"contacts":39},"Hospital Universitario Torrecárdenas","Almería",{"type":23,"coordinates":35},[36,37],-2.45974,36.83814,{"lat":37,"lon":36},[40],{"name":41,"role":11,"phone":7,"phoneExt":7,"email":7},"Alejandro Ponce Navarro, 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Díaz",{"type":23,"coordinates":180},[163,164],{"lat":164,"lon":163},[183],{"name":184,"role":11,"phone":7,"phoneExt":7,"email":7},"Amalia Domingo Gonzalez, MD",{"facility":186,"status":17,"city":187,"state":187,"zip":7,"country":20,"countryCode":21,"cosmosGeoPoint":188,"geoPoint":192,"contacts":193},"Hospital Regional Universitario de Málaga","Málaga",{"type":23,"coordinates":189},[190,191],-4.42034,36.72016,{"lat":191,"lon":190},[194],{"name":195,"role":11,"phone":7,"phoneExt":7,"email":7},"Alejandro Contento Gonzalo, MD",{"facility":197,"status":17,"city":198,"state":199,"zip":7,"country":20,"countryCode":21,"cosmosGeoPoint":200,"geoPoint":204,"contacts":205},"Complejo Hospitalario Universitario de Orense","Ourense","Orense",{"type":23,"coordinates":201},[202,203],-7.86407,42.33669,{"lat":203,"lon":202},[206],{"name":207,"role":11,"phone":7,"phoneExt":7,"email":7},"José Ángel Méndez Sánchez, 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Manises","Valencia",{"type":23,"coordinates":236},[237,238],-0.37966,39.47391,{"lat":238,"lon":237},[241],{"name":242,"role":11,"phone":7,"phoneExt":7,"email":7},"Dolores Gómez Toboso, MD",{"facility":244,"status":17,"city":234,"state":234,"zip":7,"country":20,"countryCode":21,"cosmosGeoPoint":245,"geoPoint":247,"contacts":248},"Hospital Universitario y Politécnico La Fe",{"type":23,"coordinates":246},[237,238],{"lat":238,"lon":237},[249],{"name":250,"role":11,"phone":7,"phoneExt":7,"email":7},"Javier de la Rubia, MD",{"facility":252,"status":17,"city":253,"state":254,"zip":7,"country":20,"countryCode":21,"cosmosGeoPoint":255,"geoPoint":259,"contacts":260},"Hospital Clínico Universitario de Valladolid","Valladolid","Zaragoza",{"type":23,"coordinates":256},[257,258],-4.72353,41.65541,{"lat":258,"lon":257},[261],{"name":262,"role":11,"phone":7,"phoneExt":7,"email":7},"Carmen Pérez Martínez, MD",{"facility":264,"status":17,"city":265,"state":265,"zip":7,"country":20,"countryCode":21,"cosmosGeoPoint":266,"geoPoint":270,"contacts":271},"Complejo Asistencial de Ávila","Ávila",{"type":23,"coordinates":267},[268,269],-4.69951,40.65724,{"lat":269,"lon":268},[272],{"name":273,"role":11,"phone":7,"phoneExt":7,"email":7},"Abelardo Bárez García, MD",{"type":275,"investigatorFullName":7,"investigatorTitle":7,"investigatorAffiliation":7,"oldNameTitle":7,"oldOrganization":7},"SPONSOR","100515517","gammaga-prevalence-of-acid-sphingomyelinase-deficiency-disease-asmd-and-gaucher-disease-in-patients-with-monoclonal-gammopathies-andor-multiple-myeloma-100515517",false,"NCT05992532","GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and\u002For Multiple Myeloma","GammaGA: Study of the Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and\u002For Multiple Myeloma","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\u002For thalassemia\n* Patients who cannot meet the requirements of the protocol due to mental and\u002For cognitive alterations, uncooperative patients, educational limitations and understanding of written language\n* Refusal of the patient to participate in the study","ALL","18 Years","99 Years",{"count":287,"type":288},210,"ESTIMATED","OBSERVATIONAL","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\u002For 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\u002Fgenetic activity will be carried out for Gaucher disease (GD) and acid sphingomyelinase deficiency (ASMD) , analysis of LisoGl1 and LisoSM.",[292,293],"Gaucher Disease","Acid SphingoMyelinase Deficiency",[295,296,297,298,299,300,301,302],"Gaucher disease","Acid sphingomyelinase deficiency","GD","ASMD","DBS","Splenomegaly","monoclonal gammopathies","multiple myeloma","2026-02-09",{"date":305,"type":306},"2026-02-11","ACTUAL",{"date":308,"type":306},"2023-05-30",{"date":310,"type":288},"2026-05",{"name":5,"class":6},23]