[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"acid-sphingomyelinase-deficiency\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:acid-sphingomyelinase-deficiency":62},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,49],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":27,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"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":20,"type":21},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.",[25,26],"Gaucher Disease","Acid SphingoMyelinase Deficiency",[28,29,30,31,32,33,34,35],"Gaucher disease","Acid sphingomyelinase deficiency","GD","ASMD","DBS","Splenomegaly","monoclonal gammopathies","multiple myeloma","RECRUITING","2026-02-09",{"date":39,"type":40},"2026-02-11","ACTUAL",{"date":42,"type":40},"2023-05-30",{"date":44,"type":21},"2026-05",{"name":46,"class":47},"Fundación Española de Hematología y Hemoterapía","OTHER",23,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":54,"acronym":4,"eligibilityCriteria":55,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":56,"enrollmentInfo":57,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":59,"conditions":60,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":63,"lastUpdatePostDateStruct":64,"startDateStruct":66,"completionDateStruct":68,"leadSponsor":70,"locationsCount":73},"100530883","a-real-world-long-term-safety-and-immunogenicity-study-of-olipudase-alfa-therapy-in-pediatric-patients-less-than-2-years-of-age-with-acid-sphingomyelinase-deficiency-asmd-100530883","NCT06192576","A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)","A Prospective Observational Study to Assess the Long-term Safety and Immunogenicity of Olipudase Alfa Therapy During Routine Clinical Care in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency","Inclusion Criteria:\n\n* The participant must have ASMD type A\u002FB or B and must be \\\u003C2 years of age at the time of treatment initiation, OR ASMD type A (without age restriction).\n* The participant must weigh ≥ 2 kg \\[The United States Prescribing Information (USPI)\\] for olipudase alfa specifies this minimum weight for infants receiving olipudase alfa).\n* The participant must have documented ASMD, as determined in peripheral leukocytes, cultured fibroblasts, or lymphocytes and\u002For by genotype determination.\n* Signed informed consent must be provided by the participant's parent(s)\u002Flegal guardian(s), including compliance with the requirements and restrictions listed in the informed consent form (ICF) and in this protocol. The signed ICF must be provided before any protocol-related procedures are performed.\n* The participant is eligible to start olipudase alfa enzyme replacement therapy or has received the first dose (and no more) of olipudase alfa, and has retrievable clinical, laboratory, and ADA data.\n\nExclusion Criteria:\n\n* The participant has received an investigational drug within 30 days or 5 drug half-lives before signature of the ICF and study enrollment.\n* The participant is not suitable for participation for reasons determined by the Investigator, including medical or clinical conditions, or potential risk of noncompliance with study procedures.\n* The participant is an immediate family member of employees of the study site or other individuals directly involved in study conduct, in conjunction with Section 1.61 of ICH-GCP Ordinance E6.","2 Years",{"count":58,"type":21},10,"US, multicenter, cohort, open label observational study with primary data collection. Ancillary protocol-specified procedures to address the study objectives (eg, assessment of ADA) may be considered outside the standard of care for acid sphingomyelinase deficiency (ASMD), but the study methodology remains non-interventional, as the additional collection of data from participants will not dictate treatment. The total overall study duration will be 5 years. The follow-up period will be a minimum of 1 year to a maximum of 3 years. The enrollment period will be up to 4 years, to allow a minimum of 1 year of follow-up for the last participant enrolled.",[61,62],"Niemann-Pick Diseases","Acid Sphingomyelinase Deficiency","2025-10-30",{"date":65,"type":40},"2025-10-31",{"date":67,"type":40},"2024-04-16",{"date":69,"type":21},"2029-01-15",{"name":71,"class":72},"Sanofi","INDUSTRY",5]