View clinical trials related to Acid Sphingomyelinase Deficiency.
Filter by: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.
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.
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. It has been described that 0.3% of hospital admissions is for this reason. 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. The objective of the present study is to increase the diagnostic sensitivity of these unknown splenomegalys, or unknown splenomegaly patients who remain in consultations, using the usual diagnostic clinical procedures of unknown splenomegaly and unknown splenectomy patients, where the investigators 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.
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a panel of additional conditions. The study has three primary objectives: 1) define the analytic and clinical validity of multi-tiered screening assays for a flexible panel of disorders, 2) determine disease incidence in an ethnically diverse population, and 3) assess the impact of early diagnosis on health outcomes. Over a five-year period, ScreenPlus aims to screen 175,000 infants born in nine high birthrate, ethnically diverse pilot hospitals in New York for a flexible panel of 14 rare genetic disorders. This study will also involve an evaluation of the Ethical, Legal and Social issues pertaining to NBS for complex disorders, which will be done via online surveys that will be directed towards ScreenPlus parents who opt to participate and qualitative interviews with families of infants who are identified through ScreenPlus.
Primary Objective: To assess prevalence of Gaucher disease (GD) diagnosed in pediatric patients presenting with unexplained splenomegaly (SMG) after exclusion of first intention-diagnoses (e.g. portal hypertension, haematological malignancy, hemolytic anemia, infection) based on clinical examination and routine biological tests (full blood count, reticulocytes, liver tests, abdominal ultrasound, Coombs test and Epstein Barr virus serology). Secondary Objectives: - To describe the rate of each identified disease category and the rate of patients with no final diagnosis at the end of the study in pediatric patients with unexplained SMG after exclusion of first intention diagnoses - To describe the characteristics (clinical, lab, genetics) of all pediatric patients included in the study and to describe the characteristics subdivided by identified disease category and absence of final diagnosis at the end of the study
The purpose of this study is to determine the safe range of single doses of rhASM administered to adults with ASM deficiency.