Acid Sphingomyelinase Deficiency (ASMD) Overview
Learn About Acid Sphingomyelinase Deficiency (ASMD)
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However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.
Montefiore Medical Center
Melissa Wasserstein is a Medical Genetics specialist and a Pediatrics provider in Bronx, New York. Dr. Wasserstein is rated as an Elite provider by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). Her top areas of expertise are Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Reticulohistiocytoma, and Splenomegaly.
Eugen Mengel practices in Hochheim, Germany. Mr. Mengel is rated as an Elite expert by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). His top areas of expertise are Niemann-Pick Disease, Acid Sphingomyelinase Deficiency (ASMD), Non-Langerhans-Cell Histiocytosis, and Reticulohistiocytoma.
Maurizio Scarpa practices in Udine, Italy. Mr. Scarpa is rated as an Elite expert by MediFind in the treatment of Acid Sphingomyelinase Deficiency (ASMD). His top areas of expertise are Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Non-Langerhans-Cell Histiocytosis, and Heart Transplant.
Summary: 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 ...
Summary: The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.