Niemann-Pick Diseases (Niemann Pick Disease)

A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.

Also Known As:

Networked: 328 relevant articles (6 outcomes, 23 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Central Nervous System Diseases (CNS Diseases)
2.	Gaucher Disease (Gaucher's Disease)
3.	Mucolipidoses (Sialidosis)
4.	Lysosomal Storage Diseases (Lysosomal Storage Disease)
5.	Mucopolysaccharidoses

Experts

1.	Schuchman, Edward H: 32 articles (03/2015 - 05/2002)
2.	Schuchman, E H: 10 articles (01/2009 - 10/2000)
3.	Sandhoff, Konrad: 7 articles (09/2015 - 08/2003)
4.	He, Xingxuan: 7 articles (07/2010 - 07/2002)
5.	Wasserstein, Melissa P: 6 articles (09/2015 - 07/2004)
6.	Muro, Silvia: 6 articles (08/2014 - 01/2006)
7.	McGovern, Margaret M: 6 articles (08/2013 - 07/2002)
8.	Thurberg, Beth L: 5 articles (09/2015 - 05/2009)
9.	Dhami, Rajwinder: 5 articles (05/2008 - 03/2003)
10.	Gatt, Shimon: 5 articles (06/2007 - 09/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Niemann-Pick Diseases:

1.	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 10/01/2000 - "Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease." 05/01/2009 - "Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick disease." 01/01/1999 - "Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase-deficient mice: implications for Niemann-Pick disease gene therapy and the development of improved stem cell gene transfer procedures." 01/05/2001 - "Although studies using lymphoblasts from Niemann-Pick disease patients or acid sphingomyelinase (ASMase)-deficient mice have provided genetic support for this hypothesis, these models have not been universally accepted as definitive. " 09/01/1987 - "Transitory type of sphingomyelinase deficient Niemann-Pick disease: clinical and morphological studies and follow-up of two sisters."
2.	neodymium pyrocatechin disulfonate (NPD)IBA 07/01/2009 - "The aim of our study was to examine the pathological changes occurring in the PNS and in the spinal cord in an AMSKO model of Niemann-Pick disease (NPD) Type A. " 01/01/1985 - "A complex neuropathological study of two cases of Niemann-Pick disease (NPD) type C (NPDC) revealed some novel features in the chemical pathology of the neuronal storage. " 12/19/1975 - "A histochemical study is reported of regional differences of the lipid storage in a case of Niemann-Pick disease (NPD) type C. " 12/01/2015 - "Niemann-Pick disease (NPD) is a rare syndrome caused by abnormal intracellular sphingomyelin lipid storage in cells known as "Pick cells." NPD can start in childhood or develop insidiously, with a predilection for reticuloendothelial cells and the nervous system. " 03/01/2015 - "Patients with ASM deficiency are classified as having types A and B Niemann-Pick disease (NPD). "
3.	CholesterolIBA 09/01/2015 - "It also accumulates in Niemann-Pick disease types A and B with primary storage of SM and with cholesterol in type C. " 09/01/2013 - "JNJ-26854165 induced induction of cholesterol regulatory genes, sterol regulatory element-binding transcription factor-1 and -2, liver X receptors α and β, along with increased expression of Niemann-Pick disease type-C1 and -C2. " 02/01/2004 - "The niemann-pick disease genes; regulators of cellular cholesterol homeostasis." 05/01/2001 - "Niemann Pick disease is a family of autosomal recessive disorders characterized by cholesterol accumulation. " 01/01/1991 - "Within Niemann-Pick diseases, type C has now been demonstrated to be a nosological entity totally distinct from types A and B, and is best characterized at present by unique abnormalities of intracellular translocation of exogenous cholesterol, which are briefly reviewed. "
4.	Intercellular Adhesion Molecule-1 (Intercellular Adhesion Molecule 1)IBA 01/01/2006 - "Anti-ICAM/ASM nanocarriers, but not control ASM or ASM nanocarriers, bound to ICAM-1-positive cells (activated endothelial cells and Niemann-Pick disease patient fibroblasts) via ICAM-1, in a glycosylation-independent manner. " 01/01/2006 - "Therefore, lysosomal enzyme targeting using nanocarriers targeted to ICAM-1 bypasses defunct pathways and may improve the efficacy of enzyme replacement therapy for lysosomal disorders, such as Niemann-Pick disease." 01/01/2006 - "We targeted recombinant human acid sphingomyelinase (ASM), deficient in types A and B Niemann-Pick disease, to ICAM-1 by loading this enzyme to nanocarriers coated with anti-ICAM. " 05/01/2013 - "To comparatively assess this, we used antibodies vs. larger multivalent antibody-coated carriers and evaluated TfR vs. ICAM-1 binding and endocytosis in endothelial cells, as well as in vivo biodistribution and delivery of a model lysosomal enzyme required in peripheral organs and brain: acid sphingomyelinase (ASM), deficient in types A-B Niemann Pick disease. "
5.	Sphingomyelin lipidosisIBA 01/01/2005 - "A multi-approach study in a series of 25 Czech and Slovak patients with acid sphingomyelinase deficiency revealed a broad phenotypic variability within Niemann-Pick disease types A and B. " 06/01/1987 - "An animal model of human acid sphingomyelinase deficiency (Niemann-Pick disease) and the study of its enzyme replacement (the Japan Society of Human Genetics award lecture)." 08/01/2013 - "Sphingomyelin lipidosis (Niemann-Pick disease) in a juvenile raccoon (Procyon lotor)." 03/01/2008 - "Sphingomyelinase deficiency (Niemann-Pick disease) in a Hereford calf." 10/01/2006 - "Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease."
6.	LipidsIBA 01/01/2007 - "Niemann-Pick disease is defined as a lysosomal storage disorder and is related to impaired transport and/or accumulation of specific lipids inside the cell. " 12/01/1973 - "Brain lipids of a case of juvenile Niemann-Pick disease." 01/01/2006 - "The crucial role of lipids in cell signaling and tissue physiology is demonstrated by the many neurological disorders, including bipolar disorders and schizophrenia, and neurodegenerative diseases such as Alzheimer's, Parkinson's, and Niemann-Pick diseases, that involve deregulated lipid metabolism. " 11/01/1983 - "A histochemical study of lipids in bone marrow smears was performed in a series of 15 cases of Niemann-Pick disease (NPD). " 11/01/1991 - "The characteristic stored lipids cholesterol ester and sphingomyelin were seen in excess in human fibroblast cultures from patients with Wolman's disease and Niemann-Pick disease, respectively. "
7.	Proteins (Proteins, Gene)IBA 11/01/2015 - "In this study, the effects of low-dose-rate chronic radiation on male mice were investigated by measuring the levels of tight-junction-associated proteins (ZO-1 and occludin-1), Niemann-Pick disease type 2 protein (NPC-2) and antisperm antibody (AsAb) in serum. " 06/01/2015 - "Lysosomal storage disorders are a group of disorders including Gaucher disease, Niemann-Pick disease, and neuronal ceroid lipofuscinoses caused by the defective activity of lysosomal and nonlysosomal proteins. " 09/01/1957 - "Niemann-Pick disease in a boy of 16 months; electrophoretic study of blood serum proteins and lipoproteins following various types of therapy." 08/30/2012 - "Disp and Scube recognize different structural aspects of cholesterol similarly to how Niemann-Pick disease proteins 1 and 2 interact with cholesterol, suggesting a hand-off mechanism for transferring Hh from Disp to Scube. " 06/20/1995 - "Since the expression of many proteins with diverse functions is known to be regulated by AP-1, SPC-induced activation of AP-1 may contribute to the pathophysiology of Niemann-Pick disease."
8.	Lipoproteins (Lipoprotein)IBA 09/01/2003 - "Infrequent renal pathological entities were also diagnosed in this group, including Niemann Pick disease, Fabry's disease, POEMS syndrome, and lipoprotein glomerulonephropathy. " 09/01/1957 - "Niemann-Pick disease in a boy of 16 months; electrophoretic study of blood serum proteins and lipoproteins following various types of therapy." 01/01/1994 - "The severe infantile form of Niemann-Pick disease type II was diagnosed in a 4-year-old girl and confirmed by demonstrating in cultured skin fibroblasts a deficiency of low-density lipoprotein-stimulated cholesterol ester synthesis of < 5% of normal. " 07/01/1987 - "Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts." 07/11/2003 - "Mutations in the Niemann-Pick disease genes cause lysosomal cholesterol accumulation and impaired low density lipoprotein (LDL) cholesterol esterification. "
9.	EnzymesIBA 01/01/1982 - "Low activity levels of enzymes were found in leukocyte fractions of peripheral blood from patients screened for Niemann-Pick disease. " 01/06/1967 - "The level of activity of these respective enzymes is markedly decreased in leukocyte preparations obtained from patients with Gaucher's and Niemann-Pick diseases. " 01/01/2014 - "All subjects were screened for I-cell disease, glycolipid storage disorders (Niemann-Pick disease A/B, Gaucher), and mucopolysaccharide disorders followed by confirmatory lysosomal enzymes study from leucocytes and/or fibroblasts. " 05/03/2010 - "Together with endosomal and lysosomal lipid-binding proteins, the Niemann-Pick disease, type C2-protein, the GM2-activator, and the saposins sap-A, -B, -C, and -D, a suitable membrane lipid composition is required for degradation of complex lipids by hydrolytic enzymes." 08/29/2001 - "To date, two distinct sphingomyelinases, a lysosomal acid sphingomyelinase (ASM), which is deficient in patients affected with types A and B Niemann-Pick disease (NPD), and a neutral, magnesium-dependent sphingomyelinase (NSM), are candidate enzymes which respond to apoptotic stimulations and cause sphingomyelin hydrolysis and subsequent ceramide generation. "
10.	Phosphatidylcholines (Phosphatidylcholine)IBA 02/01/2011 - "Niemann-Pick disease and drug-induced phospholipidosis are examples of lysosomal storage disorders in which serious respiratory infections are brought on by high levels of the phospholipid phosphatidylcholine in the acidic lamellar bodies and lysosomes of pulmonary cells. " 11/01/1983 - "By using cell lines from controls and from patients with Niemann-Pick disease and other lysosomal storage diseases, it was concluded that a significant portion (10-15%) of the observed degradation of sphingomyelin is due to exchange of the phosphocholine moiety producing phosphatidylcholine. " 11/01/1983 - "Studies with choline-labeled sphingomyelin and phosphatidylcholine demonstrated that phosphocholine exchange takes place in either direction in the cells, and this is normal in Niemann-Pick disease. " 01/01/1984 - "Inhibition of sphingomyelinase by phosphatidylcholine or by a synthetic ceramide, N-palmitoyl-DL-dihydrosphingosine, interferes substantially with virus reproduction as does a genetic defect in the enzyme (Niemann-Pick disease). " 01/01/1983 - "Deficiency of taurocholate-dependent phospholipase C acting on phosphatidylcholine in Niemann-Pick disease."

Therapies and Procedures

1.	Enzyme Replacement Therapy 01/01/2006 - "Therefore, lysosomal enzyme targeting using nanocarriers targeted to ICAM-1 bypasses defunct pathways and may improve the efficacy of enzyme replacement therapy for lysosomal disorders, such as Niemann-Pick disease." 09/01/2015 - "Olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is an investigational enzyme replacement therapy (ERT) for patients with ASM deficiency [ASMD; Niemann-Pick Disease (NPD) A and B]. " 02/01/2015 - "Recombinant human acid sphingomyelinase (rhASM) is being developed as an enzyme replacement therapy for patients with acid sphingomyelinase deficiency (Niemann-Pick disease types A and B), which causes sphingomyelin to accumulate in lysosomes. " 01/09/2004 - "Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy."
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 04/15/1998 - "In the present study, we evaluated whether bone marrow transplantation (BMT) carried out on newborn ASMKO mice could prevent or alter the Niemann-Pick disease phenotype. " 01/01/2003 - "Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant." 01/01/1992 - "We conclude that despite some success in other neurovisceral lysosomal storage disorders, bone marrow transplantation is not likely to be an adequate treatment for Niemann-Pick disease Type IA." 01/01/1992 - "Allogeneic bone marrow transplantation for Niemann-Pick disease (type IA)." 04/01/1990 - "These results suggest that bone marrow transplantation either alone or with liver transplantation may become a useful strategy for the treatment of Niemann-Pick disease provided the central nervous system is not involved."
3.	Subcutaneous Infusions 03/01/1997 - "Variations of platelet aggregation and plasma levels of clotting factors V, IX, XI, and XII were studied in 5 patients with Niemann-Pick disease type Is in the course of a 3-year study of treatment with periodic subcutaneous infusions of amniotic epithelial cells. "
4.	Liver Transplantation 12/01/2015 - "Liver Transplantation in Patients With Niemann-Pick Disease - Single-Center Experience." 03/01/2012 - "Liver transplantation in a patient with Niemann-Pick disease and pulmonary involvement." 04/01/1990 - "Allogeneic bone marrow-plus-liver transplantation in the C57BL/KsJ spm/spm mouse, an animal model of Niemann-Pick disease." 04/01/1990 - "These results suggest that bone marrow transplantation either alone or with liver transplantation may become a useful strategy for the treatment of Niemann-Pick disease provided the central nervous system is not involved."
5.	Stem Cell Transplantation 01/01/2009 - "Stem cell transplantation was performed for various diseases including acute myelogenous leukemia, acute lymphoblastic leukemia, chronic myelogenous leukemia, chronic lymphoblastic leukemia, thalassemia major, sickle cell thalassemia, sickle cell disease, multiple myeloma, myelodysplasia, mucopolysaccharidosis, paroxysmal nocturnal hemoglobinuria, non-Hodgkin's lymphoma, Hodgkin's disease, severe aplastic anemia, plasma cell leukemia, Niemann-Pick disease, Fanconi anemia, severe combine immunodeficiency, congenital neutropenia, leukocyte adhesion deficiencies, Chediak-Higashi syndrome, osteopetrosis, histiocytosis X, Hurler syndrome, amyloidosis, systemic sclerosis, breast cancer, Ewing's sarcoma, testicular cancer, germ cell tumors, neuroblastoma, medulloblastoma, renal cell carcinoma, nasopharyngeal carcinoma, ovarian cancer, Wilms' tumor, rhabdomyosarcoma, pancreatoblastoma, and multiple sclerosis. " 02/01/2013 - "Stem cell transplantation was performed for treatment of various diseases such as acute myelogenous leukemia, acute lymphoblastic leukemia, chronic myelogenous leukemia, chronic lymphoblastic leukemia, beta-thalassemia major, sickle- cell thalassemia, sickle- cell disease, multiple myeloma, myelodysplasia, mucopolysaccharidosis, paroxysmal nocturnal hemoglobinuria, non-Hodgkin's lymphoma, Hodgkin's disease, severe aplastic anemia, plasma cell leukemia, Niemann-Pick disease, Fanconi anemia, severe combined immunodeficiency, congenital neutropenia, leukocyte adhesion deficiencies, Chediak-Higashi syndrome, osteopetrosis, histiocytosis X, Hurler syndrome, amyloidosis, systemic sclerosis, breast cancer, Ewing's sarcoma, testicular cancer, germ cell tumors, neuroblastoma, medulloblastoma, renal cell carcinoma, nasopharyngeal carcinoma, ovarian cancer, Wilms' tumor, rhabdomyosarcoma, pancreatoblastoma, and multiple sclerosis. "