Lysosomal storage diseases nervous system. Medical search. Frequent questions

Lysosomal storage diseases are caused by the accumulation of macromolecules (proteins, polysaccharides, lipids) in the lysosomes because of a genetic failure to manufacture an enzyme needed for their breakdown. (biology-pages.info)
However, one lysosomal storage disease, I-cell disease ("inclusion-cell disease"), is caused by a failure to "tag" (by phosphorylation) all the hydrolytic enzymes that are supposed to be transported from the Golgi apparatus to the lysosomes. (biology-pages.info)
Several degenerative diseases designated as lysosomal storage disorders (LSDs) are associated with the accumulation of material within lysosomes. (stanford.edu)
In cell culture, HP-b-CD ameliorates cholesterol storage in endo/lysosomes, a hallmark of the disorder. (bvsalud.org)
Niemann-Pick type C1 (NP-C1) is a lysosomal storage disease (LSD) caused by mutations in NPC1 gene that lead to defective synthesis of the respective lysosomal transporter protein and cholesterol accumulation in late endosomes/lysosomes (LE/L) compartments, as well as glycosphingolipids GM2 and GM3 in the central nervous system (CNS). (bvsalud.org)
Disorders in which intracellular material that cannot be metabolized is stored in lysosomes are called lysosomal storage diseases. (nih.gov)
Lysosomes play a central role in cellular homeostasis and alterations in this compartment associate with many diseases. (ibecbarcelona.eu)
Because reticuloendothelial cells (eg, in the spleen) are rich in lysosomes, reticuloendothelial tissues are involved in a number of lysosomal storage disorders, but, generally, tissues richest in the substrate are most affected. (msdmanuals.com)
Enzyme deficiencies that prevent glycosaminoglycan breakdown cause accumulation of glycosaminoglycan fragments in lysosomes and cause extensive bone, soft tissue, and central nervous system changes. (msdmanuals.com)

Tay-Sachs disease, Neimann-Pick disease and Gaucher disease are some of the more common LSDs. (stanford.edu)
As a model for LSDs we are studying the lysosomal free sialic acid storage disorders. (stanford.edu)
Lysosomal storage diseases (LSDs) often manifest with severe systemic and central nervous system (CNS) symptoms. (ox.ac.uk)
HSP70 treatment reversed lysosomal pathology in primary fibroblasts from 14 patients with eight different LSDs. (ox.ac.uk)
Oral administration of arimoclomol, a small-molecule coinducer of HSPs that is currently in clinical trials for Niemann-Pick disease type C (NPC), recapitulated the effects of recombinant human HSP70, suggesting that heat shock protein-based therapies merit clinical evaluation for treating LSDs. (ox.ac.uk)
The research goal of the Pan Laboratory is to combine translational and basic research on virus-mediated, in vivo and ex vivo, gene transfer into stem cells, as well as their potential application for gene therapy of patients with lysosomal storage diseases (LSDs). (cincinnatichildrens.org)
The Pan Lab particularly focuses, among more than 50 LSDs, on the mucopolysaccharidoses (MPS) disorders , where the manifestations in the central nervous system (CNS) remain untreatable, largely due to the impermeability of the blood-brain barrier (BBB) to large molecules including lysosomal enzymes. (cincinnatichildrens.org)
Lysosomal storage diseases (LSDs) are a set of inborn errors of metabolism characterized by deficiencies in acid hydrolases that lead to substrate accumulation in cells and decreased or absent formation of downstream products. (trincoll.edu)
in the second, the authors used primary fibroblasts from patients with various LSDs such as Niemann-Pick's, Tay-Sachs's, and Sandhoff's diseases. (alzforum.org)
Prior studies demonstrated that encapsulation in poly(lactic-co-glycolic acid) (PLGA) nanoparticles (NPs) enhanced the delivery of enzymes used for replacement therapy (ERT) of lysosomal storage disorders (LSDs). (ibecbarcelona.eu)
The most studied example is that of lysosomal storage disorders (LSDs), a group of 60 + maladies due to genetic mutations affecting lysosomal components, mostly enzymes. (ibecbarcelona.eu)

Lysosomal storage diseases describe a heterogeneous group of dozens of rare inherited disorders characterized by the accumulation of undigested or partially digested macromolecules, which ultimately results in cellular dysfunction and clinical abnormalities. (medscape.com)
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. (umassmed.edu)
GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases) are lysosomal storage disorders caused by the accumulation of GM1 or GM2 gangliosides, respectively, in the central nervous system (CNS), resulting in progressive and severe neurological impairment and early death. (dutchnews.nl)
ASM deficiency causes intra-lysosomal accumulation of sphingomyelin (and cholesterol and other cell membrane lipids) in various tissues. (medscape.com)
Parkinson's disease (PD) is a progressive neurodegenerative disorder featured by dopaminergic neuronal loss in the substantia nigra pars compacta (SNc) and accumulation of intracellular α-synuclein (α-syn)-containing Lewy bodies 1 . (nature.com)
Lysosomal storage disorders are inherited metabolic diseases that feature an abnormal accumulation of various toxic materials in cells because of enzyme deficiencies. (fabrydiseasenews.com)
While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials. (mpssociety.org)
Niemann Pick type C is an inborn error of metabolism (IEM), classified as a lysosomal storage disease (LSD) caused by a dysfunction in NPC transport protein, that leads to intracellular accumulation of non-esterified cholesterol and other lipids. (bvsalud.org)
HSP70 penetrated effectively into murine tissues including the CNS and inhibited glycosphingolipid accumulation in murine models of Fabry disease (Gla(-/-)), Sandhoff disease (Hexb(-/-)), and Niemann-Pick disease type C (Npc1(-/-)) and attenuated a wide spectrum of disease-associated neurological symptoms in Hexb(-/-) and Npc1(-/-) mice. (ox.ac.uk)
Niemann-Pick disease is a group of autosomal recessive disorders caused by an accumulation of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and, in some instances, brain. (nih.gov)
This is why the treatment for the treatment of accumulation diseases in cats is limited to stabilizing the condition of the animal, to avoiding dehydration and the hypoglycemia of glycogenosis. (petlifey.com)
3 A deficiency in the enzymes responsible for metabolizing gangliosides causes toxic levels of ganglioside accumulation which is indicative of several lysosomal storage diseases, including GM 1 gangliosidosis, GM 2 gangliosidosis, Tay-Sachs disease, and Sandhoff disease. (matreya.com)
The mucopolysaccharidosis (MPS) disorders are a group of lysosomal storage diseases caused by lysosomal enzyme deficits that lead to glycosaminoglycan accumulation, affecting various tissues throughout the body based on the specific enzyme deficiency. (nih.gov)
As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders. (pawprintgenetics.com)
As a result, there is an accumulation of these compounds in cells, which affects the normal function of the brain and nervous system. (pawprintgenetics.com)
Gaucher disease (GD) is characterized by a deficiency of the lysosomal enzyme glucocerebrosidase, resulting in the accumulation of sphingolipids throughout the body but most manifesting prominently in the bones. (scientiacme.org)
Mutations in the CTNS gene, encoding a lysosomal cystine transporter, lead to cystine accumulation and multi-organ failure such as end stage renal failure, blindness, myopathy, diabetes and central nervous system defects. (ucsd.edu)
Inherited defects or deficiencies of lysosomal enzymes (or other lysosomal components) can result in accumulation of undegraded metabolites. (msdmanuals.com)

More recently, the concept of lysosomal storage disease has been expanded to include deficiencies or defects in proteins necessary for the normal post-translational modification of lysosomal enzymes (which themselves are often glycoproteins), activator proteins, or proteins important for proper intracellular trafficking between the lysosome and other intracellular compartments. (medscape.com)
Most of these diseases are caused by the inheritance of two defective alleles of the gene encoding one of the hydrolytic enzymes. (biology-pages.info)
Gangliosidosis, also known as lysosomal storage disease , is a genetic condition that occurs when Korats don't have the enzymes to properly run their nervous system. (cyberpet.com)
Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases (LSD) caused by the body's inability to produce specific enzymes. (mpssociety.org)
These disorders include numerous dozen rare, inherited genetic diseases marked by the deficiency of specific enzymes which the body requires in order to break down and get rid of metabolic byproducts of energy production. (healthjockey.com)
The loss of acidity would shut down or dampen lysosomal enzymes, causing autophagy to grind to a halt. (alzforum.org)
Lysosomal enzymes break down macromolecules, either those from the cell itself (eg, when cellular structural components are being recycled) or those acquired outside the cell. (msdmanuals.com)

This has led to active clinical trials evaluating the safety and efficacy of intrathecal enzyme delivery in several lysosomal storage diseases (see www.ClinicalTrials.gov ). (medscape.com)

Age of onset and clinical manifestations may vary widely among patients with a given lysosomal storage disease, and significant phenotypic heterogeneity between family members carrying identical mutations has been reported. (medscape.com)
Data from the Human Genome Project surely will be useful in identifying mutations in the thousands of genes that must underlie inherited diseases of the central and peripheral nervous system. (medscape.com)
Genetic data also will be useful in identifying mutations and polymorphisms that predispose to some of the acquired diseases of the nervous system, some of which are discussed in this article. (medscape.com)
Until the genes and their mutations that underlie neurological disease are characterized, inherited disorders have to be defined the way clinicians have been classifying disease over the last 2 centuries. (medscape.com)
These diseases are the result of a defect in transport of sialic acid across lysosomal membranes and are associated with mutations in the gene encoding the sialic acid transporter sialin. (stanford.edu)
Fabry disease is a lysosomal storage disorder caused by mutations in the GLA gene, which provides instructions to produce the alpha-galactosidase A (Gal A) enzyme. (fabrydiseasenews.com)
Krabbe disease is caused by mutations in the GALC gene (mapped to chromosome 14q) which encodes galactocerebrosidase, an enzyme that degrades galactosylceramide, a normal constituent of myelin. (radiopaedia.org)
Mutations affecting the eukaryotic initiation factor 2B (eIF2B) cause one of the most common leukodystrophies, the autosomal recessive childhood ataxia with central nervous system hypomyelination (CACH), or vanishing white matter disease (VWM). (medlink.com)

His research efforts and novel technology have contributed to successful clinical programs of in vivo gene therapy for rare monogenic diseases developed by other companies, including Glybera® for familial lipoprotein lipase deficiency (AAV1), Luxturna® for RPE65-mediated retinal dystrophy (AAV2), and Zolgensma® for spinal muscular atrophy (AAV9). (upenn.edu)
Olipudase alfa is indicated for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adults and children. (medscape.com)
ARSA deficiency results in metachromatic leukodystrophy (MLD), a lysosomal storage disease in the central and peripheral nervous systems with severe and progressive neurological symptoms (2). (bio-techne.com)
Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. (nih.gov)
Niemann-Pick disease type C is not caused by a deficiency of sphlingomyelinase but by a lack of the NPC1 or NPC2 proteins. (nih.gov)
Mucolipidosis type IV (ML IV) also known as ganglioside sialidase deficiency and sialolipidosis, is an inherited lysosomal storage disease, belonging to the group of oligosaccharidosis that affects many organs and tissues, including the nervous system. (mpssociety.org.uk)
Molecules like ISRIB (integrated stress response inhibitor) correct the eIF2B deficiency in most mutants and are likely to be tried as therapy for central nervous system hypomyelination/vanishing white matter disease. (medlink.com)
Gaucher's disease, also known as glucocerebrosidase deficiency, is an autosomal recessive disease that affects about 1 in 20,000 live births. (medscape.com)
Mucopolysaccharidosis type II (MPS-II, Hunter syndrome, OMIM:30990) is a lysosomal storage disorder (LSD) that results in iduronate 2-sulphatase (I2S) enzyme deficiency. (cdc.gov)

A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. (umassmed.edu)
Krabbe disease , also known as globoid cell leukodystrophy , is an autosomal recessive lysosomal storage disorder resulting in damage to cells involved in myelin turnover. (radiopaedia.org)
Niemann-P ick disease (NPD) is actually a collection of a number of distinct autosomal recessive lysosomal storage diseases . (radiopaedia.org)
MPS I is an autosomal recessive disease this means that both parents must carry the same affected gene and each pass this same affected gene to their child. (mpssociety.org.uk)
Neuronal ceroid lipofuscinosis 5 is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. (pawprintgenetics.com)
Cystinosis is an autosomal metabolic disease belonging to the family of lysosomal storage disorders. (ucsd.edu)
FRDA is an autosomal recessive mitochondrial disease characterized by neurodegeneration, cardiomyopathy and muscle weakness and patients will be in wheelchair within 10-15 years of onset. (ucsd.edu)

In general, transplantation yields the best results when performed early in the course of the disease (ie, in an asymptomatic affected sibling of a child with a lysosomal storage disorder), in centers with experience in performing transplantations to treat inherited metabolic disorders, and in patients healthy enough to tolerate the conditioning and transplantation regimen. (medscape.com)
Gene therapy is experimental but in the future may help correct both somatic and neurologic abnormalities in a lysosomal storage disorder. (medscape.com)
Niemann-Pick, type C (NPC) is a fatal, neurovisceral lysosomal storage disorder with progressive neurodegeneration and no FDA-approved therapy. (bvsalud.org)
Type 2 glycogenosis is a lysosomal storage disorder, but most glycogenoses are not. (msdmanuals.com)

Lysosomal storage diseases are generally classified by the accumulated substrate and include the sphingolipidoses, oligosaccharidoses, mucolipidoses, mucopolysaccharidoses (MPSs), lipoprotein storage disorders, lysosomal transport defects, neuronal ceroid lipofuscinoses and others. (medscape.com)
Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases (such as Krabbe disease), including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses as well as peroxisome disorders such as X-linked adrenoleukodystrophy. (medscape.com)
The lab is investigating recessive, childhood-onset neurodegenerative diseases, such as the lysosomal storage diseases mucopolysaccharidoses and Battens disease. (chop.edu)
Accumulated data indicate that hematopoietic stem cell transplantation may be effective under optimal conditions in preventing the progression of central nervous system symptoms in neuronopathic forms of lysosomal storage diseases, including some of the mucopolysaccharidoses, oligosaccharidoses, sphingolipidoses, and lipidoses. (medscape.com)
The syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). (levislifelovelaughter.org)

Dr. Davidson works to understand the molecular basis of childhood onset neurodegenerative diseases and the development of gene and small molecule therapies for treatment. (chop.edu)
She also focuses on how noncoding RNAs participate in neural development and neurodegenerative disease processes, and how they can be harnessed for therapies. (chop.edu)
such work may prove instrumental in the development of new AAV-based therapies for genetic diseases which affect the central nervous system. (upenn.edu)
Dr. Wilson aims to expand gene therapy to also treat acquired diseases and other conditions, such as deploying AAV-based therapies to treat influenza (8) and central nervous system metastases located beyond the blood-brain barrier (9). (upenn.edu)
Chiesi Global Rare Diseases and Aliada Therapeutics are teaming up to advance a blood-brain barrier (BBB) crossing platform technology to deliver therapies for lysosomal storage disorders, including Fabry disease . (fabrydiseasenews.com)
Results from animal studies show the promise of these therapies to treat Krabbe, Fabry, and Gaucher disease. (trincoll.edu)
Abeona Therapeutics Inc. is a clinical-stage biopharmaceutical company developing gene and cell therapies for serious diseases. (abeonatherapeutics.com)
New therapies that circumvent this barrier and target brain disease in MPS are currently under development. (nih.gov)

The clinical trial is being conducted in Brazil and the US and will evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics across two doses of its lead asset, AZ-3102, in patients with GM2 gangliosidosis and Niemann-Pick disease type C (NP-C). (dutchnews.nl)
In 2022, the compound received Fast Track Designation for GM1 and GM2 gangliosidoses as well as NP-C and Orphan Drug Designations (ODD) for GM2 gangliosidosis (Sandhoff and Tay-Sachs Diseases) and NP-C from the FDA. (dutchnews.nl)

This can result in a variety of symptoms, many of which are severe and can affect the skeleton, brain, skin, heart, and the central nervous system. (wikipedia.org)
For this reason, many symptoms of lysosomal storage diseases remain untreated by ERT, especially neurological symptoms. (wikipedia.org)
The major symptoms of Bloom's syndrome are short stature, low birth weight, immune system deficiencies, poor appetitive and esophageal reflux. (forward.com)
While the symptoms of the diseases may vary from one syndrome to another, there are similarities. (mpssociety.org)
this build-up causes the symptoms of Fabry disease. (mountsinai.org)
Late-Onset Fabry disease manifests in adulthood and usually lacks the classic symptoms such as acroparasthesias and angiokeratomas, and mainly affects the kidney and the heart. (mountsinai.org)
The symptoms in females with Classic and Late-Onset Fabry disease (also known as "heterozygotes")vary. (mountsinai.org)
Females may have mild symptoms of the disease or the disease may present more severe as in males. (mountsinai.org)
The goal of treatment is to slow disease progression and improve Fabry symptoms. (mountsinai.org)
Substrate buildup can result in a wide range of symptoms affecting multiple peripheral organ systems and the central nervous system. (trincoll.edu)
Children with this disease have symptoms that get worse over time. (medlineplus.gov)
It is characterized by slowly progressive yet milder neurologic symptoms compared to type 2 Gaucher disease. (nih.gov)
There are established treatments for some MPS disorders, but these mostly alleviate somatic and non-neurological symptoms and do not cure the disease. (nih.gov)
Babies may show little sign of the disease but as more and more cells build-up of partially broken down mucopolysaccharides, symptoms start to appear. (mpssociety.org.uk)

The lab's research on childhood onset neurodegenerative diseases is focused on experiments to better understand the biochemistry and cell biology of proteins deficient in these disorders, and to develop small molecule- or gene therapy-based strategies for therapy. (chop.edu)
Translational research efforts are ongoing in his laboratory across a portfolio of lysosomal storage diseases, neurodegenerative diseases, infantile epilepsies, and liver metabolic diseases. (upenn.edu)
Neurodegenerative diseases and other brain conditions affect a staggering number of Americans. (brinj.org)
His research on Huntington's disease, spinocerebellar ataxias and other neurodegenerative diseases has been funded by the NIH and multiple foundations. (lacertatx.com)

Prosaposin (PSAP) modulates glycosphingolipid metabolism and variants have been linked to Parkinson's disease (PD). (nature.com)
Sanfilippo Syndrome is an inherited disease of metabolism that makes the body unable to properly break down long chains of sugar molecules called glycosaminoglycans (GAGs) or mucopolysaccharides. (levislifelovelaughter.org)
Bioactive sphingolipids in health and disease: lipidomic analysis, metabolism and roles in membrane signaling and autophagy. (sphingolipidclub.com)

Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), Pompe disease, and recently Batten disease (neuronal ceroid lipofuscinoses, CLN2). (medscape.com)
Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), and Pompe disease. (medscape.com)

ERT is available for some lysosomal storage diseases: Gaucher disease, Fabry disease, MPS I, MPS II (Hunter syndrome), MPS VI and Pompe disease. (wikipedia.org)
ERT was not used in clinical practice until 1991, after the FDA gave orphan drug approval for the treatment of Gaucher disease with Alglucerase. (wikipedia.org)
Gaucher Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
He has a particular interest in Fabry disease and Gaucher disease. (stanford.edu)
Type 2 (acute infantile neuropathic Gaucher disease) typically begins within three months of birth. (nih.gov)
and any other healthcare professionals with an interest in or who may clinically encounter patients with Gaucher disease. (scientiacme.org)

Substrate reduction therapy is another method for treating lysosomal storage diseases. (wikipedia.org)
None had a history of heart disease, previous substrate reduction therapy, or splenectomy. (medscape.com)

The majority of individuals with Krabbe disease present in early childhood although adult presentations as late as the 5thdecade are encountered 9 . (radiopaedia.org)
MR imaging and proton MR spectroscopy in adult Krabbe disease. (radiopaedia.org)
Kurtzberg was of the opinion that the test appears to be open to pregnant women who are at risk of having a baby with Krabbe disease, metachromatic leukodystrophy (MLD), Pelizaeus-Maerzbacher Disease (PMD), Tay-Sachs disease, or Sandoff disease. (healthjockey.com)

Thus far, ERT has been largely unsuccessful in improving central nervous system manifestations of the lysosomal storage diseases, putatively due to difficulty in penetrating the blood-brain barrier. (medscape.com)
The existing treatment options are limited and have no or only modest efficacy against neurological manifestations of disease. (ox.ac.uk)
Treatment of these neurological manifestations remains challenging due to the blood-brain barrier (BBB) that limits delivery of therapeutic agents to the central nervous system (CNS). (nih.gov)
Common manifestations include coarse facial features, neurodevelopmental delays and regression, joint contractures, organomegaly, stiff hair, progressive respiratory insufficiency (caused by airway obstruction and sleep apnea), cardiac valvular disease, skeletal changes, and cervical vertebral subluxation. (msdmanuals.com)
If left untreated, it can enlarge the liver and spleen and cause anemia, thrombocytopenia, neurologic damage, and bone disease, among other manifestations. (medscape.com)

We are using molecular, genetic and biochemical approaches to better define the normal function of sialin and to determine how loss of sialin function leads to neurodevelopmental defects and neurodegeneration associated with the lysosomal free sialic acid storage disorders. (stanford.edu)

This leads to aberrant intracellular storage of macromolecules, altering normal cell function and causing multiorgan syndromes, often fatal within the first years of life. (ibecbarcelona.eu)

Organomegaly, connective-tissue and ocular pathology, and central nervous system dysfunction may result. (medscape.com)
A second interest of our lab is to define mechanism underlying the pathology of lysosomal storage disorders. (stanford.edu)
GD is subcategorized based on clinical features: type 1 GD is the non-neuronopathic form and affects mainly the inner organs, while types 2 and 3 are the acute and sub-acute neuropathic forms, whose pathology manifests predominantly within central nervous system. (scientiacme.org)

It thus affects both the peripheral nervous system and the central nervous system (manifesting as a leukodystrophy ). (radiopaedia.org)
Over time, excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system (the nerves from the spinal cord to the rest of the body), liver, spleen, and bone marrow. (nih.gov)

Research in the Davidson Laboratory is focused on inherited genetic diseases that cause central nervous system dysfunction. (chop.edu)
The research team is also researching dominant genetic diseases, specifically the CAG repeat disorders, Huntington's disease and spinal cerebellar ataxia. (chop.edu)
The Forward presents this section to provide information on some of the more serious Jewish genetic diseases. (forward.com)
After a physician diagnoses the occurrence of one of the genetic diseases and the parents approve to treatment, donor cells are noted to be injected directly into the baby's abdomen at approximately 12 to 14 weeks into the pregnancy. (healthjockey.com)
We're looking at five different products that have been approved by the FDA, which is pretty impressive in the grand scheme of genetic diseases. (medscape.com)

AZ-3102 is an orally available azasugar with a unique dual mode of action, developed as a potential treatment for rare lysosomal storage disorders with neurological involvement, including GM1 and GM2 gangliosidoses and Niemann-Pick disease type C (NP-C). (dutchnews.nl)
Niemann-pick disease type a presenting as unilateral tremors. (radiopaedia.org)

Classically, lysosomal storage diseases encompassed only enzyme deficiencies of the lysosomal hydrolases. (medscape.com)
Because there are numerous specific deficiencies, storage diseases are usually grouped biochemically by the accumulated metabolite. (msdmanuals.com)

Treatment is available with the drug cysteamine to reduce intracellular cystine content, but it only delays the progression of the disease. (ucsd.edu)

The disease mainly affects the heart, nervous system, and kidneys. (fabrydiseasenews.com)
The disease affects the body's sulfonylurea receptors in the pancreas, which control the secretion of insulin to regulate the levels of glucose in the bloodstream. (forward.com)
Fabry disease affects males differently than it does females due to the way it is passed through families (the inheritance), which is called X-linked inheritance. (mountsinai.org)
It primarily affects the central nervous system and typically manifests during the first year of life with vision impairment that can progress to blindness, progressive motor and cognitive decline, seizures and ultimately early death. (abeonatherapeutics.com)
Late-onset Tay-Sachs disease, which affects adults, is very rare. (medlineplus.gov)
The disease affects males and females equally. (nih.gov)
Polycystic ovary syndrome is an illness that mostly affects young women's reproductive systems and overall health, affecting at least one in every ten women of reproductive age. (msjc.edu)

CLN1 disease, also known as Infantile Neuronal Ceroid Lipofuscinosis or infantile Batten disease, is a rapidly-progressing rare lysosomal storage disease with no approved treatment. (abeonatherapeutics.com)

This is especially apparent in neuronal cells of the central nervous system where they have vital roles as neurotransmitters and cellular regulators. (matreya.com)
Neuronal ceroid lipofuscinosis 5 (NCL5) is a lysosomal storage disease affecting Border Collies. (pawprintgenetics.com)
Neuronal ceroid lipofuscinosis 10 (NCL10) is a lysosomal storage disease affecting dogs. (pawprintgenetics.com)

In recent work, the lab demonstrated that the application of recombinant viral vectors to various models of storage disease reversed CNS deficits and improved life span. (chop.edu)

As a research scientist for 19 years, Andrea participated in academic projects in multiple research fields, from stroke, gene regulation, cancer, and rare diseases. (fabrydiseasenews.com)
Lysosomal storage diseases in cats, a series of rare diseases affecting felines. (petlifey.com)
A single rare disease may affect up to about 30,000 people however the vast majority of rare diseases affect far fewer than this. (mpssociety.org.uk)

As a member of the sulfatase family, arylsulfatase A is encoded by the ARSA gene and required for the lysosomal degradation of cerebroside-3-sulfate, a sphingolipid sulfate ester and a major constituent of the myelin sheet (1). (bio-techne.com)

While cross-correction, either upon secretion- recapture after bone marrow transplantation was shown in several lysosomal storage disorders caused by defective soluble hydrolases, our study is the first demonstration of cross-correction in the context of a lysosomal transmembrane protein and of TNTs as key cellular device in the transfer. (ucsd.edu)

As a result, we now know many genetic defects responsible for neurological disease, but frequently we do not know much about the resulting protein product and therefore the pathophysiologic basis for the disease. (medscape.com)

Delivery of gene therapy is accomplished by using adeno-associated viruses, specifically serotypes 9 and 10, and lentiviruses due to their ability to reach the central nervous system. (trincoll.edu)
NEW YORK and CLEVELAND, May 21, 2019 (GLOBE NEWSWIRE) -- Abeona Therapeutics Inc. (Nasdaq: ABEO), a fully-integrated leader in gene and cell therapy, today announced that the Company is cleared to begin a Phase 1/2 clinical trial evaluating its novel, one-time gene therapy ABO-202 for the treatment of CLN1 disease, following acceptance of its Investigational New Drug (IND) application by the U.S. Food and Drug Administration (FDA). (abeonatherapeutics.com)
ABO-202 is a one-time AAV gene therapy designed to enable cells to produce the normal PPT1 enzyme, which is critical for proper lysosomal function. (abeonatherapeutics.com)
ABO-202 is a promising AAV9 gene therapy that extended survival and improved neurological function in the animal model of CLN1 disease. (abeonatherapeutics.com)
ABO-202 is a novel, one-time gene therapy for CLN1 disease, a rapidly-progressing rare lysosomal storage disease with no approved therapy. (abeonatherapeutics.com)

That means both parents must pass on the defective gene in order for their child to get this disease. (levislifelovelaughter.org)
Tay-Sachs disease is caused by a defective gene on chromosome 15. (medlineplus.gov)
When both parents carry the defective Tay-Sachs gene, a child has a 25% chance of developing the disease. (medlineplus.gov)

Therapy primarily centers on hematopoietic stem cell transplantation which can delay disease progression 11 . (radiopaedia.org)
Disease progression is slow, but dogs are generally euthanized within 2 years of diagnosis when they can no longer stand or walk on their own. (pawprintgenetics.com)

The team attempts to discover noninvasive ways to bypass the BBB for sustained protein delivery across the BBB, which may have broader implications in treating other neurological diseases such as Alzheimer's disease and stroke. (cincinnatichildrens.org)
The finding suggests a novel route for the initiation of sporadic Alzheimer's disease, the authors suggest, and adds to the evidence that the autophagic pathway might make a promising therapeutic target if the findings can be reproduced in animal models. (alzforum.org)

Lack of this enzyme in patients with CLN1 disease results in neuroinflammation and neurodegeneration. (abeonatherapeutics.com)

In individuals with congenital hyperinsulinism, the sulfonylurea receptor system is impaired, so the beta cells of the pancreas keep secreting insulin, regardless of the blood sugar level. (forward.com)

In this treatment, the accumulated compounds are inhibited from forming in the body of a patient with a lysosomal storage disease. (wikipedia.org)
Azafaros is developing the compound as a potentially disease-modifying treatment in severe metabolic disorders including GM1 and GM2 gangliosidoses and NP-C. Enrollment of the first patient in the study is an important milestone for Azafaros in its mission to bring new treatment options to these patients and their families. (dutchnews.nl)
Dr. Reimer specializes in treatment of lysosomal storage disorders that affect the nervous system. (stanford.edu)
In better defining these processes we hope to achieve our long-term goal of identifying novel sites for treatment of diseases such as epilepsy and Parkinson Disease. (stanford.edu)
Dr. Wilson's laboratory focuses on the development of gene transfer vectors and their application in the treatment of inherited and acquired diseases. (upenn.edu)
this work has important implications in the treatment of cardiovascular disease (11). (upenn.edu)
At present, stem cell therapy is being evaluated as a possible treatment for Canavan disease. (forward.com)
When drug treatment fails, surgery must be done as soon as possible as the instability of the disease in infants is extremely dangerous and difficult to manage. (forward.com)
Finally, investigation of HP-b-CD treatment was performed where we observe that, although HP-b-CD reduces cholesterol storage, levels of NPC1 and NPC2 are not normalized to control levels. (bvsalud.org)
There is an FDA-approved treatment for Fabry disease, which replaces the missing alpha-Gal A enzyme. (mountsinai.org)
Importantly, the combined intravenous and intrathecal administration approach showed additional benefits compared to a single route of delivery, providing a new treatment paradigm for patients with devastating neurological diseases," said Steven J. Gray, Ph.D., Batten disease researcher and Associate Professor, Pediatrics, UT Southwestern Medical Center. (abeonatherapeutics.com)
There is no treatment for Tay-Sachs disease itself, only ways to make the person more comfortable. (medlineplus.gov)
This review summarizes existing and potential future treatment approaches that target brain disease in MPS. (nih.gov)
Yet, poor biodistribution to main targets such as the central nervous system, musculoskeletal tissue, and others, as well as generation of blocking antibodies and adverse effects hinder effective LSD treatment. (ibecbarcelona.eu)
SAN DIEGO - Eliglustat ( Cerdelga , Genzyme), a new oral treatment for type 1 Gaucher's disease, works almost as well as intravenous enzyme replacement therapy with imiglucerase, new research shows. (medscape.com)

ABO-202 is designed to deliver a functional copy of the PPT1 gene to cells of the central nervous system and peripheral organs using a combined intravenous and intrathecal delivery via the AAV9 vector. (abeonatherapeutics.com)

Lipid storage diseases (also known as lipidoses) are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body. (nih.gov)

Fabry disease is a genetic condition that results in reduced activity of an enzyme in the body called alpha-galactosidase A (alpha-Gal A). The purpose of alpha-Gal A is to break down a certain lipid, or fatty substance, called globotriaosylceramide (GL-3). (mountsinai.org)
Classic Fabry disease usually begins in childhood or teenage years. (mountsinai.org)
Adults with Fabry disease can develop heart disease, strokes, and kidney failure. (mountsinai.org)

Generally, children with the classic severe form of Hurler disease have progressive developmental delay, severe progressive physical problems and early advancement of the disease. (mpssociety.org.uk)

Tay-Sachs disease occurs when the body lacks hexosaminidase A. This is a protein that helps break down a group of chemicals found in nerve tissue called gangliosides. (medlineplus.gov)
The extent of efficacy of HSPCs to rescue cystinosis was surprising especially considering that cystinosin is a transmembrane lysosomal protein. (ucsd.edu)

The molecular, biochemical, and cellular basis of genetic disease. (medlineplus.gov)

For reasons that remain incompletely understood, these diseases often affect the nervous system out of proportion to other organs. (stanford.edu)
Type 1, the most common form, does not affect the nervous system. (medscape.com)

The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for degenerative vertebral diseases. (scielo.org)

Instead, they are stored in the tissues, generally of the cat's nervous system, in atypical quantities, causing swelling of the cells and impairing their functioning. (petlifey.com)

Lysosomal storage diseases are a group of diseases and a main application of ERT. (wikipedia.org)

Anatomy14

Organisms7

Diseases54

Chemicals and Drugs49

Analytical, Diagnostic and Therapeutic Techniques and Equipment8

Phenomena and Processes8

Technology, Industry, Agriculture1

Information Science3

Lysosomes9

LSDs11

Accumulation18

Enzymes7

Several lysosomal storage1

Mutations8

Deficiency9

Autosomal7

Disorder4

Mucopolysaccharidoses5

Therapies8

Gangliosidosis2

Symptoms14

Neurodegenerative diseases4

Metabolism3

Mucopolysaccharidosis2

Gaucher6

Substrate2

Krabbe3

Manifestations5

Free sialic1

Macromolecules1

Pathology3

Peripheral nervou2

Genetic Diseases5

Niemann Pick Di2

Deficiencies2

Intracellular1

Affects7

Infantile1

Neuronal3

Recombinant1

Rare diseases3

Degradation1

Hydrolases1

Defects1

Gene therapy5

Defective3

Progression2

Alzheimer's2

Neurodegeneration1

Congenital1

Treatment15

Intrathecal1

Lipidoses1

Fabry Disease3

Severe1

Protein2

Cellular1

Affect the nervous system2

Degenerative1

Tissues1

Group of diseases1