*  Lysinuric Protein Intolerance disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Inborn errors of metabolism External Ids:. OMIM 54 222700 Disease Ontology 12 DOID:0060439 ... Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance. ( 23430827 ) ... Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI). ( 27506743 ) ...
  http://www.malacards.org/card/lysinuric_protein_intolerance?search=glaucoma
*  Gene Therapy for Metachromatic Leukodystrophy - Full Text View - ClinicalTrials.gov
Metabolism, Inborn Errors. Genetic Diseases, Inborn. Metabolic Diseases. Hereditary Central Nervous System Demyelinating ... Gene Therapy for Metachromatic Leukodystrophy (TIGET-MLD). The safety and scientific validity of this study is the ... Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... MedlinePlus related topics: Genes and Gene Therapy Leukodystrophies Genetic and Rare Diseases Information Center resources: ...
  https://clinicaltrials.gov/ct2/show/NCT01560182?term=Metachromatic+Leukodystrophy&rank=4
*  Gene Therapy for Metachromatic Leukodystrophy - Full Text View - ClinicalTrials.gov
Metabolism, Inborn Errors. Genetic Diseases, Inborn. Metabolic Diseases. Hereditary Central Nervous System Demyelinating ... Gene Therapy for Metachromatic Leukodystrophy (TIGET-MLD). This study is ongoing, but not recruiting participants. ... Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... MedlinePlus related topics: Genes and Gene Therapy Leukodystrophies Genetic and Rare Diseases Information Center resources: ...
  https://clinicaltrials.gov/ct2/show/NCT01560182?term=Metachromatic+Leukodystrophy&rank=3
*  Enzyme Replacement Therapy in Fabry Disease - Full Text View - ClinicalTrials.gov
Genetic Diseases, Inborn. Metabolism, Inborn Errors. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. ... Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... This study wants to evaluate the long term efficacy of enzyme replacement therapy in patients with Fabry disease and renal ... Evaluation of the Long Term Efficacy of Enzyme Replacement Therapy in Fabry Disease. ...
  https://clinicaltrials.gov/show/NCT00149318
*  Home Therapy With Replagal in Fabry Disease - Full Text View - ClinicalTrials.gov
Genetic Diseases, Inborn. Metabolism, Inborn Errors. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. ... Home Therapy With Replagal in Fabry Disease. The safety and scientific validity of this study is the responsibility of the ... The patient has been selected before inclusion in this study for a home infusion therapy and has consented to (or their legal ... Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ...
  https://clinicaltrials.gov/ct2/show/NCT01355146
*  Search of: 'lipid metabolism, inborn errors' OR 'farber lipogranulomatosis' - List Results - ClinicalTrials.gov
Anti-oxLDL IgM Antibodies as a Novel Therapy for Metabolic Lipid Diseases. *Lipid Metabolism, Inborn Errors ... Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy. *Metabolism, Inborn Errors ... The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM). *Neutral Lipid Storage ... Interdisciplinary Metabolism Center, Lipid Out-Patient-Clinic, Lipid Apheresis, Charité, University of Berlin. Berlin, Germany ...
  https://clinicaltrials.gov/ct2/results?cond=%22lipid+metabolism%2C+inborn+errors%22+OR+%22farber+lipogranulomatosis%22&show_rss=Y&sel_rss=new14
*  Low-Density Lipoprotein (LDL) Apheresis Using H.E.L.P. Therapy - Full Text View - ClinicalTrials.gov
Lipid Metabolism Disorders. Metabolic Diseases. Lipid Metabolism, Inborn Errors. Metabolism, Inborn Errors. Genetic Diseases, ... Low-Density Lipoprotein (LDL) Apheresis Using H.E.L.P. Therapy (Secura). This study has been completed. ... Premenopausal women must be surgically sterilized or be on oral contraceptive therapy and have a negative pregnancy test at the ... Patients have familial hypercholesterolemia and have undergone at least 6 months optimal diet and drug therapy and fit group A ...
  https://clinicaltrials.gov/ct2/show/NCT00916643
*  The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) - Full Text View -...
Lipid Metabolism, Inborn Errors. Muscular Diseases. Lipidoses. Metabolism, Inborn Errors. Genetic Diseases, Inborn. Lipid ... The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) (NLSDM). The safety and ... lipid accumulation [ Time Frame: 28 weeks ]. Lipid accumulation will be measured both by 1H-MRS as CH/H2O ratio's in the ... The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM). ...
  https://clinicaltrials.gov/ct2/show/NCT01527318?cond=%22lamellar+ichthyosis%22+OR+%22Congenital+Ichthyosiform+Erythrodermas%22+OR+%22Congenital+Ichthyosiform+Erythroderma%22&rank=10
*  Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease - Full...
Genetic Diseases, Inborn. Metabolism, Inborn Errors. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. ... Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease. The ... Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... Study to compare the efficacy and safety of AT1001 and enzyme replacement therapy (ERT) in male and female patients with Fabry ...
  https://clinicaltrials.gov/show/NCT01218659
*  A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease - Full Text View -...
Genetic Diseases, Inborn. Metabolism, Inborn Errors. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. ... A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease. The safety and scientific ... A Multicenter Open-label Study of the Safety and Efficacy of α-galactosidase A (R-h α-GAL) Replacement Therapy in Patients With ... Enzyme replacement therapy history, except for agalsidase beta. *Participants who were unwilling to comply with the ...
  https://clinicaltrials.gov/show/NCT00140621
*  An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease - Full Text View -...
Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. Metabolic Diseases. Lipid ... The deficiency in breaking down the lipid eventually causes that lipid to accumulate and injure cells. Problems in the blood ... Although it is not known exactly how lipid accumulation brings about such problems, studies of another lipid storage disorder, ... An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease. This study has been ...
  https://clinicaltrials.gov/ct2/show/NCT00071877?term=Lipid+Storage+Diseases&rank=16
*  Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase - Full Text...
Metabolism, Inborn Errors. Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. ... Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase. The safety ... Shire Human Genetic Therapies, Inc.. Principal Investigator:. Anna Tylki-Szmanska, M.D.. Children's Memorial Health Institute, ... MedlinePlus related topics: Gaucher Disease Genes and Gene Therapy Drug Information available for: Imiglucerase Velaglucerase ...
  https://clinicaltrials.gov/ct2/show/NCT00478647?term=%22Children
*  Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy - Full Text View -...
Metabolism, Inborn Errors. Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. ... Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy (TG-MLD). This study is ongoing ... MedlinePlus related topics: Genes and Gene Therapy Leukodystrophies Genetic and Rare Diseases Information Center resources: ... Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ...
  https://clinicaltrials.gov/ct2/show/NCT01801709?term=Metachromatic+Leukodystrophy&rank=6
*  Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy - Full Text...
Metabolism, Inborn Errors. Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. ... Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy. This study ... conducted to test the safety of AT2101 in patients with type 1 Gaucher disease already receiving enzyme replacement therapy ( ...
  https://clinicaltrials.gov/ct2/show/NCT00433147
*  Enlightened Therapy of the Disorders of Cornification | Foundation for Ichthyosis (FIRST)
The causative defects have been surprisingly broad, and include not only inborn errors of lipid (fat) metabolism, but also ... Reprinted from Clinics in Dermatology, Volume 21, Mary L. Williams, MD, and Peter M. Elias, MD, 'Enlightened Therapy of the ... While this lipid (fat) imbalance leads to a minor abnormality in barrier function, the predominant clinical issue in RXLI is ... These water-repellant lipids waterproof the skin, preventing loss of excess body fluids into the dry, external atmosphere. They ...
  http://www.firstskinfoundation.org/content.cfm/Ichthyosis/Enlightened-Therapy-of-the-Disorders-of-Cornification-2004/page_id/599
*  Synageva BioPharma™ Highlights Data at the International Congress of Inborn Errors of Metabolism - AOL Finance
Highlights Data at the International Congress of Inborn Errors of Metabolism LEXINGTON, Mass.--(BUSINESS WIRE)-- Synageva ... Seven of nine patients received treatment with lipid modifying therapies including ezetimibe, statins, and other medications. ... Synageva BioPharma™ Highlights Data at the International Congress of Inborn Errors of Metabolism ... Synageva BioPharma™ Highlights Data at the International Congress of Inborn Errors of Metabolism. ...
  https://www.aol.com/article/finance/2013/09/04/synageva-biopharma-highlights-data-at-the-internat/20711142/
*  Efficacy and Safety of Human Lipoprotein Lipase (LPL)[S447X] Expressed by an Adeno-Associated Viral Vector in LPL-deficient...
Lipid Metabolism, Inborn Errors. Metabolism, Inborn Errors. Genetic Diseases, Inborn. Hyperlipoproteinemias. Hyperlipidemias. ... Gene Therapy. Genetic: Alipogene Tiparvovec (AMT-011), Human LPL [S447X] intra muscular, 1 x E12 gc per kg body weight, ... Lipid Metabolism Disorders. Metabolic Diseases. Cyclosporins. Cyclosporine. Mycophenolic Acid. Methylprednisolone Hemisuccinate ... Alipogene tiparvovec gene therapy ensures that a catabolically beneficial variant of the human LPL gene, LPL[S447X] is ...
  https://clinicaltrials.gov/ct2/show/NCT00891306
*  PEG-Glucocerebrosidase for the Treatment of Gaucher Disease - Full Text View - ClinicalTrials.gov
Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. Metabolic Diseases. Lipid ... Inborn Error of Metabolism. Enzyme Replacement Therapy. Glucocerebrosidase. Polyethylene Glycol. Gaucher Disease. Recombinant ... Enzyme replacement therapy is another therapy option and has been approved by the Food and Drug Administration (FDA) for use in ... Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ...
  https://clinicaltrials.gov/ct2/show/NCT00001410?term=Lipid+Storage+Diseases&rank=18
*  PERIKABIVEN (Amino acids,Electrolytes,Dextrose,Lipids) dosage, indication, interactions, side effects | EMPR
Lipids) drug information & product resources from MPR including dosage information, educational materials, & patient assistance ... Inborn error of amino acid metabolism. Cardiopulmonary instability (including pulmonary edema, cardiac insufficiency, MI, ... Cognitive Behavioral Therapy May Alter Suicidal Ideation in Anxiety Disorders * Factors Associated With Transfer to Specialized ... Severe hyperlipidemia or severe disorders of lipid metabolism characterized by hypertriglyceridemia (serum triglyceride >1000mg ...
  http://www.psychiatryadvisor.com/perikabiven/drug/34598/
*  NEW SECONDARY METABOLITES OF PHENYLBUTYRATE IN HUMANS AND RATS | Drug Metabolism & Disposition
This dose corresponds to 11 to 17% of the doses commonly used in the treatment of patients with inborn errors of urea synthesis ... These metabolites result from interference between the metabolism of phenylbutyrate and that of carbohydrates and lipids. The ... High-dose phenylbutyrate therapy results in toxicity, the mechanism of which is unexplained. The known metabolites of ... In the 1980s, Brusilow and collaborators started using PA for the treatment of patients with inborn errors of the urea cycle ( ...
  http://dmd.aspetjournals.org/content/32/1/10
*  Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Patients With Lysosomal Acid Lipase Deficiency ...
Lipid Metabolism, Inborn Errors. Metabolism, Inborn Errors. Genetic Diseases, Inborn. Lysosomal Storage Diseases. Infant, ... Enzyme Replacement Therapy (ERT). Lysosomal Storage Disease. Late Onset Lysosomal Acid Lipase (LAL) Deficiency. Acid ... Clinically significant abnormal values on laboratory screening tests, other than liver function or lipid panel tests ...
  https://clinicaltrials.gov/show/NCT01307098
*  A Multicenter Study of SBC-102 (Sebelipase Alfa) in Patients With Lysosomal Acid Lipase Deficiency/ ARISE (Acid Lipase...
Lipid Metabolism, Inborn Errors. Metabolism, Inborn Errors. Genetic Diseases, Inborn. Lysosomal Storage Diseases. Infant, ... Subjects receiving lipid-lowering therapies must be on a stable dose of the medication ... Current treatments mainly focus on control of the lipid abnormalities through diet and the use of lipid lowering medications. ... Enzyme Replacement Therapy (ERT). Lysosomal Storage Disease. Late Onset Lysosomal Acid Lipase (LAL) Deficiency. Acid ...
  https://clinicaltrials.gov/ct2/show/NCT01757184?term=synageva&rank=6
*  Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects...
Lipid Metabolism, Inborn Errors. Metabolism, Inborn Errors. Genetic Diseases, Inborn. Lysosomal Storage Diseases. Infant, ... Enzyme Replacement Therapy (ERT). Lysosomal Storage Disease. Late Onset Lysosomal Acid Lipase (LAL) Deficiency. Acid ... Lipid Changes From Baseline [ Time Frame: From baseline (study LAL-CL01) to week 10 or 12, week 24, week 52, week 104 ]. Change ... Clinically significant abnormal values on laboratory screening tests, other than liver function or lipid panel tests ...
  https://clinicaltrials.gov/ct2/show/NCT01488097?term=Lipid+Storage+Diseases&rank=15
*  Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease - Full Text...
Metabolism, Inborn Errors. Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. ... enzyme replacement therapy. Gaucher disease. plant cell culture. splenomegaly. hepatomegaly. anemia. thrombocytopenia. ... Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... This is an open-label expanded access trial of prGCD in patients with Gaucher disease who require enzyme replacement therapy ( ...
  https://clinicaltrials.gov/ct2/show/NCT00962260?cond=%22Splenomegaly%22&rank=11
*  Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease - Full Text View - ClinicalTrials.gov
Metabolism, Inborn Errors. Genetic Diseases, Inborn. Lipidoses. Lipid Metabolism, Inborn Errors. Lysosomal Storage Diseases. ... Enzyme Replacement Therapy. Gaucher disease. glucocerebrosidase. beta-glucocerebrosidase. Acid beta-glucocerebrosidase. ... Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System Diseases. Nervous System ... of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability. Genet Med. ...
  https://clinicaltrials.gov/ct2/show/NCT00954460?term=GBA&rank=9