MCID: LPD009
MIFTS: 52

Lipid Storage Disease

Categories: Immune diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Lipid Storage Disease

MalaCards integrated aliases for Lipid Storage Disease:

Name: Lipid Storage Disease 12 15
Lipoidosis 12 74
Inborn Lipid Storage Disorder 12
Lipid Storage Diseases 55
Lipoid Storage Diseas 12
Lipidoses 45

Classifications:



External Ids:

Disease Ontology 12 DOID:9455
ICD9CM 36 272.7 272.8
MeSH 45 D008064
SNOMED-CT 69 10741005 11455007
ICD10 34 E75.6

Summaries for Lipid Storage Disease

NINDS : 55 Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various tissues and cells in the body.  Lipids are important parts of the myelin sheath that coats and protects the nerves.  Over time, this excessive storage of fats can cause permanent damage to cells and tissues in the brain and peripheral nervous system, and in other parts of the body.  Symptoms may appear early in life or develop in the teen or even adult years.  Neurological complications of the lipid storage diseases may include: lack of muscle coordination, brain degeneration, seizures, loss of muscle tone, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, increased sensitivity to touch, pain in the arms and legs, and clouding of the cornea.

MalaCards based summary : Lipid Storage Disease, also known as lipoidosis, is related to neutral lipid storage disease with myopathy and chanarin-dorfman syndrome. An important gene associated with Lipid Storage Disease is PNPLA2 (Patatin Like Phospholipase Domain Containing 2), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Bezafibrate and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and brain, and related phenotypes are no effect and homeostasis/metabolism

Disease Ontology : 12 A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.

Wikipedia : 77 A lipid storage disorder (or lipidosis) is any one of a group of inherited metabolic disorders in which... more...

Related Diseases for Lipid Storage Disease

Diseases related to Lipid Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 73, show less)
# Related Disease Score Top Affiliating Genes
1 neutral lipid storage disease with myopathy 35.0 CRACR2B PNPLA2
2 chanarin-dorfman syndrome 34.0 ABHD5 PNPLA2
3 metachromatic leukodystrophy 32.3 ARSA GALC PSAP
4 sphingolipidosis 32.1 ARSA GALC GBA GLA NPC1 PSAP
5 gaucher disease, type i 32.0 CHIT1 GBA PSAP
6 niemann-pick disease 31.9 CHIT1 GBA NPC1 PSAP
7 leukodystrophy 30.8 ARSA GALC PSAP
8 gaucher's disease 29.9 ARSA CHIT1 GBA PSAP
9 inherited metabolic disorder 29.6 ARSA CLN3 GBA GLA NPC1 PNPLA3
10 retinal dystrophy in systemic or cerebroretinal lipidoses 12.1
11 cerebrotendinous xanthomatosis 11.6
12 xanthomatosis 11.4
13 lipoid proteinosis of urbach and wiethe 11.4
14 fatty liver disease 11.4
15 lysosomal acid lipase deficiency 11.4
16 farber lipogranulomatosis 11.2
17 niemann-pick disease, type c1 11.1
18 adrenoleukodystrophy 11.1
19 fabry disease 11.1
20 lysosomal and lipase deficiency 11.1
21 mucolipidosis 11.1
22 cholesterol ester storage disease 11.1
23 lipidosis with triglycerid storage disease 11.1
24 myoclonus 11.1
25 myopathy 10.5
26 muscle disorders 10.5
27 infantile krabbe disease 10.5 GALC PSAP
28 metachromatic leukodystrophy, late infantile form 10.4 ARSA PSAP
29 metachromatic leukodystrophy, juvenile form 10.4 ARSA PSAP
30 chitotriosidase deficiency 10.3 CHIT1 GBA
31 metachromatic leukodystrophy, adult form 10.3 ARSA PSAP
32 inclusion-cell disease 10.3 ARSA PSAP
33 gaucher disease, type ii 10.3 GBA PSAP
34 ichthyosis 10.3
35 ceroid lipofuscinosis, neuronal, 10 10.3 CLN3 CLN5
36 ceroid lipofuscinosis, neuronal, 7 10.3 CLN3 CLN5
37 adult neuronal ceroid lipofuscinosis 10.3 PPT1 PSAP TPP1
38 nonalcoholic steatohepatitis 10.3 GPT PNPLA3
39 ceroid lipofuscinosis, neuronal, 11 10.2 CLN3 CLN5 PPT1
40 mucopolysaccharidoses 10.2
41 krabbe disease 10.2 ARSA CHIT1 GALC PSAP
42 niemann-pick disease, type a 10.2 CHIT1 NPC1
43 pancreatitis 10.1
44 ceroid lipofuscinosis, neuronal, 1 10.1 CLN3 CLN5 PPT1 TPP1
45 ceroid lipofuscinosis, neuronal, 3 10.1 CLN3 CLN5 PPT1 TPP1
46 ceroid storage disease 10.1 CLN3 CLN5 PPT1 TPP1
47 ceroid lipofuscinosis, neuronal, 2 10.1 CLN3 CLN5 PPT1 TPP1
48 tay-sachs disease 10.0
49 demyelinating disease 10.0
50 aminoacidopathies 10.0
51 fatty liver disease, nonalcoholic 1 10.0 GPT SREBF1
52 neuronal ceroid-lipofuscinoses 10.0 CLN3 CLN5 PPT1 PSAP TPP1
53 neuronal ceroid lipofuscinosis 10.0 CLN3 CLN5 PPT1 PSAP TPP1
54 rheumatoid arthritis 10.0
55 arthritis 10.0
56 glycogen storage disease 10.0
57 osteonecrosis 10.0
58 mastoiditis 10.0
59 ochronosis 10.0
60 thyroid cancer 10.0
61 acute pancreatitis 10.0
62 histiocytosis 10.0
63 erdheim-chester disease 10.0
64 exophthalmos 10.0
65 lipogranulomatosis 10.0
66 sitosterolemia 9.8
67 combined saposin deficiency 9.8
68 dilated cardiomyopathy 9.8
69 keratopathy 9.8
70 cholestasis 9.8
71 reye syndrome 9.8
72 encephalopathy due to prosaposin deficiency 9.8
73 lysosomal storage disease 9.8 ARSA CLN3 GALC GBA GLA PPT1

Comorbidity relations with Lipid Storage Disease via Phenotypic Disease Network (PDN): (showing 2, show less)


Hypertension, Essential Ischemic Heart Disease

Graphical network of the top 20 diseases related to Lipid Storage Disease:



Diseases related to Lipid Storage Disease

Symptoms & Phenotypes for Lipid Storage Disease

GenomeRNAi Phenotypes related to Lipid Storage Disease according to GeneCards Suite gene sharing:

27 (showing 1, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ABHD5 ARSA CHIT1 CLN3 CLN5 CRACR2B

MGI Mouse Phenotypes related to Lipid Storage Disease:

47 (showing 12, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.33 ABHD5 ARSA CLN3 CYP27A1 GALC GBA
2 liver/biliary system MP:0005370 10.22 ABHD5 CLN3 CYP27A1 GALC GBA GLA
3 behavior/neurological MP:0005386 10.21 ARSA CLN3 GALC GBA GLA LIPA
4 hematopoietic system MP:0005397 10.18 ABHD5 ARSA CLN3 CYP27A1 GALC GBA
5 immune system MP:0005387 10.17 ABHD5 ARSA CHIT1 CLN3 GALC GBA
6 cardiovascular system MP:0005385 10.15 ABHD5 CYP27A1 GALC GBA GLA LIPA
7 mortality/aging MP:0010768 10.15 ABHD5 CLN3 GALC GBA GLA LIPA
8 nervous system MP:0003631 10.03 ARSA CLN3 CLN5 CYP27A1 GALC GBA
9 muscle MP:0005369 9.87 ABHD5 GALC GLA PNPLA2 PPT1 PSAP
10 renal/urinary system MP:0005367 9.7 CLN3 CYP27A1 GALC GLA LIPA PPT1
11 skeleton MP:0005390 9.5 ABHD5 CYP27A1 GALC GBA GPT PPT1
12 vision/eye MP:0005391 9.17 CLN3 CLN5 GALC GLA NPC1 PPT1

Drugs & Therapeutics for Lipid Storage Disease

Drugs for Lipid Storage Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 198, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2
Acetylcysteine Approved, Investigational Phase 4,Phase 1,Phase 2 616-91-1 12035
3
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
4
Miglustat Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 72599-27-0 51634
5
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
6
Ledipasvir Approved Phase 4 1256388-51-8 67505836
7
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
8
Calcium Approved, Nutraceutical Phase 4,Phase 2,Not Applicable 7440-70-2 271
9
Ergocalciferol Approved, Nutraceutical Phase 4,Not Applicable 50-14-6 5280793
10
1-Deoxynojirimycin Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 19130-96-2 1374
11 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Not Applicable
12 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable
13 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
14 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
15 Clofibric Acid Phase 4 882-09-7
16 Expectorants Phase 4,Phase 1,Phase 2
17 Free Radical Scavengers Phase 4,Phase 1,Phase 2
18 Antidotes Phase 4,Phase 1,Phase 2
19 Protective Agents Phase 4,Phase 1,Phase 2
20 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Respiratory System Agents Phase 4,Phase 1,Phase 2
22 Antioxidants Phase 4,Phase 1,Phase 2
23 N-monoacetylcystine Phase 4,Phase 1,Phase 2
24 Antiviral Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
25 Calciferol Phase 4,Phase 2,Not Applicable
26 Bone Density Conservation Agents Phase 4,Phase 2,Not Applicable
27 Vitamins Phase 4,Phase 3,Phase 2,Not Applicable
28 Hormones Phase 4,Phase 2,Not Applicable
29 Calcium, Dietary Phase 4,Phase 2,Not Applicable
30 Ergocalciferols Phase 4,Not Applicable
31 Nutrients Phase 4,Phase 3,Phase 2,Not Applicable
32 Vitamin D2 Phase 4,Not Applicable
33 Trace Elements Phase 4,Phase 3,Phase 2,Not Applicable
34 Micronutrients Phase 4,Phase 3,Phase 2,Not Applicable
35 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Hepatitis C Antibodies Phase 4
41 Ledipasvir, sofosbuvir drug combination Phase 4
42
Atorvastatin Approved Phase 3,Not Applicable 134523-00-5 60823
43
Fenofibrate Approved Phase 3,Not Applicable 49562-28-9 3339
44
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
45
Simvastatin Approved Phase 3 79902-63-9 54454
46
Ezetimibe Approved Phase 3,Phase 2 163222-33-1 150311
47
Coal tar Approved Phase 3,Phase 2 8007-45-2
48
Eliglustat Approved Phase 3,Phase 2,Phase 1,Not Applicable 491833-29-5 23652731
49
tannic acid Approved Phase 3,Phase 2 1401-55-4
50
Benzocaine Approved, Investigational Phase 3,Phase 2 1994-09-7, 94-09-7 2337
51
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
52
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
53
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
54
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
55
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
56
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
57
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
58
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Phase 2 59-30-3 6037
59
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
60
Torcetrapib Investigational Phase 3 262352-17-0 159325
61 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3,Not Applicable
62 Liver Extracts Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
63 Immunologic Factors Phase 2, Phase 3,Early Phase 1
64 Nicotinic Acids Phase 3
65 Vitamin B3 Phase 3
66 Vitamin B9 Phase 3,Phase 1,Phase 2
67 Vasodilator Agents Phase 3
68 Folate Phase 3,Phase 1,Phase 2
69 Vitamin B Complex Phase 3,Phase 1,Phase 2
70 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1,Not Applicable
71 Prednisolone acetate Phase 2, Phase 3
72 Antineoplastic Agents, Alkylating Phase 2, Phase 3
73 Methylprednisolone Acetate Phase 2, Phase 3
74 Alkylating Agents Phase 2, Phase 3
75 Immunosuppressive Agents Phase 2, Phase 3
76 Antilymphocyte Serum Phase 2, Phase 3
77 Antirheumatic Agents Phase 2, Phase 3
78
Ethanol Approved Phase 2,Not Applicable 64-17-5 702
79
Mycophenolic acid Approved Phase 2 24280-93-1 446541
80
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
81
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
82
leucovorin Approved Phase 1, Phase 2,Phase 2 58-05-9 143 6006
83
Pyrimethamine Approved, Investigational, Vet_approved Phase 1, Phase 2 58-14-0 4993
84
alemtuzumab Approved, Investigational Phase 2 216503-57-0
85
Mesna Approved, Investigational Phase 2 3375-50-6 598
86
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
87
Hydroxyurea Approved Phase 2 127-07-1 3657
88
Melphalan Approved Phase 2 148-82-3 460612 4053
89
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
90
Calcium Carbonate Approved, Investigational Phase 2 471-34-1
91
Alendronate Approved Phase 2 66376-36-1, 121268-17-5 2088
92
Lithium carbonate Approved Phase 1, Phase 2 554-13-2
93
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
94
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
95
rituximab Approved Phase 2 174722-31-7 10201696
96
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
97
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
98
Lutein Approved, Investigational, Nutraceutical Phase 1, Phase 2 127-40-2 6433159
99
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 5280453 134070
100
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
101
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
102
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
103
Betadex Experimental Phase 1, Phase 2,Phase 2 7585-39-9 320761
104
Ambroxol Investigational Phase 2,Phase 1 18683-91-5
105
Emodepside Investigational, Vet_approved Phase 1, Phase 2 155030-63-0
106 Tocotrienol Investigational Phase 2 6829-55-6
107 Gamma-sitosterol Phase 2
108 Phytosterol Phase 2
109 Antibiotics, Antitubercular Phase 2
110 Antitubercular Agents Phase 2
111 Anti-Bacterial Agents Phase 2
112 Histone Deacetylase Inhibitors Phase 1, Phase 2
113 Antiprotozoal Agents Phase 1, Phase 2
114 Antiparasitic Agents Phase 1, Phase 2
115 Antimalarials Phase 1, Phase 2
116 Folic Acid Antagonists Phase 1, Phase 2
117 Dermatologic Agents Phase 2
118 Cyclosporins Phase 2
119 Antineoplastic Agents, Immunological Phase 2
120 Antifungal Agents Phase 2
121 Calcineurin Inhibitors Phase 2
122 cysteine Phase 1, Phase 2
123 Antimetabolites, Antineoplastic Phase 2
124 Nucleic Acid Synthesis Inhibitors Phase 2
125 Gastrointestinal Agents Phase 2
126 Anti-Ulcer Agents Phase 2
127 Antacids Phase 2
128 Peripheral Nervous System Agents Phase 2,Not Applicable
129 Neurotransmitter Agents Phase 2,Not Applicable
130
Bilirubin Phase 1, Phase 2 635-65-4, 69853-43-6 21252250 5280352
131 Central Nervous System Depressants Phase 1, Phase 2,Phase 2
132 Antidepressive Agents Phase 1, Phase 2
133 Psychotropic Drugs Phase 1, Phase 2,Phase 2
134 Tranquilizing Agents Phase 1, Phase 2,Phase 2
135 Antimanic Agents Phase 1, Phase 2,Phase 2
136 Anti-Inflammatory Agents Phase 2
137 Tocopherols Phase 2
138 Thioctic Acid Phase 2
139 Tocotrienols Phase 2
140 Alpha-lipoic Acid Phase 2
141 leucine Phase 2
142 Fenofibric acid Approved Not Applicable 42017-89-0
143
Parathyroid hormone Approved, Investigational Not Applicable 9002-64-6
144
Dopamine Approved Not Applicable 62-31-7, 51-61-6 681
145
Methamphetamine Approved, Illicit Not Applicable 537-46-2 10836
146
Tropicamide Approved, Investigational 1508-75-4 5593
147
Warfarin Approved Not Applicable 81-81-2 54678486 6691
148
Enalapril Approved, Vet_approved 75847-73-3 40466924 5362032
149
Losartan Approved 114798-26-4 3961
150
Enalaprilat Approved 76420-72-9 6917719
151
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198
152
Levodopa Approved 59-92-7 6047
153
Acetylcholine Approved, Investigational ,Not Applicable 51-84-3 187
154
Nitroprusside Approved, Investigational 15078-28-1 11963622
155
Calcium polycarbophil Approved 126040-58-2
156 Barley Approved
157
Vitamin A Approved, Nutraceutical, Vet_approved Not Applicable 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
158
Imidacloprid Vet_approved 105827-78-9 86418
159 Immunoglobulins Early Phase 1
160 Vaccines Early Phase 1
161 Antibodies Early Phase 1
162 Annexin A5
163 Interferon-gamma
164 interferons
165 Autoantibodies
166 Dopamine Uptake Inhibitors Not Applicable
167 Central Nervous System Stimulants Not Applicable
168 Adrenergic Agents Not Applicable
169 Autonomic Agents Not Applicable
170 Neurotransmitter Uptake Inhibitors Not Applicable
171 Dopamine Agents Not Applicable
172 Sympathomimetics Not Applicable
173 Ophthalmic Solutions
174 Muscarinic Antagonists
175 Cholinergic Antagonists
176 Mydriatics
177 Cholinergic Agents
178 Cardiotonic Agents
179 Dopamine agonists
180 Anticoagulants Not Applicable
181
protease inhibitors
182 Angiotensin Receptor Antagonists
183 HIV Protease Inhibitors
184 Anti-Arrhythmia Agents
185 Antihypertensive Agents
186 Giapreza
187 Angiotensinogen
188 Angiotensin-Converting Enzyme Inhibitors
189 Angiotensin II Type 1 Receptor Blockers
190 Dihydroxyphenylalanine
191 Fluorodeoxyglucose F18
192 Retinol palmitate Not Applicable
193 retinol Not Applicable
194 Soy Bean
195 Psyllium
196 Grapefruit Seed Extract Not Applicable
197 Anesthetics Not Applicable
198 Anesthetics, Local Not Applicable

Interventional clinical trials:

(showing 386, show less)
# Name Status NCT ID Phase Drugs
1 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4 recombinant alpha-galactosidase A
2 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
3 A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. Completed NCT00365131 Phase 4 Cerezyme (imiglucerase for injection)
4 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
5 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4 Enzyme replacement
6 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
7 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4 Taliglucerase alfa
8 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4 Agalsidase beta
9 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4 Cystagon
10 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4 Replagal (Agalsidase Alfa);Replagal
11 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00081497 Phase 4
12 A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease Completed NCT00074984 Phase 4
13 Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease. Recruiting NCT03721627 Phase 4 Ledipasvir/Sofosbuvir
14 Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease Recruiting NCT03702361 Phase 4 VPRIV
15 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Recruiting NCT03021941 Phase 4 Elelyso 60 units/kg
16 Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease Recruiting NCT02574286 Phase 4 Velaglucerase alfa
17 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4 miglustat
18 Study of the Effects of Fabrazyme Treatment on Lactation and Infants Recruiting NCT00230607 Phase 4 agalsidase beta
19 Safety and Efficacy of Miglustat in Chinese NPC Patients Not yet recruiting NCT03910621 Phase 4 Miglustat
20 Efficacy Study of Daily Pro-Omega LDL for Low-Density Lipoprotein Cholesterol and Triglyceride Reduction Withdrawn NCT02069106 Phase 4
21 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
22 A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency. Withdrawn NCT00312767 Phase 4 Fabrazyme (agalsidase beta)
23 A Multicenter Study of SBC-102 (Sebelipase Alfa) in Patients With Lysosomal Acid Lipase Deficiency/ ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Unknown status NCT01757184 Phase 3 SBC-102 [sebelipase alfa] (1 mg/kg);Placebo
24 Lipid Efficacy and Safety in Participants With Mixed Hyperlipidemia (MK-0524B-024) Completed NCT00289900 Phase 3 MK-0524A;Atorvastatin;Simvastatin
25 Lipid Efficacy Study (0524B-022)(COMPLETED) Completed NCT00269217 Phase 3 niacin (+) laropiprant (+) simvastatin;Comparator: niacin (+) laropiprant;Comparator: simvastatin
26 Lipid Efficacy/Tolerability Study (0524A-020) Completed NCT00269204 Phase 3 niacin (+) laropiprant;ER-niacin
27 A Study to Evaluate an Investigational Drug in Patients With Mixed Hyperlipidemia (0653A-071)(COMPLETED) Completed NCT00093899 Phase 3 ezetimibe (+) simvastatin
28 Study of Ezetimibe and Fenofibrate in Patients With Mixed Hyperlipidemia (0653-036)(COMPLETED) Completed NCT00092573 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
29 Two Investigational Drugs in Patients With Mixed Hyperlipidemia (0653-036) Completed NCT00092560 Phase 3 MK0653, ezetimibe;Comparator: fenofibrate monotherapy
30 Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Completed NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
31 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
32 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
33 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
34 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
35 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3 Taliglucerase alfa
36 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3 Taliglucerase alfa
37 A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease Completed NCT01298141 Phase 3
38 Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease Completed NCT01218659 Phase 3 migalastat hydrochloride
39 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
40 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE) Completed NCT01074944 Phase 3 Eliglustat tartrate
41 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE) Completed NCT00943111 Phase 3 Eliglustat tartrate;Imiglucerase
42 Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease Completed NCT00925301 Phase 3 migalastat hydrochloride;Placebo
43 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
44 Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease Completed NCT00864851 Phase 3
45 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3 Taliglucerase alfa
46 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3 Taliglucerase alfa
47 A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms Completed NCT00701415 Phase 3
48 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3 Zavesca (Miglustat)
49 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
50 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed