492 studies found for:    "Lysosomal Storage Diseases" OR "Schindler disease"
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Rank Status Study
21 Completed The Classification and Cause of Leukodystrophies of Unknown Cause
Condition: Lysosomal Storage Disease
Intervention:
22 Terminated Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I
Conditions: Mucopolysaccharidosis I;   Lysosomal Storage Diseases;   Spinal Cord Compression
Intervention: Drug: laronidase
23 Recruiting Biomarker for Maroteaux-Lamy Disease
Conditions: Maroteaux-lamy Disease;   Lysosomal Storage Diseases
Intervention:
24 Terminated ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
Conditions: Inherited Metabolic Diseases;   Lysosomal Storage Disorders;   Peroxisomal Storage Diseases;   Inborn Errors of Metabolism;   Mucopolysaccharidosis
Intervention: Biological: ALD-101
25 Recruiting Characterization of the Patient Population With Galactosialidosis
Condition: Galactosialidosis
Intervention:
26 Recruiting Physician Initiated Request for Migalastat in Individual Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: migalastat HCl
27 Recruiting Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: migalastat HCl 150 mg
28 Completed Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
Condition: Gaucher Disease
Intervention: Procedure: Blood sample
29 Recruiting Open-Label Phase 3 Long-Term Safety Study of Migalastat
Condition: Fabry Disease
Intervention: Drug: migalastat HCl 150mg
30 Recruiting Biomarker for Niemann Pick Type C Disease
Conditions: Niemann-Pick Disease;   Niemann-Pick Disease, Type C
Intervention:
31 Unknown  Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis
Condition: Gangliosidoses GM2
Intervention: Drug: miglustat
32 Recruiting Biomarker for GM1/GM2 - Gangliosidoses
Conditions: Gangliosidosis;   GM1-Gangliosidosis;   GM2-Gangliosidosis;   Hexosaminidase Activator Deficiency;   Tay-Sachs Disease, AB Variant;   Hexosaminidase A and B Deficiency;   Sandhoff Disease
Intervention:
33 Recruiting Biomarker for Glycogen Storage Diseases
Conditions: Fructose Metabolism, Inborn Errors;   Glycogen Storage Disease;   Glycogen Storage Disease Type I;   Glycogen Storage Disease Type II;   Glycogen Storage Disease Type III;   Glycogen Storage Disease Type IV;   Glycogen Storage Disease Type V;   Glycogen Storage Disease Type VI;   Glycogen Storage Disease Type VII;   Glycogen Storage Disease Type VIII
Intervention:
34 Recruiting Biomarker for Farber Disease
Conditions: Farber's Lipogranulomatosis;   Ceramidase Deficiency;   Farber Disease;   Acid Ceramidase Deficiency;   AC Deficiency
Intervention:
35 Recruiting The Natural History of Mucolipidosis Type IV
Condition: Mucolipidosis Type IV
Intervention:
36 Recruiting Nervous System Degeneration in Glycosphingolipid Storage Disorders
Conditions: Gangliosidoses;   Gaucher Disease
Intervention:
37 Recruiting Safety and Efficacy Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency
Condition: Lysosomal Acid Lipase Deficiency
Intervention: Drug: sebelipase alfa
38 Completed
Has Results
Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy
Conditions: Hunter Syndrome;   Mucopolysaccharidosis II;   MPS II
Intervention: Biological: Idursulfase
39 Completed
Has Results
Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase
Conditions: Hunter Syndrome;   Mucopolysaccharidosis II (MPS II)
Intervention: Biological: Idursulfase
40 Completed
Has Results
A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®
Condition: Hunter Syndrome
Interventions: Other: Control;   Drug: Idursulfase IT (1 mg);   Drug: Idursulfase IT (10 mg);   Drug: Idursulfase IT (30 mg)

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Indicates status has not been verified in more than two years