172 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
21 Unknown  Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
Condition: Amino Acid Metabolism, Inborn Errors
Interventions: Behavioral: Protein and calorie controlled diet;   Genetic: Ornithine transcarbamylase vector
22 Recruiting A Study of the Effects of Fabrazyme (Agalsidase Beta) on Mother's Lactation and on the Growth, Development and Immunologic Response of Their Infants
Condition: Fabry Disease
Intervention: Biological: agalsidase beta
23 Unknown  Examining the Immune Response in Patients With Gaucher Disease and Hepatitis B or C
Conditions: Gaucher Disease;   Hepatitis B;   Hepatitis C
Intervention:
24 Recruiting Androgenetic Alopecia in Fabry Disease
Condition: Fabry Disease
Intervention:
25 Recruiting Moderate Intensity Exercise and Phenylketonuria
Conditions: Phenylketonuria;   PKU
Intervention: Other: Acute Moderate Intensity Exercise
26 Recruiting Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy
Condition: Metachromatic Leukodystrophy
Intervention: Genetic: intracerebral administration of AAVrh.10cuARSA
27 Recruiting Outer Thigh Study With Varied Treatment Parameters
Condition: Body Fat Disorder
Intervention: Device: The Zeltiq System
28 Recruiting Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
Conditions: Urea Cycle Disorders;   Organic Acidemias
Interventions: Other: Therapeutic Hypothermia;   Other: Standard of care therapy
29 Recruiting Kuvan®'s Effect on the Cognition of Children With Phenylketonuria
Condition: Phenylketonuria
Intervention: Drug: Kuvan®
30 Recruiting Alglucosidase Alfa Pompe Safety Sub-Registry
Condition: Pompe Disease
Intervention: Biological: Alglucosidase alfa
31 Unknown  Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
Conditions: Sickle Cell Disease;   Thalassemia;   Anemia;   Granuloma;   Wiskott-Aldrich Syndrome;   Chediak Higashi Syndrome;   Osteopetrosis;   Neutropenia;   Thrombocytopenia;   Hurler Disease;   Niemann-Pick Disease;   Fucosidosis
Intervention: Procedure: Hematopoietic stem cell transplantation
32 Unknown  The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease
Condition: Gaucher Disease
Interventions: Drug: Cerezyme®;   Drug: ISU302
33 Recruiting Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry Disease
Conditions: Fabry Disease;   Neuropathic Pain
Interventions: Drug: Gabapentin;   Drug: placebo
34 Recruiting Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
Conditions: Mucopolysaccharidosis Type I (MPS I);   Mucopolysaccharidosis Type II (MPS II);   Mucopolysaccharidosis Type III (MPS III);   Mucopolysaccharidosis Type VI (MPS VI);   Krabbe Disease
Intervention:
35 Recruiting Genetic Studies of Lysosomal Storage Disorders
Conditions: Gaucher's Disease;   Lysosomal Storage Disease
Intervention:
36 Recruiting Synergistic Enteral Regimen for Treatment of the Gangliosidoses
Conditions: GM1 Gangliosidoses;   GM2 Gangliosidoses;   Tay-Sachs Disease;   Sandhoff Disease
Interventions: Drug: miglustat;   Behavioral: Ketogenic Diet
37 Recruiting Pregnancy and Birth Outcome in Women With Pompe Disease
Condition: Pompe Disease
Intervention:
38 Not yet recruiting A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD)
Condition: Late-onset Pompe Disease
Intervention: Procedure: Respiratory muscle strength measurements by different techniques.
39 Recruiting Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy
Condition: Adrenoleukodystrophy
Interventions: Drug: glyceryl trierucate;   Drug: glyceryl trioleate
40 Recruiting Enzyme Replacement Therapy in Fabry Disease
Condition: Fabry Disease
Intervention: Other: Biochemical analyses.

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Indicates status has not been verified in more than two years