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170 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
21 Recruiting Genzyme Osteopenia/Osteoporosis Study
Condition: Gaucher Disease
Intervention: Other: Gaucher disease DNA mutation analysis
22 Recruiting Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies neoGAA and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease
Condition: Glycogen Storage Disease Type II-Pompe's Disease
Interventions: Drug: GZ402666;   Drug: alglucosidase alfa (GZ419829)
23 Recruiting Prospective Research Rare Kidney Stones (ProRKS)
Conditions: Hyperoxaluria;   Cystinuria;   Dent Disease;   Lowe Syndrome;   Adenine Phosphoribosyltransferase Deficiency
Intervention:
24 Recruiting Biomarker for Patients With Fabry Disease
Conditions: Fabry Disease;   Anderson-Fabry Disease;   Lysosomal Storage Diseases;   Alpha-Galactosidase A Deficiency
Intervention:
25 Not yet recruiting Identification of Tongue Involvement in Late-Onset Pompe Disease
Conditions: Myopathy;   Neuropathy;   Glycogen Storage Disease Type II (Late-onset Pompe Disease)
Intervention: Other: Observational study
26 Recruiting The Assessment of Copper Parameters in Wilson Disease Subjects on Standard of Care Treatment
Condition: Wilson Disease
Intervention:
27 Recruiting Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT
Condition: Glycogen Storage Disease Type II
Intervention: Other: observation study
28 Recruiting Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness
Condition: Pompe Disease
Intervention: Other: Blood sample
29 Not yet recruiting Pompe Disease QMUS and EIM
Condition: Pompe Disease
Interventions: Device: Muscle ultrasound;   Other: Electrical Impedance Myography
30 Recruiting PCORI Urea Cycle Disorder Study
Condition: Urea Cycle Disorders
Intervention: Other: No Intervention Given
31 Not yet recruiting Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy
Conditions: Vasculopathy, Retinal, With Cerebral Leukodystrophy;   Cerebroretinal Vasculopathy, Hereditary
Intervention: Drug: aclarubicin
32 Recruiting Fabry Disease Screening in ESRD Patients in West of France
Condition: ESRD
Intervention: Other: Dried blood spot test
33 Not yet recruiting Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD)
Condition: Hurler Syndrome, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Krabbe, Cerebral Adrenoleukodystrophy
Intervention: Drug: Umbilical cord blood transplantation with HSC835
34 Recruiting Natural History and Outcome Measures in Alexander Disease
Condition: Alexander Disease
Intervention:
35 Recruiting sCD163 and sMR in Wilsons Disease - Associations With Disease Severity and Fibrosis
Condition: Wilsons Disease
Interventions: Procedure: Fibroscan;   Procedure: Ultrasound;   Drug: Galactose;   Procedure: Liver biopsy;   Procedure: Functional hepatic nitrogen clearance
36 Not yet recruiting The Effectiveness of Kuvan in Amish PKU Patients
Condition: Phenylketonuria
Interventions: Drug: saproterin dihydrochloride;   Other: Diet treatment
37 Recruiting First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221
Condition: Pompe Disease
Interventions: Drug: ATB200;   Drug: AT2221
38 Not yet recruiting Urease Inhibitor Drug Treatment for Urea Cycle Disorders
Conditions: Ornithine Transcarbamylase Deficiency;   Argininosuccinate Synthetase Deficiency (Citrullinemia);   Argininosuccinic Acid Lyase Deficiency (Argininosuccinic Aciduria);   Carbamyl-Phosphate Synthase I Deficiency
Interventions: Drug: Acetohydroxamic Acid;   Drug: Isotopic Intravenous [13C]-Urea
39 Recruiting Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.
Conditions: Pompe Disease;   Muscle Weakness
Intervention: Other: Resistance Exercise Training
40 Recruiting Lipidomics and Functional Analyses of Platelets in Fabry Disease
Condition: Fabry Disease
Intervention:

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