517 studies found for:    "succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"
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Rank Status Study
21 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
22 Not yet recruiting Pompe Disease QMUS and EIM
Condition: Pompe Disease
Interventions: Device: Muscle ultrasound;   Other: Electrical Impedance Myography
23 Recruiting PCORI Urea Cycle Disorder Study
Condition: Urea Cycle Disorders
Intervention: Other: No Intervention Given
24 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
25 Not yet recruiting Fabry Disease Screening in ESRD Patients in West of France
Condition: ESRD
Intervention: Other: Dried blood spot test
26 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
27 Recruiting Natural History and Outcome Measures in Alexander Disease
Condition: Alexander Disease
Intervention:
28 Enrolling by invitation An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica-
Conditions: Glycogen Storage Disease Type 2;   Dystrophia Myotonica
Intervention:
29 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
30 Enrolling by invitation Long-term Follow-up of Subjects With Childhood Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product
Conditions: Childhood Cerebral Adrenoleukodystrophy;   Cerebral Adrenoleukodystrophy;   X-linked Adrenoleukodystrophy
Intervention: Other: Safety and efficacy assessments
31 Not yet recruiting The Effectiveness of Kuvan in Amish PKU Patients
Condition: Phenylketonuria
Interventions: Drug: saproterin dihydrochloride;   Other: Diet treatment
32 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
33 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
34 Recruiting Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease.
Conditions: Pompe Disease;   Muscle Weakness
Intervention: Other: Resistance Exercise Training
35 Completed
Has Results
Auto-antibodies Prevalence and CD1 Role in Gaucher Disease
Condition: Gaucher Disease
Intervention: Genetic: genetic analyses
36 Recruiting Lipidomics and Functional Analyses of Platelets in Fabry Disease
Condition: Fabry Disease
Intervention:
37 Recruiting Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
Conditions: Metabolism, Inborn Errors;   Lipid Metabolism, Inborn Errors;   Carbohydrate Metabolism, Inborn Errors;   Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency;   Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV);   Carnitine Palmitoyl Transferase 2 Deficiency;   VLCAD Deficiency;   Medium-chain Acyl-CoA Dehydrogenase Deficiency;   Multiple Acyl-CoA Dehydrogenase Deficiency;   Carnitine Transporter Deficiency;   Neutral Lipid Storage Disease;   Glycogen Storage Disease Type II;   Glycogen Storage Disease Type III;   Glycogen Storage Disease Type IV;   Glycogen Storage Disease Type V;   Muscle Phosphofructokinase Deficiency;   Phosphoglucomutase 1 Deficiency;   Phosphoglycerate Mutase Deficiency;   Phosphoglycerate Kinase Deficiency;   Phosphorylase Kinase Deficiency;   Beta Enolase Deficiency;   Lactate Dehydrogenase Deficiency;   Glycogen Synthase Deficiency
Intervention: Other: Sugar
38 Not yet recruiting Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:
Condition: Pyruvate Dehydrogenase Complex Deficiency
Interventions: Drug: Dichloroacetate (DCA);   Other: Placebo;   Genetic: Genotype
39 Not yet recruiting Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C
Condition: Niemann-Pick Disease, Type C
Interventions: Drug: arimoclomol;   Drug: Placebo
40 Recruiting SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease
Condition: Gaucher Disease
Intervention:

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Indicates status has not been verified in more than two years