533 studies found for:    "succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"
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Rank Status Study
21 Not yet 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)
22 Recruiting Prospective Research Rare Kidney Stones (ProRKS)
Conditions: Hyperoxaluria;   Cystinuria;   Dent Disease;   Lowe Syndrome;   Adenine Phosphoribosyltransferase Deficiency/APRT
Intervention:
23 Recruiting Biomarker for Patients With Fabry Disease
Conditions: Fabry Disease;   Anderson-Fabry Disease;   Lysosomal Storage Diseases;   Alpha-Galactosidase A Deficiency
Intervention:
24 Completed Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease
Condition: Gaucher Disease, Type 1
Intervention: Drug: ISU302
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 Completed Bioequivalence Study of Two Nitisinone Formulations Compared to Orfadin
Condition: Hereditary Tyrosinemia, Type I
Interventions: Drug: Nitisinone;   Drug: Nitisinone 10 mg Tablet High Compritol;   Drug: Orfadin
29 Completed Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)
Condition: Hereditary Tyrosinemia, Type I
Interventions: Drug: Nitisinone;   Drug: Nitisinone Baked Tablet;   Drug: Orfadin
30 Completed Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
31 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
32 Not yet recruiting Pompe Disease QMUS and EIM
Condition: Pompe Disease
Interventions: Device: Muscle ultrasound;   Other: Electrical Impedance Myography
33 Recruiting PCORI Urea Cycle Disorder Study
Condition: Urea Cycle Disorders
Intervention: Other: No Intervention Given
34 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
35 Not yet recruiting Fabry Disease Screening in ESRD Patients in West of France
Condition: ESRD
Intervention: Other: Dried blood spot test
36 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
37 Recruiting Natural History and Outcome Measures in Alexander Disease
Condition: Alexander Disease
Intervention:
38 Enrolling by invitation An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica-
Conditions: Glycogen Storage Disease Type 2;   Dystrophia Myotonica
Intervention:
39 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
40 Enrolling by invitation Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product
Conditions: Cerebral Adrenoleukodystrophy (CALD);   Adrenoleukodystrophy (ALD);   X-Linked Adrenoleukodystrophy (X-ALD)
Intervention: Other: Safety and efficacy assessments

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Indicates status has not been verified in more than two years