515 studies found for:    "succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"
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Rank Status Study
21 Recruiting Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease
Condition: Pompe Disease
Interventions: Other: Thoracic MRI;   Other: Spirometry;   Other: Inspiratory Load Compensation;   Other: Maximal Inspiratory Pressure;   Other: Resting Breathing Pattern;   Other: Respiratory Muscle Endurance Test
22 Active, not recruiting To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
Condition: Urea Cycle Disorders
Intervention: Drug: HPN-100
23 Active, not recruiting Long-Term Follow-Up Study of Human Stem Cells Transplanted in Subjects With Connatal Pelizaeus-Merzbacher Disease (PMD)
Conditions: Pelizaeus-Merzbacher Disease;   PMD
Intervention: Biological: HuCNS-SC transplant in the lead-in phase
24 Completed Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients
Condition: Phenylketonuria
Interventions: Drug: Sapropterin dihydrochloride;   Drug: Placebo
25 Not yet recruiting Betaine METABOLISM OF PATIENTS With Homocystinuria
Condition: Homocystinuria
Intervention: Drug: Betaine
26 Completed Pilot Study on The Flanks of Asian Patients
Condition: Body Fat Disorder
Intervention: Device: The Zeltiq System
27 Recruiting Home Therapy With VPRIV in Gaucher's Disease
Condition: Gaucher's Disease
Intervention:
28 Withdrawn Neuroimaging and Neurocognitive Assessment and Response to Sapropterin Dihydrochloride Treatment in Phenylketonuria
Condition: PKU
Interventions: Dietary Supplement: diet;   Drug: sapropterin dihydrochloride
29 Recruiting Antioxidant Signature in Adult Patients With Phenylketonuria
Conditions: PKU;   Hyperphenylalaninemia
Interventions: Other: Blood sample;   Other: Urine sample
30 Recruiting Exploration of Immunity in Gaucher Disease
Condition: Gaucher Disease
Intervention:
31 Terminated The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity
Conditions: Argininosuccinic Aciduria;   Carbamoyl-Phosphate Synthase I Deficiency;   Citrullinemia;   Ornithine Carbamoyltransferase Deficiency;   Hyperargininemia;   N-Acetylglutamate Synthase Deficiency
Intervention:
32 Completed Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease
Conditions: Gaucher's Disease;   Osteopenia
Interventions: Drug: alendronate sodium;   Drug: calcium carbonate;   Drug: cholecalciferol
33 Active, not recruiting Kuvan® in Phenylketonuria Patients Less Than 4 Years Old
Condition: Phenylketonuria
Interventions: Drug: Kuvan®;   Other: Phenylalanine (Phe)-restricted diet
34 Terminated Moderate Intensity Exercise and Phenylketonuria
Conditions: Phenylketonuria;   PKU
Intervention: Other: Acute Moderate Intensity Exercise
35 Recruiting Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C
Conditions: Gaucher Disease;   Hepatitis C
Intervention:
36 Completed Paricalcitol in Fabry Disease
Conditions: Fabry Disease;   Proteinuria
Intervention: Drug: Paricalcitol
37 Recruiting Androgenetic Alopecia in Fabry Disease
Condition: Fabry Disease
Intervention:
38 Completed
Has Results
This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes.
Condition: Fabry Disease
Intervention: Biological: agalsidase alfa
39 Completed Antiproteinuric Agents and Fabry Disease
Conditions: Fabry Disease;   Proteinuria
Intervention:
40 Completed An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: Replagal

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Indicates status has not been verified in more than two years