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192 studies found for:    "argininosuccinic aciduria" OR "amino acid metabolism, inborn errors"
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Rank Status Study
21 Completed EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
Conditions: Methylmalonic Aciduria and Homocystinuria,Cblc Type;   Genetic Disease;   Retinopathy
Interventions: Drug: Epi-743;   Other: Placebo supplementation
22 Terminated
Has Results
Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
Conditions: Propionic Acidemia;   Methylmalonic Acidemia
Interventions: Drug: N-carbamylglutamate;   Other: Standard of Care
23 Recruiting Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Metabolic Disease;   Seizures
Interventions: Drug: SGS-742;   Drug: Placebo
24 Recruiting Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
Condition: Metabolic Disease
Intervention:
25 Completed 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
26 Active, not recruiting Suitability of Nitisinone in Alkaptonuria 2
Condition: Alkaptonuria
Intervention: Drug: Nitisinone
27 Completed Dose Response Study of Nitisinone in Alkaptonuria
Condition: Alkaptonuria
Intervention: Drug: Nitisinone
28 Active, not recruiting Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria
Condition: Alkaptonuria
Intervention: Drug: Nitisinone
29 Completed
Has Results
Long-Term Study of Nitisinone to Treat Alkaptonuria
Condition: Alkaptonuria
Intervention: Drug: Nitisinone (NTBC)
30 Recruiting Study of Alkaptonuria
Condition: Alkaptonuria
Intervention:
31 Recruiting Review of Charts From Amish/Mennonite Variant PA Patients
Condition: Propionic Acidemia
Intervention:
32 Recruiting Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
Conditions: Propionic Acidemia, Type I and/or Type II;   Methylmalonic Acidemia;   Carbamoyl-Phosphate Synthase I Deficiency Disease;   Ornithine Carbamoyltransferase Deficiency
Interventions: Drug: Carbaglu;   Drug: Placebo;   Drug: Standard Care Treatment
33 Available Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism
Conditions: Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency;   Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2);   Mitochondrial Trifunctional Protein Deficiency;   Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency;   Glycogen Storage Disorders;   Pyruvate Carboxylase Deficiency Disease;   ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of;   Barth Syndrome
Intervention: Drug: triheptanoin
34 Completed Biotin Status in Pregnancy
Condition: Biotin Deficiency
Intervention: Dietary Supplement: biotin
35 Completed
Has Results
Neurologic Injuries in Adults With Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Urea Cycle Disorder;   Ornithine Transcarbamylase Deficiency
Intervention:
36 Completed Anaplerotic Therapy in Propionic Acidemia
Condition: Propionic Acidemia
Interventions: Drug: ornithine alpha ketoglutarate;   Drug: glutamine;   Drug: disodium citrate
37 Recruiting Effects of Oral Supplementation With Creatine on Systemic Microvascular Endothelial Function in Vegetarian Individuals
Conditions: Endothelial Dysfunction;   Hyperhomocysteinemia
Interventions: Dietary Supplement: monohydrate and micronized creatine;   Other: placebo
38 Completed
Has Results
Effect of Folic Acid Supplementation on Plasma Homocysteine Level in Obese Children
Conditions: Hyperhomocysteinemia;   Obesity
Interventions: Drug: Folic Acid;   Drug: placebo
39 Completed The Effects of 8-week Choline, Betaine, and Folic Acid Supplementation on Plasma Homocysteine Concentration During Guanidinoacetic Acid Loading in Young Healthy Volunteers
Condition: Hyperhomocysteinemia
Interventions: Drug: TEST 1;   Drug: TEST 2;   Drug: TEST 3;   Drug: TEST 4
40 Completed Does B Vitamin Supplementation Decrease Homocysteine Concentrations in Newborns
Condition: Mild Hyperhomocysteinemia
Intervention: Drug: 5-formyltetrahydrofolate (10 mg/ml) (Pharmachemie bv)

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Study has passed its completion date and status has not been verified in more than two years.