| Status | Study |
| Not yet recruiting |
Study Name: Evaluation of PKU Explore Condition: Phenylketonuria Inborn Errors of Metabolism Date: 2017-05-24 Interventions: Dietary Supplement: PKU Explore PKU Explore is an unflavoured, powdered, phenylalanine-free, protein sub |
| Enrolling by invitation |
Study Name: Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia Condition: Phenylketonurias Hyperphenylalaninaemia, Type I Date: 2017-05-22 Interventions: Dietary Supplement: Synergy Sm |
| Recruiting |
Study Name: Review of Charts From Amish/Mennonite Variant PA Patients Condition: Propionic Acidemia Date: 2017-04-12 |
| Not yet recruiting |
Study Name: MRI Spectroscopy and Neuropsychological Functioning in Phenylketonuria Condition: Phenylketonuria Date: 2017-03-22 |
| Recruiting |
Study Name: Evaluation of PKU Start Condition: Phenylketonuria Inborn Errors of Metabolism Date: 2017-02-16 Interventions: Dietary Supplement: PKU Start PKU Start is a powdered, phe |
| Recruiting |
Study Name: Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD Condition: Argininosuccinate Lyase Deficiency Urea Cycle Disorder Ure Date: 2017-02-10 Interventions: Dietary Supplement: Neo-ASA Di |
| Recruiting |
Study Name: Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset OTC Deficiency Condition: Ornithine Transcarbamylase (OTC) Deficiency Date: 2016-12-09 Interventions: Genetic: scAAV8OTC non-replicating, recombinant scAAV8 encoding human ornithine transcarbamylase (OTC) |
| Recruiting |
Study Name: Natural History Study of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH) Condition: Homocystinuria Due to CBS Deficiency Date: 2016-12-02 |
| Recruiting |
Study Name: Effects of Oral Supplementation With Creatine on Systemic Microvascular Endothelial Function in Vegetarian Individuals Condition: Endothelial Dysfunction Hyperhomocysteinemia Date: 2016-11-07 Interventions: Dietary Supplement: monohydrate and micronized creatine |
| Recruiting |
Study Name: A Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC - An Expansion Condition: Aromatic Amino Acid Decarboxylase Deficiency Date: 2016-10-03 Interventions: Drug: AAV2-hAADC Dosage form: Aqueous solutionDose(s): 2.371x1011 vg/case Dosing schedule: Intracerebral |