Status | Study |
Completed |
Study Name: Bioequivalence Study of Two Nitisinone Formulations Compared to Orfadin Condition: Hereditary Tyrosinemia, Type I Date: 2016-04-20 Interventions: Drug: Nitisinone A single oral |
Enrolling by invitation |
Study Name: Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Condition: Cerebral Adrenoleukodystrophy (CALD) Adrenoleukodystrophy (ALD) Date: 2016-02-17 Interventions: Other: Safety and efficacy assessments Vector copy number (VCN) measurement, safety evaluations, disease |
Not yet recruiting |
Study Name: The Effectiveness of Kuvan in Amish PKU Patients Condition: Phenylketonuria Date: 2016-01-26 Interventions: Drug: saproterin dihydrochloride |
Not yet recruiting |
Study Name: Urease Inhibitor Drug Treatment for Urea Cycle Disorders Condition: Ornithine Transcarbamylase Deficiency Argininosuccinate Synthetase Deficiency (Citrullinemia Date: 2016-01-14 Interventions: Drug: Acetohydroxamic Acid Oth |
Not yet recruiting |
Study Name: Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Condition: Pyruvate Dehydrogenase Complex Deficiency Date: 2015-11-17 Interventions: Drug: Dichloroacetate (DCA) Pa |
Recruiting |
Study Name: A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Condition: X-linked Adrenoleukodystrophy Date: 2015-10-29 Interventions: Dietary Supplement: vitamin D3 Daily oral supplement provided by study investigators |
Not yet recruiting |
Study Name: Simplified Diet Approach in Phenylketonuria Condition: Phenylketonuria Date: 2015-09-17 Interventions: Behavioral: Dietary Protein Counting and Free Fruits and Vegetables Subjects will be educated on new sim |
Recruiting |
Study Name: Intervention and Outcomes in Duarte Galactosemia Condition: Duarte Galactosemia Date: 2015-08-06 |
Active, not recruiting |
Study Name: A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302 Condition: Phenylketonuria Date: 2015-06-03 Interventions: Other: Administration of CANTAB and Subject Global Assessment At designated visits, subject will perform |
Completed |
Study Name: Testing of Four Home Phenylalanine Monitoring Prototype Devices Condition: Phenylketonurias Date: 2015-05-13 |