Status | Study |
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: Natural History Study of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH) Condition: Homocystinuria Due to CBS Deficiency Date: 2016-12-02 |
Active, not recruiting |
Study Name: MD1003-AMN MD1003 in Adrenomyeloneuropathy Condition: Adrenomyeloneuropathy Adrenoleukodystrophy AMN Date: 2016-11-09 Interventions: Drug: MD1003 100 mg capsule Ot |
Recruiting |
Study Name: Newborn Screening for Adrenoleukodystrophy Condition: Adrenoleukodystrophy Date: 2016-10-31 Interventions: Procedure: newborns testing for ALD Routine newborn screening dried blood spots sample is used to test i |
Not yet recruiting |
Study Name: Early Diagnosis Of Childhood Cerebral ALD Condition: Adrenoleukodystrophy Date: 2016-10-25 |
Recruiting |
Study Name: Observational Study of Males With Creatine Transporter Deficiency Condition: Creatine Deficiency, X-linked Date: 2016-10-05 |
Recruiting |
Study Name: GMP Drink for PKU Study Condition: Phenylketonuria Date: 2016-08-08 Interventions: Dietary Supplement: Glycomacropeptide-based protein substitute |
Completed |
Study Name: Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1) Condition: Hereditary Tyrosinemia, Type I Date: 2016-04-21 Interventions: Drug: Nitisinone A single oral |
Completed |
Study Name: Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1) Condition: Hereditary Tyrosinemia, Type I Date: 2016-04-21 Interventions: Drug: Nitisinone A single oral dose of Nitisinone 10 mg Tablet will be administered. |