240. Phenylketonuria
125 clinical trials, 95 drugs (DrugBank: 11 drugs), 1 drug target gene, 5 drug target pathways
Searched query = "Phenylketonuria", "PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia"
The queries were searched in Public_title, Scientific_title, and Condition. Export date: 03/15/2021. Trials are sorted by Date_enrollment from most recent to oldest in the table.
| No. | TrialID | Date_ enrollment | Date_ registration | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NCT03519711 (ClinicalTrials.gov) | June 24, 2018 | 11/4/2018 | A Study of CNSA-001 in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia | A Phase 1/2, Open-Label, Randomized Parallel Arm, Intra-patient Dose Escalation Study to Evaluate the Safety, Pharmacokinetics and Preliminary Efficacy of CNSA-001(Sepiapterin) in Primary Tetrahydrobiopterin Deficient Patients With Hyperphenylalaninemia | BH4 Deficiency;Hyperphenylalaninemia | Drug: CNSA-001 | PTC Therapeutics | NULL | Active, not recruiting | 12 Months | N/A | All | 6 | Phase 1;Phase 2 | United States;Germany |
| 2 | NCT03864029 (ClinicalTrials.gov) | October 10, 2017 | 22/2/2019 | Retrospective Observational Safety Effectiveness With Kuvan in hpA | An Observational Study Research to Collect the Effectiveness and Safety Data of KUVAN® Retrospectively in Chinese Subjects With Hyperphenylalaninemia (HPA) Caused by Tetrahydrobiopterin (BH4) Deficiency | Tetrahydrobiopterin Deficiency | Drug: KUVAN | BioMarin Pharmaceutical | Quintiles, Inc. | Completed | N/A | N/A | All | 26 | China | |
| 3 | NCT00432822 (ClinicalTrials.gov) | February 2007 | 7/2/2007 | Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety | Double-Blind, Placebo Controlled, Multicentre Study With an Open Label Extension to Evaluate the Efficacy and Safety of Tetrahydrobiopterin (BH4) in Children and Adolescents With Hyperphenylalaninemia Caused by Phenylalanine Hydroxylase Deficiency | Phenylalanine Hydroxylase Deficiencies | Drug: tetrahydrobiopterin (BH4) | Orphanetics Pharma Entwicklungs GmbH | NULL | Terminated | N/A | 18 Years | Both | 50 | Phase 2;Phase 3 | NULL |
| 4 | EUCTR2006-000648-15-AT (EUCTR) | 08/06/2006 | 05/04/2006 | A double-blind, placebo-controlled, multicentre study with an open-label extension to evaluate the efficacy and safety of tetrahydrobiopterin (BH4) in children and adolescents with hyperphenylalaninemia caused by phenylalanine hydroxylase deficiency | A double-blind, placebo-controlled, multicentre study with an open-label extension to evaluate the efficacy and safety of tetrahydrobiopterin (BH4) in children and adolescents with hyperphenylalaninemia caused by phenylalanine hydroxylase deficiency | Hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. Phenotypes: classic phenylketonuria (PKU), mild PKU (MPK) or mild hyperphenylalaninemia (HPA). MedDRA version: 81;Level: LLT;Classification code 10034873 | Product Name: tetrahydrobiopterin Product Code: BH4 INN or Proposed INN: Sapropterin Other descriptive name: n.a. | ORPHANETICS Pharma Entwicklungs- GmbH | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 75 | Austria | |||
| 5 | NCT00244218 (ClinicalTrials.gov) | April 2005 | 25/10/2005 | Response to Phenylketonuria to Tetrahydrobiopterin (BH4) | Response to Phenylketonuria to Tetrahydrobiopterin (BH4) | Phenylketonuria | Drug: tetrahydrobiopterin (BH4) | FDA Office of Orphan Products Development | NULL | Recruiting | 10 Years | N/A | Both | 36 | Phase 1 | United States |