Hyperphenylalaninemia
Information
- Disease name
- Hyperphenylalaninemia
- Disease ID
- Description
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01619722 | Completed | Study of a National Cohort of Adult Patients With Phenylketonuria | March 15, 2012 | July 6, 2020 | |
| NCT01869972 | Completed | Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia | May 2013 | December 2015 | |
| NCT02212288 | Completed | Antioxidant Signature in Adult Patients With Phenylketonuria | September 2014 | January 2015 | |
| NCT03519711 | Completed | Phase 1/Phase 2 | A Study of PTC923 (CNSA-001) in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia | January 3, 2019 | October 2, 2020 |
| NCT01541397 | Terminated | N/A | Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy | June 2011 | August 2012 |
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0004923