phenylketonuria
Information
- Disease name
- phenylketonuria
- Disease ID
- DOID:9281
- Description
- "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional." [url:http\://en.wikipedia.org/wiki/Phenylketonuria, url:https\://www.genome.gov/Genetic-Disorders/Phenylketonuria]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00484991 | Approved for marketing | Sapropterin Expanded Access Program | |||
| NCT00065299 | Completed | N/A | Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU) | May 1984 | April 2000 |
| NCT00260000 | Completed | Phase 2 | Study of BH4, a New and Simple Treatment of Mild PKU | April 2005 | December 2005 |
| NCT00309400 | Completed | The Early History of Universal Screening for Metabolic Disorders | January 2006 | June 2008 | |
| NCT00332189 | Completed | Phase 3 | Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 | July 2006 | August 2009 |
| NCT00892554 | Completed | N/A | The Effect of Supplemental Docosahexaenoic Acid (DHA) on Neurocognitive Outcomes in Teen and Adult Women With Phenylketonuria(PKU) | June 2007 | January 2010 |
| NCT01917344 | Completed | N/A | The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study | August 2013 | June 2014 |
| NCT01924026 | Completed | Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study | September 2013 | February 2016 | |
| NCT01965691 | Completed | N/A | Protein Requirements in Children With Phenylketonuria (PKU) | October 2013 | December 2015 |
| NCT01965912 | Completed | Phase 4 | Kuvan®'s Effect on the Cognition of Children With Phenylketonuria | October 2013 | January 4, 2023 |
| NCT02176603 | Completed | Observational Study of Endothelial Dysfunction in Phenylketonuria | May 2014 | January 1, 2017 | |
| NCT02297347 | Completed | The Brain and Neuropsychological Functioning in Adults With Sapropterin Dihydrochloride Treated Phenylketonuria | April 2015 | April 2017 | |
| NCT02468570 | Completed | A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302 | August 5, 2015 | February 1, 2017 | |
| NCT02555579 | Completed | N/A | Simplified Diet Approach in Phenylketonuria | October 26, 2015 | September 20, 2017 |
| NCT02677870 | Completed | Phase 4 | The Effectiveness of Kuvan in Amish PKU Patients | January 22, 2018 | January 1, 2019 |
| NCT02915510 | Completed | N/A | GMP Drink for PKU Study | July 2016 | September 27, 2019 |
| NCT03058848 | Completed | N/A | Evaluation of PKU Start | March 6, 2017 | September 15, 2017 |
| NCT03097250 | Completed | MRI Spectroscopy and Neuropsychological Functioning in Phenylketonuria | October 25, 2017 | July 1, 2018 | |
| NCT03168399 | Completed | N/A | Evaluation of PKU Explore | June 8, 2017 | March 15, 2018 |
| NCT03516487 | Completed | Phase 1/Phase 2 | Safety and Tolerability of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With Phenylketonuria | April 17, 2018 | June 21, 2019 |
| NCT03788343 | Completed | Phase 4 | Phenylalanine and Its Impact on Cognition | August 19, 2019 | June 17, 2022 |
| NCT03858101 | Completed | SNAP: Study Nutrients in Adult PKU | April 15, 2019 | May 15, 2023 | |
| NCT04085666 | Completed | Phase 1 | Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of CDX-6114 in Patients With Phenylketonuria (PKU) | June 1, 2019 | August 30, 2020 |
| NCT04534842 | Completed | Phase 2 | Efficacy and Safety of SYNB1618 and SYNB1934 in Adult Patients With Phenylketonuria | August 25, 2020 | October 7, 2022 |
| NCT04879277 | Completed | N/A | Study of Low-grade Systemic Inflammation in Adult Patients With Phenylketonuria | May 26, 2021 | August 25, 2021 |
| NCT05099640 | Completed | Phase 3 | A Study of PTC923 in Participants With Phenylketonuria | September 30, 2021 | May 3, 2023 |
| NCT00634660 | Completed | Phase 1 | Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria | May 2008 | October 2009 |
| NCT00688844 | Completed | Nutritional and Neurotransmitter Changes in PKU Subjects on BH4 | October 2008 | October 2010 | |
| NCT00728676 | Completed | Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors | August 2008 | May 2010 | |
| NCT00730080 | Completed | Sapropterin in Individuals With Phenylketonuria | July 2008 | May 2018 | |
| NCT00778206 | Completed | PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry | September 2008 | January 29, 2021 | |
| NCT00789568 | Completed | Phase 1 | A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects | October 2008 | October 2009 |
| NCT00838435 | Completed | Phase 3 | Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU | February 2009 | September 14, 2018 |
| NCT00841100 | Completed | Phase 2 | Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response | December 2008 | July 19, 2011 |
| NCT00006142 | Completed | N/A | Study of a Phenylalanine Restricted Diet During Pregnancy to Prevent Symptoms in Offspring of Patients With Phenylketonuria | December 1983 | |
| NCT00909012 | Completed | N/A | Quantitative Requirements of Docosahexaenoic Acid for Neural Function in Children With Phenylketonuria | May 2009 | March 2013 |
| NCT00924703 | Completed | Phase 2 | Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003) | January 13, 2010 | January 31, 2019 |
| NCT00925054 | Completed | Phase 2 | Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU | September 2009 | June 2015 |
| NCT00964236 | Completed | The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU) | August 2009 | August 2011 | |
| NCT00986973 | Completed | N/A | Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy | March 2010 | September 2011 |
| NCT01082328 | Completed | Phase 4 | Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period | May 2010 | May 2012 |
| NCT01096758 | Completed | Follow-up of Adult Phenylketonuria (PKU) Patients | March 2010 | September 2013 | |
| NCT01114737 | Completed | Phase 3 | Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients | August 2010 | March 2013 |
| NCT01212744 | Completed | Phase 2 | Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU) | March 2011 | April 2015 |
| NCT01274026 | Completed | Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders | January 2011 | December 2013 | |
| NCT01376908 | Completed | Phase 3 | Kuvan® in Phenylketonuria Patients Less Than 4 Years Old | June 2011 | February 17, 2017 |
| NCT01428258 | Completed | N/A | Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of Phenylketonuria | September 2011 | May 2016 |
| NCT01560286 | Completed | Phase 2 | A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks | May 2012 | July 2015 |
| NCT01732471 | Completed | Phase 3 | Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria | November 2012 | October 2013 |
| NCT01819727 | Completed | Phase 3 | An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 | May 2013 | November 25, 2015 |
| NCT01869972 | Completed | Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia | May 2013 | December 2015 | |
| NCT04348708 | Enrolling by invitation | Long-Term Follow Up Study of Subjects Previously Administered HMI 102 | August 19, 2020 | December 1, 2026 | |
| NCT06289348 | Not yet recruiting | Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience. | April 2024 | April 2027 | |
| NCT05972629 | Recruiting | Phase 1/Phase 2 | A Phase 1/Phase 2 Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Administration of SAR444836 in Adult Participants With Phenylketonuria | August 7, 2023 | July 31, 2027 |
| NCT06147856 | Recruiting | Phase 1/Phase 2 | A Dose-finding Study to Evaluate mRNA-3210 in Participants With Phenylketonuria | March 29, 2024 | August 5, 2027 |
| NCT05781399 | Recruiting | Phase 1 | First-in-Human, Multiple Part Clinical Study of JNT-517 in Healthy Participants and in Participants With Phenylketonuria | October 31, 2022 | March 2025 |
| NCT05894122 | Recruiting | Evaluation of Capillary Blood Collection Devices (Mitra® and HemaPEN®) | December 13, 2023 | December 12, 2025 | |
| NCT05948020 | Recruiting | N/A | Efficacy and Safety of Orally Administered Engineered Probiotics (CBT102-A) for the Treatment of Children With Phenylketonuria | September 2, 2023 | March 2024 |
| NCT06302348 | Recruiting | Phase 3 | A Study of Sepiapterin in Participants With Phenylketonuria (PKU) | March 4, 2024 | February 28, 2031 |
| NCT01659749 | Recruiting | N/A | Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria | June 1995 | July 2037 |
| NCT05166161 | Recruiting | Phase 3 | A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria | February 14, 2022 | February 7, 2025 |
| NCT00244218 | Terminated | Phase 1 | Response to Phenylketonuria to Tetrahydrobiopterin (BH4) | April 2005 | January 2015 |
| NCT01395394 | Terminated | Phase 2 | Phenylketonuria, Oxidative Stress, and BH4 | June 2011 | June 2013 |
| NCT01465100 | Terminated | Phase 1/Phase 2 | Liver Cell Transplant for Phenylketonuria | October 12, 2011 | June 17, 2016 |
| NCT01541397 | Terminated | N/A | Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy | June 2011 | August 2012 |
| NCT00827762 | Terminated | Behavioral Effects of Kuvan in Children With Mild Phenylketonuria | January 2009 | January 2010 | |
| NCT05222178 | Terminated | Phase 1 | Safety and Efficacy of HMI-103 in Participants With Classical PKU Due to PAH Deficiency | June 3, 2022 | September 14, 2023 |
| NCT01904708 | Terminated | N/A | Moderate Intensity Exercise and Phenylketonuria | May 2013 | June 2014 |
| NCT05764239 | Terminated | Phase 3 | Efficacy and Safety of SYNB1934 in Patients With PKU (SYNPHENY-3) | July 5, 2023 | March 15, 2024 |
| NCT01977820 | Terminated | Phase 2 | Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria | February 2014 | November 2014 |
| NCT03939052 | Unknown status | N/A | Protein Requirements in Adults With Phenylketonuria (PKU) | July 19, 2019 | May 2020 |
- Disase is a (Disease Ontology)
- DOID:9252
- Cross Reference ID (Disease Ontology)
- GARD:7383
- Cross Reference ID (Disease Ontology)
- ICD9CM:270.1
- Cross Reference ID (Disease Ontology)
- MESH:D010661
- Cross Reference ID (Disease Ontology)
- MESH:D017042
- Cross Reference ID (Disease Ontology)
- MIM:261600
- Cross Reference ID (Disease Ontology)
- NCI:C81315
- Cross Reference ID (Disease Ontology)
- ORDO:716
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:154735006
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:297225000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0031485
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0085547
- Exact Synonym (Disease Ontology)
- Folling's disease
- Exact Synonym (Disease Ontology)
- maternal phenylketonuria
- Exact Synonym (Disease Ontology)
- phenylalaninemia
- Exact Synonym (Disease Ontology)
- PKU
- OrphaNumber from OrphaNet (Orphanet)
- 716