Phenylketonurias Clinical Trial
Official title:
A Prospective Study Investigating the Natural History of Adults With Phenylketonuria (PKU) Due to Phenylalanine Hydroxylase Deficiency
The objective of this study is to characterize the natural history of phenylketonuria (PKU) due to phenylalanine hydroxylase (PAH) deficiency in adults through prospective collection of clinical, cognitive, and quality of life assessments.
Phenylalanine hydroxylase (PAH) deficiency is a rare disease caused by an inborn error of metabolism. If left untreated, PAH deficiency results in progressive, irreversible neurological impairment during infancy and early childhood. This study is designed to collect information about important PKU-related symptoms and tests to characterize the natural history of PKU due to PAH deficiency in a selected sample of adults. No new investigational treatment will be administered to participating patients. ;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Recruiting |
NCT05998109 -
PheCheck Feasibility Study
|
||
| Not yet recruiting |
NCT04433728 -
Life With Phenylketonuria. Adult Neurological Outcome of PCU Screened Patients From 1971 to 2002.
|
||
| Completed |
NCT01209819 -
Bone Mineral Density in Adults With Hyperphenylalaninemia
|
N/A | |
| Active, not recruiting |
NCT05174559 -
Additional Dietary Large Neutral Amino Acids (LNAA) for Improved Symptoms in Adult Classical Phenylktonuria (PKU)
|
N/A | |
| Not yet recruiting |
NCT04969809 -
Comparison of Atherogenic Risk Factors and Efficacy of Nutritional Treatment Among Adult Phenylketonuria Patients
|
N/A | |
| Recruiting |
NCT04404530 -
Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)
|
||
| Recruiting |
NCT05827536 -
Open-label, Randomized, 2-way Crossover, Monocentric, Controlled Study to Evaluate the Effect on Daily PHE Fluctuation of PKU GOLIKE Versus SoC in Patients With PKU.
|
N/A | |
| Active, not recruiting |
NCT05971563 -
Amino Acid Kinetics of GMP-AA in Healthy Human Volunteers
|
N/A | |
| Enrolling by invitation |
NCT03655223 -
Early Check: Expanded Screening in Newborns
|
||
| Completed |
NCT04368624 -
PKU Skin Stripping
|
||
| Completed |
NCT04452513 -
A Prospective Clinical Study of Phenylketonuria (PKU)
|
||
| Completed |
NCT05497050 -
The Effect of Nursing Empowerment Program
|
N/A | |
| Completed |
NCT04943393 -
Remote Neurocognitive and Psychological Assessment in PKU
|
||
| Completed |
NCT05096988 -
Evaluation of PKU Sphere Liquid
|
N/A | |
| Completed |
NCT00225615 -
A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels
|
Phase 3 | |
| Recruiting |
NCT05128149 -
Metabolic Control and Patient Well-being in Phenylketonuria: do Guidelines Make a Difference?
|
||
| Terminated |
NCT05229549 -
Study to Evaluate the Effect on Nitrogen Retention of Two Different Posology Schemes of PKU GOLIKE PLUS 3-16 and Free AAs in Patients With Phenylketonuria
|
N/A | |
| Enrolling by invitation |
NCT05356377 -
Preliminary Study of Brain Effects of Palynziq-Related Changes in Phenylalanine in Individuals With PKU
|
||
| Not yet recruiting |
NCT06332807 -
AAV Gene Therapy Clinical Study in Adult Classic PKU
|
Phase 1/Phase 2 | |
| Not yet recruiting |
NCT06337864 -
Evaluating the Efficacy and Safety of Large Neutral Amino Acids in the Treatment of Classical Phenylketonuria
|
N/A |