Natural History Clinical Study in Adult PKU

Status Terminated

Clinical Trial Summary

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.

Clinical Trial Description

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. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT04768348
Study type	Observational
Source	Homology Medicines, Inc
Contact
Status	Terminated
Phase
Start date	April 20, 2021
Completion date	August 1, 2023

View Details

See also
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
Not yet recruiting	`NCT06332807` - AAV Gene Therapy Clinical Study in Adult Classic PKU	Phase 1/Phase 2
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	`NCT06337864` - Evaluating the Efficacy and Safety of Large Neutral Amino Acids in the Treatment of Classical Phenylketonuria	N/A