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ClinicalTrials.gov public records Last synced Jul 21, 2026, 7:28 PM EDT

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Showing 1–24 of 256 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Amino Acid Metabolism, Inborn Errors Clear all
Recruiting No phase listed Observational

A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace)

NCT05813678
View directory record Official record
Conditions
Phenylketonuria (PKU)
Interventions
Pegvaliase
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Not listed
Enrollment
450 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2033
U.S. locations
12
States / cities
Aurora, Colorado • Atlanta, Georgia • Chicago, Illinois + 9 more
Source: ClinicalTrials.gov public record
Updated Mar 24, 2026 · Synced Jul 21, 2026, 7:28 PM EDT
Completed Phase 2 Interventional Results available

Ponatinib for Patients Whose Advanced Solid Tumor Cancer Has Activating Mutations Involving the Following Genes: FGFR1, FGFR2, FGFR3, FGFR4, RET, KIT.

NCT02272998
View directory record Official record
Conditions
Malignant Neoplasm
Interventions
ponatinib hydrochloride, laboratory biomarker analysis
Drug · Other
Lead sponsor
Sameek Roychowdhury
Other
Eligibility
18 Years and older
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
2
States / cities
Ann Arbor, Michigan • Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Mar 23, 2025 · Synced Jul 21, 2026, 7:28 PM EDT
Completed Not applicable Interventional

An Open Label Evaluation of the Safety and Pharmacokinetics of Ganciclovir in Children

NCT00002015
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
Roche Global Development
Other
Eligibility
3 Months to 12 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
8
States / cities
Birmingham, Alabama • Los Angeles, California • Chicago, Illinois + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 21, 2026, 7:28 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria

NCT01659749
View directory record Official record
Conditions
Pregnancy, Phenylketonuria
Interventions
Metabolic camp
Behavioral
Lead sponsor
Emory University
Other
Eligibility
11 Years and older · Female only
Enrollment
200 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1995 – 2037
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated May 6, 2026 · Synced Jul 21, 2026, 7:28 PM EDT
Active, not recruiting Phase 3 Interventional

Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency

NCT05345171
View directory record Official record
Conditions
OTC Deficiency
Interventions
DTX301, Placebo, Oral Corticosteroids, Placebo for oral corticosteroids, Sodium Acetate
Genetic · Other · Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
12 Years and older
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2031
U.S. locations
4
States / cities
Los Angeles, California • Aurora, Colorado • Chicago, Illinois + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 1, 2026 · Synced Jul 21, 2026, 7:28 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Remote Neurocognitive and Psychological Assessment in PKU

NCT04943393
View directory record Official record
Conditions
Phenylketonurias
Interventions
nointervention
Other
Lead sponsor
University of Missouri-Columbia
Other
Eligibility
18 Years to 40 Years
Enrollment
84 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2021
U.S. locations
2
States / cities
Atlanta, Georgia • Columbia, Missouri
Source: ClinicalTrials.gov public record
Updated Apr 21, 2022 · Synced Jul 21, 2026, 7:28 PM EDT
Completed Phase 2 Interventional Results available

A Phase 2, Pharmacokinetic (PK) Study of 6R-BH4 Alone or 6R-BH4 With Vitamin C in Subjects With Endothelial Dysfunction

NCT00532844
View directory record Official record
Conditions
Endothelial Dysfunction
Interventions
Sapropterin Dihydrochloride, Sapropterin Dihydrochloride and Vitamin C
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
18 Years to 75 Years
Enrollment
52 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2009
U.S. locations
1
States / cities
Hackensack, New Jersey
Source: ClinicalTrials.gov public record
Updated May 16, 2021 · Synced Jul 21, 2026, 7:28 PM EDT
Completed Phase 2 Interventional Results available

Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003)

NCT00924703
View directory record Official record
Conditions
Phenylketonuria
Interventions
rAvPAL-PEG
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
16 Years to 55 Years
Enrollment
68 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2019
U.S. locations
14
States / cities
Aurora, Colorado • Gainesville, Florida • Chicago, Illinois + 11 more
Source: ClinicalTrials.gov public record
Updated Oct 11, 2021 · Synced Jul 21, 2026, 7:28 PM EDT
Completed Not applicable Interventional

A Study of Ganciclovir in the Treatment of Cytomegalovirus of the Large Intestine in Patients With AIDS

NCT00002273
View directory record Official record
Conditions
Colitis, HIV Infections
Interventions
Ganciclovir
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
21 Years and older · Male only
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Palo Alto, California
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 21, 2026, 7:28 PM EDT
Completed No phase listed Observational

PheCheck Feasibility Study

NCT05998109
View directory record Official record
Conditions
Phenylketonurias
Interventions
PheCheck™, HPLC Amino Acid Analyzer, Dried Blood Spot Cards
Device · Diagnostic Test
Lead sponsor
Lumos Diagnostics
Industry
Eligibility
10 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 14, 2025 · Synced Jul 21, 2026, 7:28 PM EDT
Terminated Phase 3 Interventional Results available

Efficacy and Safety of SYNB1934 in Patients With PKU (SYNPHENY-3)

NCT05764239
View directory record Official record
Conditions
Phenylketonuria
Interventions
SYNB1934v1, Placebo
Drug
Lead sponsor
Synlogic
Industry
Eligibility
18 Years and older
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
14
States / cities
Culver City, California • Orange, California • Palo Alto, California + 11 more
Source: ClinicalTrials.gov public record
Updated Jun 19, 2024 · Synced Jul 21, 2026, 7:28 PM EDT
Terminated Phase 2 Interventional

Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia

NCT04732429
View directory record Official record
Conditions
Methylmalonic Acidemia, Propionic Acidemia
Interventions
HST5040, Placebo
Drug
Lead sponsor
HemoShear Therapeutics
Industry
Eligibility
2 Years and older
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
14
States / cities
San Diego, California • New Haven, Connecticut • Washington D.C., District of Columbia + 11 more
Source: ClinicalTrials.gov public record
Updated Jan 4, 2024 · Synced Jul 21, 2026, 7:28 PM EDT
Recruiting Phase 1 Interventional

A Study of the c-Kit Specific Antibody-Drug Conjugate NN3201 for Advanced and/or Metastatic Solid Tumors Known to Express c-Kit

NCT06805825
View directory record Official record
Conditions
Gastrointestinal Stromal Tumors, Small-cell Lung Cancer, Adenoid Cystic Carcinoma, Uveal Melanoma, Neuroendocrine Tumors, Chromophobe Renal Cell Carcinoma, Clear Cell Renal Cell Carcinoma
Interventions
NN3201
Drug
Lead sponsor
Novelty Nobility, Inc.
Industry
Eligibility
18 Years and older
Enrollment
67 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
5
States / cities
Ann Arbor, Michigan • Cleveland, Ohio • Portland, Oregon + 2 more
Source: ClinicalTrials.gov public record
Updated Sep 22, 2025 · Synced Jul 21, 2026, 7:28 PM EDT
Completed No phase listed Observational

Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism

NCT00808106
View directory record Official record
Conditions
Oculocutaneous Albinism
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Year to 80 Years
Enrollment
206 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 5, 2020 · Synced Jul 21, 2026, 7:28 PM EDT
Terminated No phase listed Observational

Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia

NCT05438485
View directory record Official record
Conditions
Methylmalonic Acidemia, Propionic Acidemia
Interventions
Registry
Other
Lead sponsor
HemoShear Therapeutics
Industry
Eligibility
Not listed
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Dec 26, 2023 · Synced Jul 21, 2026, 7:28 PM EDT
Recruiting No phase listed Observational

A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)

NCT06305234
View directory record Official record
Conditions
Phenylketonuria (PKU)
Interventions
Pegvaliase
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Not listed
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2033
U.S. locations
11
States / cities
Aurora, Colorado • Atlanta, Georgia • Chicago, Illinois + 8 more
Source: ClinicalTrials.gov public record
Updated Mar 23, 2026 · Synced Jul 21, 2026, 7:28 PM EDT
Not listed Phase 2 Interventional

Efficacy and Safety of Pirfenidone Treatment in HPS-ILD

NCT04193592
View directory record Official record
Conditions
Hermansky Pudlak Syndrome, Interstitial Lung Disease
Interventions
Pirfenidone
Drug
Lead sponsor
Jesse Roman
Other
Eligibility
18 Years to 75 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 9, 2019 · Synced Jul 21, 2026, 7:28 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A Study Investigating the Pharmacokinetic Profiles of Four Extended Release Paracetamol Formulations

NCT01568749
View directory record Official record
Conditions
Analgesia
Interventions
Paracetamol, Paracetamol formulation 1, Paracetamol Formulation 2, Paracetamol formulation 3, Paracetamol formulation 4
Drug
Lead sponsor
GlaxoSmithKline
Industry
Eligibility
18 Years to 50 Years
Enrollment
14 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2008 – 2009
U.S. locations
1
States / cities
Phoenix, Arizona
Source: ClinicalTrials.gov public record
Updated Nov 23, 2014 · Synced Jul 21, 2026, 7:28 PM EDT
Completed Phase 1 Interventional

A Randomized Comparative Pharmacokinetic Study of Oral Ganciclovir After Treatment With Intravenous Ganciclovir for Cytomegalovirus Gastrointestinal Disease in AIDS Patients

NCT00000768
View directory record Official record
Conditions
Colitis, HIV Infections
Interventions
Glutamic acid hydrochloride, Ganciclovir
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
13 Years and older
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 1998
U.S. locations
5
States / cities
Birmingham, Alabama • San Francisco, California • St Louis, Missouri + 2 more
Source: ClinicalTrials.gov public record
Updated Nov 3, 2021 · Synced Jul 21, 2026, 7:28 PM EDT
Terminated Not applicable Interventional Accepts healthy volunteers Results available

A Pilot Study on Diurnal Variation

NCT01806051
View directory record Official record
Conditions
Phenylketonuria (PKU)
Interventions
Kuvan
Drug
Lead sponsor
Dr. Linda Randolph
Other
Eligibility
4 Years and older
Enrollment
6 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2014
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Apr 19, 2016 · Synced Jul 21, 2026, 7:28 PM EDT
Completed Phase 3 Interventional

Phase III Ganciclovir +/- rGM-CSF for AIDS-Related CMV Retinitis

NCT00002070
View directory record Official record
Conditions
Cytomegalovirus Retinitis, HIV Infections
Interventions
Sargramostim, Ganciclovir
Drug
Lead sponsor
Schering-Plough
Industry
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
14
States / cities
Los Angeles, California • San Francisco, California • Sherman Oaks, California + 7 more
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 21, 2026, 7:28 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Safety, Tolerability and Pharmacodynamics of SYNB1353 in Healthy Adult Volunteers

NCT05462132
View directory record Official record
Conditions
Homocystinuria
Interventions
SYNB1353
Drug
Lead sponsor
Synlogic
Industry
Eligibility
18 Years to 64 Years
Enrollment
31 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022
U.S. locations
1
States / cities
High Point, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 16, 2023 · Synced Jul 21, 2026, 7:28 PM EDT
Completed Phase 2 Interventional Results available

Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU)

NCT01212744
View directory record Official record
Conditions
Phenylketonuria
Interventions
rAvPAL-PEG
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
16 Years to 70 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2015
U.S. locations
9
States / cities
Aurora, Colorado • Gainesville, Florida • Louisville, Kentucky + 6 more
Source: ClinicalTrials.gov public record
Updated Feb 25, 2019 · Synced Jul 21, 2026, 7:28 PM EDT
Completed Not applicable Interventional Results available

Low Cost OCT for Point of Care

NCT03323307
View directory record Official record
Conditions
Optical Coherence Tomography (OCT) of the Retina
Interventions
OCT imaging
Device
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Dec 4, 2019 · Synced Jul 21, 2026, 7:28 PM EDT