Classic phenylketonuria

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ORPHA:79254E70.0
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2Active trials37Specialists8Treatment centers

Where are you in your journey?

ℹ
UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Also known as:

Classic PKUPKU
Orphanet ↗NORD ↗

FDA & Trial Timeline

10 events
Mar 2026Immune Modulation During Palynziq® Treatment in Adults (IMPALA)

BioMarin Pharmaceutical — PHASE4

TrialNOT YET RECRUITING
Mar 2026A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria

Agios Pharmaceuticals, Inc. — PHASE1

TrialNOT YET RECRUITING
Feb 2026PKU Protein Requirements

Emory University — NA

TrialNOT YET RECRUITING
Oct 2025Early-Life Strategies for Preventing Obesity in Preschool-aged Children

Peking University — NA

TrialACTIVE NOT RECRUITING
Sep 2025Weight Management Program for Obese Preschool Children

Peking University — NA

TrialNOT YET RECRUITING
Jan 2025Rapid Drug Desensitization Study in Adults Experiencing Hypersensitivity Reactions to Palynziq

BioMarin Pharmaceutical — PHASE4

TrialRECRUITING
Nov 2024Effect of Large Neutral Amino Acids in Adults With Classical Phenylketonuria

Rigshospitalet, Denmark — NA

TrialRECRUITING
Jun 2024Phe for Me? The Effects of L-Phe on PKU Carriers and Non-carriers

University of Guelph — NA

TrialRECRUITING
Jan 2023Evaluation of Low Phenylalanine Formulas

Ajinomoto Co., Inc. — NA

TrialACTIVE NOT RECRUITING
Sep 2021Comparison of Atherogenic Risk Factors and Efficacy of Nutritional Treatment Among Adult Phenylketonuria Patients

University Medical Centre Ljubljana — NA

TrialNOT YET RECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Classic phenylketonuria.

2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

2 recruitingView all trials with filters →
Phase 41 trial
Rapid Drug Desensitization Study in Adults Experiencing Hypersensitivity Reactions to Palynziq
Phase 4
Actively Recruiting
PI: Medical Director, MD (BioMarin Pharmaceutical) · Sites: Chevy Chase, Maryland · Age: 18–99 yrs
View on ClinicalTrials.gov ↗I'm interested →
N/A1 trial
Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria
N/A
Actively Recruiting
PI: Rani H Singh, PhD RD (Emory University) · Sites: Atlanta, Georgia · Age: 11–99 yrs
View on ClinicalTrials.gov ↗I'm interested →

Specialists

Showing 25 of 37View all specialists →
DP
Desiree White, Ph.D.
Specialist
PI on 2 active trials
FM
François MAILLOT, MD-PhD
Specialist
PI on 2 active trials
AM
Andrea L Gropman, M.D.
WASHINGTON, DC
Specialist
PI on 2 active trials
DM
Dorothy K. Grange, M.D.
SAINT LOUIS, MO
Specialist
PI on 1 active trial
DL
Debra Lounsbury
Specialist
PI on 5 active trials1 Classic phenylketonuria publication
RP
Rajavel Elango, Ph.D
Specialist
PI on 2 active trials
JM
Joshua Lilienstein, M.D.
JAMAICA PLAIN, MA
Specialist
PI on 1 active trial
SM
Suyash Prasad, MD
Specialist
PI on 1 active trial
RP
Rajavel Elango, PhD
Vancouver, British Columbia
Specialist

Rare Disease Specialist

PI on 5 active trials
AM
Anita MacDonald
Birmingham
Specialist

Rare Disease Specialist

PI on 10 active trials
AM
Annette Feigenbaum, MD
SAN DIEGO, CA
Specialist
PI on 1 active trial1 Classic phenylketonuria publication
CM
Celeste Decker, MD
CONCORD, NH
Specialist
PI on 5 active trials
DM
Don Nwose, MD
Specialist
PI on 2 active trials
SP
Shawn Christ, PhD
Specialist
PI on 2 active trials
HM
Heather W Saavedra, MS
CHARLESTON, SC
Specialist
PI on 2 active trials
MP
Michel Hochuli, MD PhD
Specialist
PI on 1 active trial
CP
Can Ficicioglu, MD, PhD
PHILADELPHIA, PA
Specialist
PI on 2 active trials
KM
Komudi Siriwardena, MD
Specialist
PI on 1 active trial
JP
Júlio C Rocha, PhD
Specialist
PI on 1 active trial
KR
Krista Viau, PhD, RD
SALT LAKE CITY, UT
Specialist
PI on 1 active trial
MM
Murray Potter, MD
Specialist
PI on 1 active trial
RP
Rebecca Stratton, PhD
GREENVILLE, MI
Specialist
PI on 3 active trials
LM
Lori-Anne P Schillaci, MD
CLEVELAND, OH
Specialist
PI on 1 active trial1 Classic phenylketonuria publication
RS
Rani Singh
DECATUR, GA
Specialist
PI on 1 active trial
AG
Ari Gershman
Specialist
PI on 2 active trials

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center ↗

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center ↗

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program ↗

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site ↗

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site ↗

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site ↗

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine ↗

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program ↗

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Classic phenylketonuria.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Classic phenylketonuriaForum →

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Latest news about Classic phenylketonuria

Disease timeline:

New recruiting trial: Phe for Me? The Effects of L-Phe on PKU Carriers and Non-carriers

A new clinical trial is recruiting patients for Classic phenylketonuria

New recruiting trial: Phenylalanine-free Diet for Patients With Secondary Hyperphenylalaninemia in ICU

A new clinical trial is recruiting patients for Classic phenylketonuria

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

A new clinical trial is recruiting patients for Classic phenylketonuria

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

A new clinical trial is recruiting patients for Classic phenylketonuria

New recruiting trial: Walking Program in Fatty Liver Children With Phenylketonuria

A new clinical trial is recruiting patients for Classic phenylketonuria

New recruiting trial: Development of Novel Psychological Assessment Tools and Anxiety Intervention for Phenylketonuria

A new clinical trial is recruiting patients for Classic phenylketonuria

New recruiting trial: A Study to Evaluate the Safety and Efficacy of JNT-517 in Participants With Phenylketonuria (PKU)

A new clinical trial is recruiting patients for Classic phenylketonuria

New recruiting trial: Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)

A new clinical trial is recruiting patients for Classic phenylketonuria

New recruiting trial: A Phase 2 Study of JNT-517 in Adolescent Participants With Phenylketonuria

A new clinical trial is recruiting patients for Classic phenylketonuria

New recruiting trial: Rapid Drug Desensitization Study in Adults Experiencing Hypersensitivity Reactions to Palynziq

A new clinical trial is recruiting patients for Classic phenylketonuria

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Classic phenylketonuria

Are there clinical trials for Classic phenylketonuria?

Yes — 2 recruiting clinical trials are currently listed for Classic phenylketonuria on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Classic phenylketonuria?

25 specialists and care centers treating Classic phenylketonuria are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.