TrialFinder  /  Landscape Report PHENYLKETONURIA  ·  2026-07-18 Revasser  /  revasserkernel.com
Landscape Report TrialFinder
SOURCE  ClinicalTrials.gov API v2
GENERATED  2026-07-18
VERSION  v1
SAMPLE  100 of 515 studies

phenylketonuria

The phenylketonuria clinical trial landscape includes 515 actively recruiting trials. Semantic expansion identified 485 additional trials beyond exact-match search, representing a 1616.7% discovery lift across related conditions and therapeutic approaches.

Recruiting
515
active trials
Expansion Lift
+1616.7%
485 additional trials
Top Sponsor
Mayo Clinic
3 trials
Dominant Phase
N/A
49 of 108 sampled
Pipeline Overview
Phase Distribution
NA
17
Early I
4
Phase 1
15
Phase 2
11
Phase 3
8
Phase 4
4
Other
49
Therapeutic Modalities
DRUG
59
DIAGNOSTIC_TEST
21
OTHER
19
PROCEDURE
11
DIETARY_SUPPLEMENT
5
BIOLOGICAL
5
GENETIC
4
BEHAVIORAL
4
Recruiting vs. Completed (2yr)
Recruiting
515
Completed
191
Competitive Landscape
Sponsor Classification
71%
21%
8%
OTHER (17)
INDUSTRY (5)
NIH (2)
Top Sponsors
SponsorTrialsClass
Mayo Clinic3OTHER
University Hospital, Essen2OTHER
Genzyme, a Sanofi Company2INDUSTRY
Yale University2OTHER
Verve Therapeutics, Inc.2INDUSTRY
National Human Genome Research Institute (NHGRI)2NIH
Emory University2OTHER
Brigham and Women's Hospital2OTHER
Massachusetts General Hospital1OTHER
Duke University1OTHER
University of Exeter1OTHER
The First Affiliated Hospital of Bengbu Medical University1OTHER
Genetix Biotherapeutics Inc.1INDUSTRY
Paolo Milani1OTHER
University Hospital, Strasbourg, France1OTHER
Geographic Distribution
Top U.S. States by Trial Density
StateTrialsTop City
California39Los Angeles
New York27New York
Pennsylvania25Philadelphia
Massachusetts24Boston
Texas24Dallas
Florida23Jacksonville
Minnesota20Minneapolis
Ohio18Cleveland
Michigan14Ann Arbor
Illinois12Chicago
New Jersey12Morristown
North Carolina10Durham
Georgia10Atlanta
Maryland10Bethesda
Virginia10Fairfax
Missouri9St Louis
Oregon9Portland
Washington9Seattle
Wisconsin7Milwaukee
Alabama6Birmingham
Expansion Intelligence
+1616.7%
Discovery lift — trials found by semantic expansion that exact-match search misses entirely. This is the gap competitors don't see.
2
Exact
2
Parent
3
Related
4
Therapeutic
Top Expansion Terms
  • amino acid metabolism disorder Parent
  • inborn error of metabolism Parent
  • phenylalanine Related
  • BH4 deficiency Related
  • hyperphenylalaninemia Related
  • pegvaliase Therapeutic
  • sapropterin Therapeutic
  • gene therapy PKU Therapeutic
  • phenylalanine ammonia lyase Therapeutic

These terms are curated from clinical literature — not generated by a language model. Each captures trials that use variant nomenclature for the same underlying condition or therapeutic area.

Key Findings
What This Landscape Means for phenylketonuria
high
Standard searches miss 1617% of relevant trials for phenylketonuria — semantic expansion across related conditions and therapeutic approaches is essential for complete landscape visibility.
485 additional trials found via expansion vs 30 exact matches
high
8 Phase 3 trials indicate a maturing pipeline with near-term approval potential.
Phase 3 represents 7% of sampled trials
medium
3 industry sponsors are actively competing in this space, signaling strong commercial interest and investment validation.
Top industry: Genzyme, a Sanofi Company, Verve Therapeutics, Inc., Genetix Biotherapeutics Inc.
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Top Recruiting Trials
20 actively recruiting studies
NCT07346079 PHASE4
Purified Cortrophin® Gel Efficacy and Safety Study of 2 Dose Levels in Patients With Acute Gout Flares
Massachusetts General Hospital n=150 Mass General Hospital Boston, Massachusetts
Intervention DRUG: Purified Cortophin Gel, 40 U — This will be the 40 U dose of the purified Cortophin Gel
Eligibility Ages 18 Years – 90 Years
Contact Ana D Fernandes, MA · 617-643-2140 · adfernandes@mgh.harvard.edu
Hybrid Florbetaben PET/MRI for Imaging of Cardiac Amyloidosis
University Hospital, Essen n=25 Department of Nuclear medicine, University Hospital Essen Essen, North Rhine-Westphalia
Eligibility Ages 40 Years
Contact David Kersting, MD, PhD · +492017232073 · david.kersting@uk-essen.de
Cognitive and Neurological Pathologies in Pompe Disease
Duke University n=45 Duke University Medical Center Durham, North Carolina
Eligibility Ages 0 Years – 18 Years
Contact Gretchen Nichting · +1 919 660 0757 · gretchen.nichting@duke.edu
The Effect of a Plant-based, Protein-dense Sauce on Essential Amino Acid Concentrations and Gut Fullness in Older Adults
University of Exeter n=20 University of Exeter Exeter, Devon
Intervention DIETARY_SUPPLEMENT: ProSauce — 10g additional protein from ProSauce
Eligibility Ages 60 Years
Contact Zhuoxiu Jin, Dr · +447529283410 · z.jin3@exeter.ac.uk
NCT06061614 EARLY_PHASE1
Safety and Efficacy Study of NGGT002 in PKU Adult Subjects
The First Affiliated Hospital of Bengbu Medical University n=15 The First Affiliated Hospital of Bengbu Medical College Bengbu, Anhui
Intervention GENETIC: NGGT002 Injection — Dose escalation will proceed sequentially from Dose Level 1 to Dose Level 5 in a single-dose administration of NGGT002.
Eligibility Ages 18 Years
Contact Huan Zhou, Doctor · 008613665527160 · zhouhuanbest@vip.163.com
Fabry Disease Registry & Pregnancy Sub-registry
Genzyme, a Sanofi Company n=9000 University of Alabama Birmingham- Nephrology- Site Number : 840018 Birmingham, Alabama
Contact Trial Transparency · 800-633-1610 · contact-us@sanofi.com
Accelerated Approval
A Study of Participants With Cerebral Adrenoleukodystrophy (CALD) Treated With Elivaldogene Autotemcel
Genetix Biotherapeutics Inc. n=120 Boston Children's Hospital Boston, Massachusetts
Intervention OTHER: No Intervention — This is non-interventional study.
Contact bluebird bio · +1-833-999-6378 · clinicaltrials@bluebirdbio.com
NatiOnal Referral cenTEr Study of Transthyretin Amyloid Cardiomyopathy(ATTR) Patients on Tafamidis
Paolo Milani n=200 Fondazione IRCCS Policlinico San Matteo Pavia
Eligibility Ages 18 Years – 99 Years
Non-invasive Assessment of Liver Fibrosis in a French Cohort of Pediatric Patients With Type III Glycogen Storage Disease: Current State and Perspectives
University Hospital, Strasbourg, France n=30 Service de pédiatrie 1 - CHU de Strasbourg - France Strasbourg
Eligibility Ages 1 Month – 21 Years
Contact Camille WICKER, MD · 33 3 88 12 77 12 · camille.wicker@chru-strasbourg.fr
Natural History of Wilson Disease
Yale University n=300 Yale University New Haven, Connecticut
Contact Ricarda Tomlin · (203) 785-2073 · ricarda.tomlin@yale.edu
Pompe Disease Registry Protocol
Genzyme, a Sanofi Company n=2000 University of Alabama at Birmingham- Site Number : 840106 Birmingham, Alabama
Contact Trial Transparency email recommended (Toll free number for US & Canada) · 800-633-1610 · contact-us@sanofi.com
NCT06451757 PHASE3
KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
Khondrion BV n=220 Massachusetts General Hospital Boston, Massachusetts
Intervention DRUG: Sonlicromanol — Administration of 90 mg sonlicromanol (100 mg sonlicromanol.HCl) twice daily during 52 weeks
Eligibility Ages 18 Years
Contact Jasper Levink, MSc. · +31 24 7635000 · Khenerfin@khondrion.com
NCT07572825 PHASE1
Assessing the Safety and Tolerability of NMN in DHDDS-CDG
Eva Morava-Kozicz n=8 Icahn School of Medicine at Mount Sinai New York, New York
Intervention DRUG: Nicotinamide Mononucleotide (NMN) Nucleosidase — Name: nicotinamide mononucleotide (NMN) Form: measured powder Dose: 250 mg/day Frequency: Daily Route of administrat...
Eligibility Ages 4 Years
Contact Georgia MacDonald, MS, CGC · 646-946-6923 · Georgia.macdonald@mssm.edu
Functional Impairment in Albinism
Fondation Ophtalmologique Adolphe de Rothschild n=50 Hôpital Fondation A. de Rothschild Paris
Intervention OTHER: questionnaire — On-line self-questionnaire, in the form of an 18-question form, the link to which is sent by e-mail to patients with alb...
Eligibility Ages 18 Years
Contact Amélie Yavchitz · +33148036454 · ayavchitz@for.paris
Prospective Research Rare Kidney Stones (ProRKS)
Mayo Clinic n=220 University of Alabama @ Birmingham Birmingham, Alabama
Contact Barb Seide · 800-270-4637 · RareKidneyStones@mayo.edu
Development of Health-related Quality of Life Instrument for Patients With Cystinosis
Cystinose Stiftung n=300 University Medical Center Hamburg-Eppendorf | Center for Psychosocial Medicine | Department of Medical Psychology Hamburg
Eligibility Ages 8 Years – 26 Years
Contact Julia Hannah Quitmann, PD Dr. · +49 (0) 40 7410 52789 · j.quitmann@uke.de
Spanish Wilson Disease Registry
Asociación Española para el Estudio del Hígado n=600 Hospital Clinic Barcelona
Eligibility Ages 18 Years
Contact Asociación Española para el Estudio del Hígado Asociación Española para el Estudio del Hígado · 0034915551119 · registrowilsonaeeh@gmail.com
NCT07082543 PHASE3
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of GM1 Gangliosidosis or GM2 Gangliosidosis
Azafaros B.V. n=75 UCSF Children's Hospital and Research Center at Oakland Oakland, California
Intervention DRUG: AZ-3102 — Nizubaglustat
Eligibility Ages 4 Years
Contact Patient Advocacy Representative · Please reach out by email · info@azafaros.com
NCT06966635 PHASE4
Exploratory Study on the Treatment of Gout With Potassium Citrate Sustained-release Tablets
Huashan Hospital n=312 Huashan hospital, Fudan university Shanghai
Intervention DRUG: Sodium Bicarbonate Oral Capsule — On the basis of the standard uric acid-lowering treatment plan, sodium bicarbonate should be taken three times a day, 1....
Eligibility Ages 18 Years – 70 Years
Contact Yu Miao · 021-17857540080 · my20000109@126.com
Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up
IRCCS Azienda Ospedaliero-Universitaria di Bologna n=180 IRCCS Azienda Ospedaliero-Universitaria di Bologna Bologna, Bologna
Eligibility Ages 36 Months
Contact Rita Ortolano, MD · 00390512144816 · rita.ortolano@aosp.bo.it