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Trial record 1 of 9 for:    gene therapy | PKU
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AAV Gene Therapy Study for Subjects With PKU

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT04480567
Recruitment Status : Active, not recruiting
First Posted : July 21, 2020
Last Update Posted : October 7, 2021
Information provided by (Responsible Party):
BioMarin Pharmaceutical

Brief Summary:
This is a Phase 1/2, open-label, dose escalation study to evaluate the safety, efficacy and tolerability of BMN 307 in adult PKU subjects with PAH deficiency. Participants will receive a single administration of BMN 307 and will be followed for safety and efficacy.

Condition or disease Intervention/treatment Phase
Phenylketonuria (PKU) Drug: BMN 307 Phase 1 Phase 2

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 100 participants
Allocation: Non-Randomized
Intervention Model: Sequential Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Phase 1/2 Open-Label, Dose Escalation Study to Determine the Safety and Efficacy of BMN 307, an Adeno-Associated Virus Vector-Mediated Gene Transfer of Human Phenylalanine Hydroxylase in Subjects With Phenylketonuria
Actual Study Start Date : September 24, 2020
Estimated Primary Completion Date : December 2027
Estimated Study Completion Date : December 2027

Arm Intervention/treatment
Experimental: Dose 1 of BMN 307 Drug: BMN 307
AAV Gene Therapy Infusion

Experimental: Dose 2 of BMN 307 Drug: BMN 307
AAV Gene Therapy Infusion

Experimental: Dose 3 of BMN 307 Drug: BMN 307
AAV Gene Therapy Infusion

Primary Outcome Measures :
  1. Change from baseline in mean Plasma Phe levels [ Time Frame: baseline, week 12 ]

Secondary Outcome Measures :
  1. Change from baseline in mean Plasma Phe levels [ Time Frame: baseline, week 96 ]
  2. Change from baseline in dietary protein intake from intact food [ Time Frame: baseline, week 96 ]
  3. Number of participants with treatment-emergent adverse event [ Time Frame: At 5 years ]

Information from the National Library of Medicine

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Ages Eligible for Study:   15 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Male and female subjects with diagnosis of PKU which is a condition characterized by PAH deficiency
  • Ability and willingness to maintain dietary protein intake consistent with baseline intake
  • Willingness to abstain from hepatotoxic substances post-BMN 307 administration
  • Willingness and capable per investigator opinion to comply with study procedures and requirements
  • Willingness to use effective methods of contraception
  • Plasma Phe levels > 600 µmol/L

Exclusion Criteria:

  • Subjects with primary BH4 deficiency or other forms of BH4 metabolism deficiency
  • Clinically significant liver dysfunction or disease
  • Prior treatment with gene therapy
  • Any condition that, in the opinion of the investigator or Sponsor, would prevent the subject from fully complying with the requirements of the study
  • History of malignancy

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04480567

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United States, Florida
University of South Florida
Tampa, Florida, United States, 33606
United States, New Jersey
Morristown Medical Center
Morristown, New Jersey, United States, 07960
United States, Texas
University of Texas Health Science Center - Houston
Houston, Texas, United States, 77030
United Kingdom
University Hospital Birmingham NHS Foundation Trust
Birmingham, United Kingdom, B15 2TH
Sponsors and Collaborators
BioMarin Pharmaceutical
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Study Director: Medical Director, MD BioMarin Pharmaceutical
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Responsible Party: BioMarin Pharmaceutical
ClinicalTrials.gov Identifier: NCT04480567    
Other Study ID Numbers: 307-201
First Posted: July 21, 2020    Key Record Dates
Last Update Posted: October 7, 2021
Last Verified: October 2021

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by BioMarin Pharmaceutical:
PAH Deficiency
Additional relevant MeSH terms:
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Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases