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Active, Not Recruiting

NCT Number: NCT04480567

AAV Gene Therapy Study for Subjects with PKU

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Phenylketonuria (PKU) Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Phenylketonurias

Age range

15 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1 / Phase 2

Primary location

University Hospital Birmingham NHS Foundation Trust, Birmingham, United Kingdom

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

BMN 307

Drug

AAV Gene Therapy Infusion

Primary outcomes

  1. Change from baseline in mean Plasma Phe levels

    Time frame: baseline, week 12

Secondary outcomes

  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

Sponsors and collaborators

Lead sponsor

BioMarin Pharmaceutical

Industry

Registry information

Official study 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

Important dates

Study start
2020
Primary completion
2027
Study completion
2027
First posted
Jul 21, 2020
Registry last updated
Dec 12, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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