AAV Gene Therapy Study for Subjects with PKU

NCT04480567 | Active Not Recruiting Phase 1 DMC FDA Drug

• 1 other identifier: 307-201
• Study Type: interventional
• Target: 100
• Locations: 2 countries
• Sites: 3

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.

Conditions

Phenylketonuria (PKU)

Keywords

PKU; PAH Deficiency

Outcome Measures

Primary Outcomes (1)

• Change from baseline in mean Plasma Phe levels

  baseline, week 12

Secondary Outcomes (3)

• Change from baseline in mean Plasma Phe levels

  baseline, week 96

• Change from baseline in dietary protein intake from intact food

  baseline, week 96

• Number of participants with treatment-emergent adverse event

  At 5 years

Study Arms (3)

Dose 1 of BMN 307

EXPERIMENTAL

Drug: BMN 307

Dose 2 of BMN 307

EXPERIMENTAL

Drug: BMN 307

Dose 3 of BMN 307

EXPERIMENTAL

Drug: BMN 307

Interventions

BMN 307 DRUG

AAV Gene Therapy Infusion

Dose 1 of BMN 307; Dose 2 of BMN 307; Dose 3 of BMN 307

Eligibility Criteria

• Age: 15 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• BioMarin Pharmaceutical: lead

Study Sites (3)

University of South Florida

Tampa, Florida, 33606, United States

Location

Morristown Medical Center

Morristown, New Jersey, 07960, United States

Location

University Hospital Birmingham NHS Foundation Trust

Birmingham, B15 2TH, United Kingdom

Location

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Medical Director, MD

  BioMarin Pharmaceutical

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SEQUENTIAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 8, 2020
• First Posted: July 21, 2020
• Study Start: September 24, 2020
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: December 12, 2024

Record last verified: 2024-12

Locations

GB (1); US (2)