Phenylketonuria (PKU)Phase 1/2NCT04480567
AAV Gene Therapy Study for Subjects with PKU
A Phase 1/2 study testing BMN 307 in people with Phenylketonuria (PKU), run by BioMarin Pharmaceutical at 3 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 15 years and older
- Conditions the study is for
- Phenylketonuria (PKU)
- What is being tested?
- BMN 307
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 100 participants
- Where
- 3 sitesin 2 countries
- Study dates
- 24 Sep 2020to Dec 2027
- Phase
- Phase 1/2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 15 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
3 sites in 2 countries.
3 sites in 2 countries
United States2 sites
Morristown Medical Center
Morristown, New Jersey, 07960
University of South Florida
Tampa, Florida, 33606
United Kingdom1 site
University Hospital Birmingham NHS Foundation Trust
Birmingham, B15 2TH
About this study
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
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)
- Being tested
- BMN 307
- Keywords
- PKU, PAH Deficiency
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
BMN 307Drug
AAV Gene Therapy Infusion
| Study group | Role | What they receive |
|---|---|---|
| Dose 1 of BMN 307 | Experimental | Not described Receives: Drug: BMN 307 |
| Dose 2 of BMN 307 | Experimental | Not described Receives: Drug: BMN 307 |
| Dose 3 of BMN 307 | Experimental | Not described Receives: Drug: BMN 307 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change from baseline in mean Plasma Phe levels
Measured: baseline, week 12
Secondary outcomes (3)
Change from baseline in mean Plasma Phe levels
Measured: baseline, week 96
Change from baseline in dietary protein intake from intact food
Measured: baseline, week 96
Number of participants with treatment-emergent adverse event
Measured: At 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jul 2020
- Study start24 Sep 2020
- Primary completionDec 2027 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Phenylketonuria (PKU)Studies of the same condition, open and under way.
- More trials run by BioMarin PharmaceuticalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- BioMarin Pharmaceutical
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, MD, Study director, BioMarin Pharmaceutical
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04480567
- Sponsor's protocol ID
- 307-201
- Status last verified
- Dec 2024
- First submitted
- 8 Jul 2020
- Last updated
- 12 Dec 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT04480567
- Acronym / sponsor ID
- 307-201
- Conditions
- Phenylketonuria (PKU)
- Keywords
- PKU, PAH Deficiency
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- BioMarin PharmaceuticalIndustry (pharma, biotech, devices)
- Study start
- 24 Sep 2020 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 21 Jul 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 15 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| BMN 307AAV Gene Therapy Infusion | Drug | Dose 1 of BMN 307, Dose 2 of BMN 307, Dose 3 of BMN 307 |
Primary outcome
Change from baseline in mean Plasma Phe levels
Time frame: baseline, week 12
3 secondary outcomes
Change from baseline in mean Plasma Phe levels
Time frame: baseline, week 96
Change from baseline in dietary protein intake from intact food
Time frame: baseline, week 96
Number of participants with treatment-emergent adverse event
Time frame: At 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Dec 2024.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Medical Director, MD study director
BioMarin Pharmaceutical
3 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing BMN 307 in people with Phenylketonuria (PKU), run by BioMarin Pharmaceutical at 3 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 12 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change from baseline in mean Plasma Phe levels (time frame: baseline, week 12). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Dec 2024.