Alpha 1-Antitrypsin DeficiencyPhase 1NCT06738017
Study of BMN 349 Single Dose in PiZZ and PiMZ/MASH Adult Participants
A Phase 1 study testing BMN 349 in people with Alpha 1-Antitrypsin Deficiency, run by BioMarin Pharmaceutical at 7 sites in 2 countries.
Trial summary
The goal of this clinical trial is to assess the safety and tolerability of a single oral dose of BMN 349 in participants with PiZZ or PiMZ/MASH. Primary outcome measures include incidence of any adverse events (including serious adverse events, dose limit toxicities, and adverse events of special interest), incidence… Read more about this study
- Who is it for?
- Ages 18 to 75 years
- Conditions the study is for
- Alpha 1-Antitrypsin Deficiency
- What is being tested?
- BMN 349
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 6 participants
- Where
- 7 sitesin 2 countries
- Study dates
- 21 Feb 2025to 19 Aug 2026
- Phase
- Phase 1
- 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 18 to 75 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Participants must have confirmation of PiZZ or PiMZ genotype
- Females and males, of any race, 18 to 75 years of age
- Nonsmokers, defined as not using tobacco or nicotine-containing products for at least 6 months prior to Screening
Who cannot join
- International normalized ratio (INR) > 1.2
- Alanine aminotransferase (ALT) and aspartate aminotransferase (AST) levels > 125 U/L
- Current or recent use of AAT augmentation therapy
- Participants with recent (last 3 months) diagnosis of pneumonia
Trial locations and contacts
7 sites in 2 countries.
7 sites in 2 countries
United States4 sites
The Medical University of South Carolina
Charleston, South Carolina, 29425
Medpace Clinical Pharmacology Unit
Cincinnati, Ohio, 45227
University of California, San Diego
San Diego, California, 92037
Saint Louis University
St Louis, Missouri, 63110
United Kingdom3 sites
NHS Lothian
Edinburgh, UK
Royal Free London NHS Foundation Trust
London, UK
University Hospital Southampton NHS Foundation Trust
Southampton, UK
About this study
Official title: A Randomized, Double-Blind, Placebo-Controlled, Single Oral Dose Study Evaluating the Safety and Pharmacokinetics of BMN 349 in Homozygous for the Z Mutation of Alpha 1 Antitrypsin Gene (PiZZ) and Heterozygous for the Z Mutation (PiMZ/MASH)
The goal of this clinical trial is to assess the safety and tolerability of a single oral dose of BMN 349 in participants with PiZZ or PiMZ/MASH.
Primary outcome measures include incidence of any adverse events (including serious adverse events, dose limit toxicities, and adverse events of special interest), incidence of any laboratory test abnormalities, incidence of lung function test abnormalities and 12-lead ECG parameters.
Participants will receive a single dose of either BMN 349 or placebo and then monitored for safety and tolerability.
- Conditions
- Alpha 1-Antitrypsin Deficiency
- Being tested
- BMN 349, Placebo
- Keywords
- 349, 349-102, AATD, MASH, PiZZ, PiMZ
- Medical subject headings
- alpha 1-Antitrypsin Deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
BMN 349Drug
250mg oral tablet
PlaceboDrug
250mg oral tablet
| Study group | Role | What they receive |
|---|---|---|
| Group A (PiZZ) | Other | 5:1 (349:Placebo) Receives: Drug: BMN 349; Drug: Placebo |
| Group B (PiMZ) | Other | 5:1 (349:Placebo) Receives: Drug: BMN 349; Drug: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
Participant Adverse Events, Serious Adverse Events, Dose Limit Toxicities, Adverse Event of Special Interests, abnormal laboratory tests, abnormal pulmonary function tests, and 12-lead ECG parameters
Number of participant AEs, SAEs, DLTs, AESIs per physician's assessment, abnormal laboratory tests through whole blood samples, abnormal pulmonary function spirometry tests, and 12-lead ECG parameters changes from baseline following a single oral dose of BMN 349
Measured: 78 days
Secondary outcomes (8)
C max
Maximum observed plasma concentration
Measured: 78 days
AUC 0-t
Area under the concentration-time curve from time 0 to the last measurable concentration
Measured: 78 days
AUC 0-inf
Area under the concentration-time curve from time 0 to infinity
Measured: 78 days
CL/F
Apparent total body clearance after oral dosing
Measured: 78 days
T max
Time to reach maximum concentration
Measured: 78 days
t 1/2
Terminal half-life in plasma
Measured: 78 days
Vz/F
Apparent volume of distribution during terminal phase
Measured: 78 days
Assess functional activity of circulating Alpha1 AntiTrypsin in participants
Changes in participant circulating AAT through whole blood samples following a single dose of BMN 349
Measured: 78 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Dec 2024
- Study start21 Feb 2025
- Primary completion19 Aug 2026 (estimated)
- Study completion19 Aug 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Alpha 1-Antitrypsin DeficiencyStudies 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
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Triple blind
- Who is masked
- Participant, Care provider, Investigator
- Enrolment
- 6 participants (actual)
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
- NCT06738017
- Sponsor's protocol ID
- 349-102
- Status last verified
- May 2026
- First submitted
- 27 Nov 2024
- Last updated
- 6 May 2026
- Results posted
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Randomized, Double-Blind, Placebo-Controlled, Single Oral Dose Study Evaluating the Safety and Pharmacokinetics of BMN 349 in Homozygous for the Z Mutation of Alpha 1 Antitrypsin Gene (PiZZ) and Heterozygous for the Z Mutation (PiMZ/MASH)
- ClinicalTrials.gov ID
- NCT06738017
- Acronym / sponsor ID
- 349-102
- Conditions
- Alpha 1-Antitrypsin Deficiency
- Keywords
- 349, 349-102, AATD, MASH, PiZZ, PiMZ
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 6 participants (actual)
- Lead sponsor
- BioMarin PharmaceuticalIndustry (pharma, biotech, devices)
- Study start
- 21 Feb 2025 (actual)
- Primary completion
- 19 Aug 2026 (estimated)
- Study completion
- 19 Aug 2026 (estimated)
- First posted
- 17 Dec 2024 (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.
The goal of this clinical trial is to assess the safety and tolerability of a single oral dose of BMN 349 in participants with PiZZ or PiMZ/MASH.
Primary outcome measures include incidence of any adverse events (including serious adverse events, dose limit toxicities, and adverse events of special interest), incidence of any laboratory test abnormalities, incidence of lung function test abnormalities and 12-lead ECG parameters.
Participants will receive a single dose of either BMN 349 or placebo and then monitored for safety and tolerability.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Triple blind (participant, care provider, investigator)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Group A (PiZZ) | Other | Drug: BMN 349, Drug: Placebo5:1 (349:Placebo) |
| Group B (PiMZ) | Other | Drug: BMN 349, Drug: Placebo5:1 (349:Placebo) |
Who may qualify
- Ages
- 18 to 75 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- Participants must have confirmation of PiZZ or PiMZ genotype
- Females and males, of any race, 18 to 75 years of age
- Nonsmokers, defined as not using tobacco or nicotine-containing products for at least 6 months prior to Screening
Key exclusion criteria (4 listed)
- International normalized ratio (INR) > 1.2
- Alanine aminotransferase (ALT) and aspartate aminotransferase (AST) levels > 125 U/L
- Current or recent use of AAT augmentation therapy
- Participants with recent (last 3 months) diagnosis of pneumonia
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 349250mg oral tablet | Drug | Group A (PiZZ), Group B (PiMZ) |
| Placebo250mg oral tablet | Drug | Group A (PiZZ), Group B (PiMZ) |
Primary outcome
Participant Adverse Events, Serious Adverse Events, Dose Limit Toxicities, Adverse Event of Special Interests, abnormal laboratory tests, abnormal pulmonary function tests, and 12-lead ECG parameters
Time frame: 78 days
Number of participant AEs, SAEs, DLTs, AESIs per physician's assessment, abnormal laboratory tests through whole blood samples, abnormal pulmonary function spirometry tests, and 12-lead ECG parameters changes from baseline following a single oral dose of BMN 349
8 secondary outcomes
C max
Time frame: 78 days
AUC 0-t
Time frame: 78 days
AUC 0-inf
Time frame: 78 days
CL/F
Time frame: 78 days
T max
Time frame: 78 days
t 1/2
Time frame: 78 days
Vz/F
Time frame: 78 days
Assess functional activity of circulating Alpha1 AntiTrypsin in participants
Time frame: 78 days
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 6 May 2026.
- Individual participant dataSharing planned: No
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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
7 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing BMN 349 in people with Alpha 1-Antitrypsin Deficiency, run by BioMarin Pharmaceutical at 7 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 3 inclusion and 4 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 6 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 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 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.
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?
Participant Adverse Events, Serious Adverse Events, Dose Limit Toxicities, Adverse Event of Special Interests, abnormal laboratory tests, abnormal pulmonary function tests, and 12-lead ECG parameters (time frame: 78 days). 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 6 May 2026.