Assessing a single dose of BMN 349 in adults with Alpha 1-Antitrypsin Deficiency

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)

Phase 1 Interventional BioMarin Pharmaceutical · NCT06738017

This study is testing a single dose of a new drug called BMN 349 to see if it's safe for adults with Alpha 1-Antitrypsin Deficiency.

Quick facts

PhasePhase 1
Study typeInterventional
Enrollment12 (estimated)
Ages18 Years to 70 Years
SexAll
SponsorBioMarin Pharmaceutical Industry-sponsored
Locations6 sites (San Diego, California and 5 other locations)
Trial IDNCT06738017 on ClinicalTrials.gov

What this trial studies

This clinical trial evaluates the safety and tolerability of a single oral dose of BMN 349 in adult participants with PiZZ or PiMZ/MASH genotypes. Participants will receive either BMN 349 or a placebo and will be monitored for any adverse events, laboratory test abnormalities, lung function test changes, and ECG parameters. The study aims to gather data on the drug's safety profile in this specific patient population.

Who should consider this trial

Good fit: Ideal candidates are adults aged 18 to 70 with confirmed PiZZ or PiMZ genotypes who are nonsmokers.

Not a fit: Patients with recent pneumonia or those currently using AAT augmentation therapy may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide a new treatment option for patients with Alpha 1-Antitrypsin Deficiency.

How similar studies have performed: While this approach is novel for BMN 349, other studies have explored treatments for Alpha 1-Antitrypsin Deficiency with varying degrees of success.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Participants must have confirmation of PiZZ or PiMZ genotype
* Females and males, of any race, 18 to 70 years of age
* Nonsmokers, defined as not using tobacco or nicotine-containing products for at least 6 months prior to Screening

Exclusion Criteria:

* 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

Where this trial is running

San Diego, California and 5 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Alpha 1-Antitrypsin Deficiency349349-102AATDMASHPiZZPiMZ
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.