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Active, Not Recruiting

NCT Number: NCT06738017

Study of BMN 349 Single Dose in PiZZ and PiMZ/MASH Adult Participants

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Alpha 1-Antitrypsin Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Emphysema Genetic Diseases, Inborn Liver Diseases Lung Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Respiratory Tract Diseases Subcutaneous Emphysema

Age range

18 year–75 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1

Primary location

NHS Lothian, Edinburgh, UK, 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

  • 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

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

Treatment and study plan

BMN 349

Drug

250mg oral tablet

Placebo

Drug

250mg oral tablet

Primary outcomes

  1. 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

Secondary outcomes

  1. C max

    Time frame: 78 days

    Maximum observed plasma concentration

  2. AUC 0-t

    Time frame: 78 days

    Area under the concentration-time curve from time 0 to the last measurable concentration

  3. AUC 0-inf

    Time frame: 78 days

    Area under the concentration-time curve from time 0 to infinity

  4. CL/F

    Time frame: 78 days

    Apparent total body clearance after oral dosing

  5. T max

    Time frame: 78 days

    Time to reach maximum concentration

  6. t 1/2

    Time frame: 78 days

    Terminal half-life in plasma

  7. Vz/F

    Time frame: 78 days

    Apparent volume of distribution during terminal phase

  8. Assess functional activity of circulating Alpha1 AntiTrypsin in participants

    Time frame: 78 days

    Changes in participant circulating AAT through whole blood samples following a single dose of BMN 349

Sponsors and collaborators

Lead sponsor

BioMarin Pharmaceutical

Industry

Registry information

Official study 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)

Important dates

Study start
2025
Primary completion
2026
Study completion
2026
First posted
Dec 17, 2024
Registry last updated
May 6, 2026

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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