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Open-Label Study of mRNA-3927 in Participants With Propionic Acidemia

Phase 1
Recruiting
Conditions
Propionic Acidemia
Interventions
Registration Number
NCT04159103
Lead Sponsor
ModernaTX, Inc.
Brief Summary

This First-in-Human (FIH) Phase 1/2 study is designed to characterize the safety, tolerability, and pharmacological activity (as assessed by biomarker measurements) and to determine the optimal dose of mRNA-3927 in participants with genetically confirmed propionic acidemia (PA). After establishing a dose with acceptable safety and pharmacodynamic (PD) response in a Dose Optimization Group (Part 1) in participants ≥1 year of age, additional participants will be enrolled into the study in a Dose Expansion Group (Part 2) to allow for further characterization of the efficacy, safety, and PD of mRNA-3927. Part 3 will evaluate the safety, efficacy and PD response of mRNA-3927 in infants (\<1 year of age).

Detailed Description

During the Dose Optimization Stage, after each dose cohort is fully enrolled (≥1 year of age), , and the dose-limiting toxicity (DLT) observation window of at least 14 days is complete for the final participant in that cohort, the Sponsor will review the totality of available safety data in conjunction with all available PK/PD data. Based on this review, the Sponsor will recommend a revised dose and/or dosing interval. The Sponsor will abide by predefined constraints as to the maximum percentage change in dose and dose interval. A maximum of 9 cohorts will be enrolled in Part 1 (Dose Optimization).

Upon establishment of a dose with acceptable safety and PD activity in a Dose Optimization Part (Part 1), additional participants (≥1 year of age) will be enrolled into the study in a Dose Expansion Part (Part 2) to allow for further characterization of the safety, efficacy, and PD of mRNA-3927. Part 3 will evaluate the safety, efficacy and PD response in infants (\<1 year of age).

Participants in all the phases will participate in a predosing observational period, followed by a treatment period, and then a follow-up period after withdrawal of treatment.

Recruitment & Eligibility

Status
RECRUITING
Sex
All
Target Recruitment
68
Inclusion Criteria

Participants ≥1 year of age are eligible to be included in the study only if all of the following criteria apply:

  • ≥ 8 years of age at the time of consent/assent if enrolled as 1 of the first 2 participants in Part 1.
  • ≥1 year of age at the time of consent/assent if enrolled after the first 2 participants.
  • Confirmed diagnosis of PA based on diagnosis by molecular genetic testing (PCCA and/or PCCB mutations).
  • Part 2 only: At least one documented MDE in the 12-month period before consent.

Participants <1 Year of Age :

  • Identification by newborn screening shortly after birth or having suspected PA by presenting with a spectrum of metabolic symptoms, and having a sibling diagnosed with PA. Participant may enter the Screening Period while awaiting genetic testing results, provided that all other eligibility criteria are met but would not be enrolled until diagnosis of PA is confirmed.

  • ≥37 weeks gestational age at the time of birth without other conditions/comorbidities that in the opinion of the Investigator may interfere with the interpretation of study results.

  • Body weight ≥3 kg at Screening.

  • At least 1 documented PA-related event prior to Screening defined as the following criteria:

    • Clinical signs of metabolic deterioration consistent with PA (eg, vomiting, not feeding well/poor suck, heavy breathing, lethargy, absence of proper perfusion, abnormal movements including bicycling, abnormal tone, low body temperature, seizure[s]), OR
    • Meeting the criteria of MDE definition, OR
    • Evidence of laboratory abnormalities as evidenced by at least one of the following:
  • Metabolic acidosis (decreased pH) with high anion gap, or compensated metabolic acidosis (reduced bicarbonate, or base deficit, or reduced PaCO2 or increased lactate) with high anion gap.

  • Acute hyperammonemia.

  • Neutropenia or thrombocytopenia.

Exclusion Criteria

Participants of all ages are excluded from the study if during Screening any of the following criteria apply:

  • Any individual with laboratory abnormalities achieving theresholds defined in the protocol
  • Estimated glomerular filtration rate (eGFR) <30 milliliters (mL)/minute/1.73 square meter (m^2) for participants of all ages receiving chronic dialysis.
  • History of organ transplantation or planned organ transplantation during the period of study participation.
  • Corrected QT interval (QTc) >480 milliseconds (ms) using Bazett's correction.
  • Grade 3 or 4 heart failure according to the Modified Ross Heart Failure Classification for Children or the New York Heart Association Classification.
  • Pregnant or breastfeeding.
  • Other clinically significant conditions that in the Investigator's opinion could interfere with the safety of the participant, the interpretation of study results, or limit the participation in the study.

Study & Design

Study Type
INTERVENTIONAL
Study Design
SEQUENTIAL
Arm && Interventions
GroupInterventionDescription
Part 1 (Dose Optimization), Part 2 (Dose Expansion), and Part 3 (Infants)mRNA-3927Part 1 (Dose Optimization): Participants (≥1 year of age) will receive single dose of mRNA-3927 by intravenous (IV) infusion every 2 weeks (Q2W) or every 3 weeks (Q3W) for up to 10 doses. Part 2 (Dose Expansion): Participants (≥1 year of age) will receive single dose of mRNA-3927 (identified during Dose Optimization Phase) by IV infusion Q2W for up to 12 months. Part 3: Participants (\<1 year of age) will receive single dose of mRNA-3927 (identified during Dose Optimization Phase) by IV infusion Q2W for up to 12 months.
Primary Outcome Measures
NameTimeMethod
Part 1: Number of Participants with an Adverse Event (AE), Serious AE (SAE) and AE Leading to DiscontinuationDay 1 (initial mRNA-3927 dose) up to Week 150 (End of Study)
Part 3: Number of Participants with Treatment- emergent Adverse Event (TEAEs), SAEs, AEs of Special Interest and TEAEs Leading to DiscontinuationDay 1 up to Week 82
Part 2: Number of Metabolic Decompensation Events (MDEs)Day 1 up to Week 53
Secondary Outcome Measures
NameTimeMethod
Part 1: Area Under the Effect Versus Time Curve (AUEC) of 2-MC and 3-HP after Single and Repeated Administrations of mRNA-3927Baseline up to Week 40

Baseline (predose levels) to postdose levels measured after single and after repeated administrations of mRNA-3927

Part 1: Duration of Response (DOR) after Single and Repeated Administrations of mRNA-3927Baseline up to Week 40

Baseline (predose levels) to postdose levels measured after single and after repeated administrations of mRNA-3927

Part 1: Frequency of Anti-Polyethylene Glycol AntibodiesDay 1 (initial mRNA-3927 dose) up to Week 150 (End of Study)
Part 2: Number of PA-related HospitalizationsDay 1 up to Week 53
Part 1: SM-86 Concentration after Single and Repeated Administrations of mRNA-3927Day 1 through Day 8

Baseline (predose levels) to postdose levels measured after single and after repeated administrations of mRNA-3927

Part 1: Change From Baseline in Plasma 2-Methylcitrate (2-MC) and 3-Hydroxypropionic Acid (3-HP) Levels After Single and Repeated Administrations of mRNA-3927Baseline up to Week 40

Baseline (predose levels) to postdose levels measured after single and after repeated administrations of mRNA-3927

Part 1: Maximum Observed Effect (Emax) of 2-MC and 3-HP after Single and Repeated Administrations of mRNA-3927Baseline up to Week 40

Baseline (predose levels) to postdose levels measured after single and after repeated administrations of mRNA-3927

Part 1: Maximum Observed Concentration (Cmax) of Propionyl-CoA Carboxylase Subunit α (PCCA) and Propionyl-CoA Carboxylase Subunit β (PCCB) mRNAsDay 1 through Day 22

Baseline (predose levels) to postdose levels measured after single and after repeated administrations of mRNA-3927

Part 1: Time of Cmax (Tmax) of PCCA and PCCB mRNAsDay 1 through Day 22

Baseline (predose levels) to postdose levels measured after single and after repeated administrations of mRNA-3927

Part 1: Area Under the Plasma Concentration-Time Curve (AUC) of PCCA and PCCB mRNAsDay 1 through Day 22

Baseline (predose levels) to postdose levels measured after single and after repeated administrations of mRNA-3927

Part 2: Change from Baseline in Pediatric Quality of Life Inventory (PedsQL) Physical Function ScoreBaseline, Week 53
Part 2: Change from Baseline in Methylmalonic Acidemia and Propionic Acidemia Questionnaire - Proximal Signs and Symptoms (MMAPAQ-PSS) Total ScoreBaseline, Week 53
Part 3: Change from Baseline in PedsQL Physical Function ScoreBaseline, Week 53
Part 3: Change from Baseline in MMAPAQ-PSS Total ScoreBaseline, Week 53
Part 3: Number of PA-related HospitalizationsDay 1 up to Week 53
Part 3: Number of MDEsDay 1 up to Week 53

Trial Locations

Locations (17)

Fujita Health University Hospital

🇯🇵

Toyoake-shi, Aichi, Japan

Tohoku University Hospital

🇯🇵

Sendai-Shi, Miyagi, Japan

Ronald Reagan UCLA Medical Center

🇺🇸

Los Angeles, California, United States

Lucile Packard Children's Hospital Stanford

🇺🇸

Stanford, California, United States

Johns Hopkins Hospital, Adult Outpatient Clinical Research Unit

🇺🇸

Baltimore, Maryland, United States

Boston Children's Hospital

🇺🇸

Boston, Massachusetts, United States

University of Michigan Hospitals

🇺🇸

Ann Arbor, Michigan, United States

Icahn School of Medicine at Mount Sinai - Clinical Research Unit

🇺🇸

New York, New York, United States

Duke University Medical System (Duke Health)

🇺🇸

Durham, North Carolina, United States

Cincinnati Children's Hospital Medical Center

🇺🇸

Cincinnati, Ohio, United States

Children's Hospital of Philadelphia (CHOP)

🇺🇸

Philadelphia, Pennsylvania, United States

Texas Children's Hospital

🇺🇸

Houston, Texas, United States

Stollery Children's Hospital University of Alberta

🇨🇦

Edmonton, Alberta, Canada

Hospital For Sick Children

🇨🇦

Toronto, Ontario, Canada

University Hospital Birmingham NHS Foundation Trust

🇬🇧

Birmingham, United Kingdom

Great Ormond Street Hospital for Children NHS Foundation Trust

🇬🇧

London, United Kingdom

Manchester University NHS Foundation Trust

🇬🇧

Manchester, United Kingdom

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