NCT03810690

Brief Summary

This First-in-Human (FIH) Phase 1/2 study will evaluate mRNA-3704 in patients with methylmalonic acidemia/aciduria (MMA) due to methylmalonyl-coenzyme A mutase (MUT) deficiency between 1 to 18 years of age with elevated plasma methylmalonic acid. The study is designed to characterize baseline biomarker levels followed by assessment of safety, pharmacokinetics, and pharmacodynamics of different doses of mRNA-3704 in patients affected by MMA as part of the Dose Escalation phase. During the Dose Escalation phase, three dose levels of mRNA-3704 are planned to be investigated in this study among patients with MMA due to MUT deficiency: low dose, mid dose, and high dose. An additional cohort to evaluate a fourth dose level may be considered jointly by the independent SMC and the Sponsor. Upon establishment of a dose with acceptable safety and pharmacodynamic activity, additional patients will be enrolled in a Dose Expansion phase to allow for further characterization of the safety and pharmacodynamics of mRNA-3704. Patients in both phases of study will participate in a pre-dosing observational period, followed by a treatment period, and then a follow-up period after withdrawal of treatment.

Trial Health

15
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Timeline
Completed

Started May 2019

Status
withdrawn

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

January 14, 2019

Completed
8 days until next milestone

First Posted

Study publicly available on registry

January 22, 2019

Completed
4 months until next milestone

Study Start

First participant enrolled

May 28, 2019

Completed
1.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 18, 2020

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

August 18, 2020

Completed
Last Updated

November 13, 2020

Status Verified

November 1, 2020

Enrollment Period

1.2 years

First QC Date

January 14, 2019

Last Update Submit

November 10, 2020

Conditions

Outcome Measures

Primary Outcomes (2)

  • Incidence of treatment-emergent adverse events

    Day 1 (initial mRNA-3704 dose) through 52 weeks after final mRNA-3704 dose

  • Change in plasma methylmalonic acid levels

    Baseline (pre-dose levels) to post-dose levels measured after single and after repeated administrations of mRNA-3704

    Week -4 through 36 weeks after initial mRNA-3704 dose

Secondary Outcomes (5)

  • Maximum observed concentration (Cmax) after administration of mRNA-3704

    Baseline through 36 weeks after initial mRNA-3704 dose

  • Time of Cmax (Tmax)

    Baseline through 36 weeks after initial mRNA-3704 dose

  • Area under the plasma concentration-time curve (AUC)

    Baseline through 36 weeks after initial mRNA-3704 dose

  • Change in plasma 2-methylcitrate levels

    Week -4 through 36 weeks after initial mRNA-3704 dose

  • Measurement of anti-PEG antibodies

    Pre-dose through up to 52 weeks after final mRNA-3704 dose

Study Arms (5)

Dose Escalation Phase: Dose Level 1

EXPERIMENTAL

mRNA-3704

Biological: mRNA-3704

Dose Escalation Phase: Dose Level 2

EXPERIMENTAL

mRNA-3704

Biological: mRNA-3704

Dose Escalation Phase: Dose Level 3

EXPERIMENTAL

mRNA-3704

Biological: mRNA-3704

Dose Escalation Phase: Dose Level 4 (optional)

EXPERIMENTAL

mRNA-3704

Biological: mRNA-3704

Dose Expansion Phase: mRNA-3704

EXPERIMENTAL
Biological: mRNA-3704

Interventions

mRNA-3704BIOLOGICAL

mRNA-3704 dispersion for intravenous (IV) infusion

Dose Escalation Phase: Dose Level 1Dose Escalation Phase: Dose Level 2Dose Escalation Phase: Dose Level 3Dose Escalation Phase: Dose Level 4 (optional)Dose Expansion Phase: mRNA-3704

Eligibility Criteria

Age1 Year+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • Patients are eligible to be included in the study only if all of the following criteria apply:
  • Confirmed diagnosis of isolated MMA due to MUT deficiency based on the following criteria:
  • Elevated plasma methylmalonic acid concentrations (≥ 100 µmol/L)
  • Presence of normal serum/plasma Vitamin B12 and plasma homocysteine levels
  • Confirmed diagnosis by molecular genetic testing

You may not qualify if:

  • Patients are excluded from the study if any of the following criteria apply:
  • Diagnosis of isolated MMA cblA, cblB, or cblD enzymatic subtypes or methylmalonyl-CoA epimerase deficiency or combined MMA with homocystinuria
  • History of organ transplantation
  • Previously received gene therapy for the treatment of MMA.
  • Estimated glomerular filtration rate (GFR) \< 30 mL/min/1.73 m2; or patients who receive chronic dialysis

Contact the study team to confirm eligibility.

Sponsors & Collaborators

MeSH Terms

Conditions

Methylmalonic acidemiaMetabolism, Inborn Errors

Condition Hierarchy (Ancestors)

Genetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases
0

Study Design

Study Type
interventional
Phase
phase 1
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
TREATMENT
Intervention Model
SEQUENTIAL
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 14, 2019

First Posted

January 22, 2019

Study Start

May 28, 2019

Primary Completion

August 18, 2020

Study Completion

August 18, 2020

Last Updated

November 13, 2020

Record last verified: 2020-11

Data Sharing

IPD Sharing
Will not share