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Phase 2 N=13 Treatment

An Open Label Study of LMI070 (Branaplam) in Type 1 Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy

Enrolled (actual)
13
Serious AEs
84.2%
Results posted
Apr 2025
Primary outcome: Primary: Number of Participants With Dose Limiting Toxicities (DLT) in Part 1 - Safety Analysis Set (SAS) — 0; 0; 0; 0 Participants

Study Design & Population

Study type
Interventional
Phase
Phase 2
Interventions
branaplam (Drug)
Age
Pediatric · 0+ yrs
Sex
All
Sponsor
Novartis Pharmaceuticals
Primary completion
Dec 2022

Outcome Measures

OutcomeResultp-value
PRIMARY
Number of Participants With Dose Limiting Toxicities (DLT) in Part 1 - Safety Analysis Set (SAS)
0; 0; 0; 0; 0
PRIMARY
Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious Adverse Events and Deaths- SAS
2; 2; 2; 4; 3; 10
SECONDARY
Summary of Plasma Pharmacokinetic (PK) Parameter Area Under the Curve (AUCinf) After a Single Dose - Part 1 - Pharmacokinetics Analysis Set (PAS)
378; 892; 1820; 3310; 3800
SECONDARY
Summary of Plasma Pharmacokinetic (PK) Parameter Area Under the Curve (AUCinf) for All Observation Periods - Part 1 - PAS
413; 761; 1340; 3310; 4210
SECONDARY
Summary of Plasma Pharmacokinetic (PK) Parameter Cmax After a Single Dose - Part 1 - PAS
9.10; 18.6; 55.6; 53.2; 72.4
SECONDARY
Summary of Plasma Pharmacokinetic (PK) Parameter Cmax for All Observation Periods - Part 1 - PAS
8.84; 15.3; 37.8; 69.1; 96.5
SECONDARY
Summary of Plasma Pharmacokinetic (PK) Parameter Area Under the Curve (AUC) After a Single Dose - Part 2 - PAS
1150; 4060
SECONDARY
Summary of Plasma Pharmacokinetic (PK) Parameter Area Under the Curve (AUC) for All Observation Periods - Part 2 - PAS
1020; 3470
SECONDARY
Summary of Plasma Pharmacokinetic (PK) Parameter Cmax for a Single Dose - Part 2 - PAS
22.0; 82.0
SECONDARY
Summary of Plasma Pharmacokinetic (PK) Parameter Cmax for All Observation Periods - Part 2 - PAS
21.7; 77.4
SECONDARY
Change From Baseline in Growth Parameters: Chest Circumference, Head Circumference and Body Length - Full Analysis Set (FAS)
4.68; 5.656; 14.750; 8.582; 5.030; 5.111
SECONDARY
Change From Baseline in Growth Parameter: Body Weight - FAS
2.739; 3.145; 9.546; 4.402
SECONDARY
Change From Baseline in Respiratory Function: Pulse Oximetry - FAS
-0.8; -0.1; -0.7; 0.0
SECONDARY
Change From Baseline in Respiratory Function: Respiratory Rate - FAS
41.3; 40.5; 29.2; 37.2
SECONDARY
Number of Participants With Presence of Paradoxical Breathing - FAS
5; 15; 4; 14
SECONDARY
Change From Baseline in Respiratory Function: Chest Circumference During Quiet Breathing - End of Inspiration and Expiration - FAS
5.964; 8.535; 6.033; 9.147
SECONDARY
Summary of CHOP INTEND Total Score - Parts 1 and 3 and Parts 2 and 3 - FAS
38.1; 43.6; 26.0; 44.7
SECONDARY
Number of Participants Fed Orally or by Feeding Tube for Parts 1 and 3 and Parts 2 and 3 - FAS
3; 18; 0; 0; 0; 2
SECONDARY
Number of Participants and HINE Motor Subscale Milestones (Ability to Sit, Stand or Walk Without Support) - FAS
1; 1; 0; 2; 0; 1
SECONDARY
Summary of Hammersmith Infant Neurologic Examination Section 2 (HINE-2) - FAS
3.3; 4.9; 3.0; 7.7
SECONDARY
Ventilation Use for Parts 1 and 3 and Parts 2 and 3 - FAS
9; 18; 3; 2; 4; 5

Summary

An open-label, multi-part, first-in-human study of oral branaplam in infants with Type 1 spinal muscular atrophy. The purpose of this study was to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD) and efficacy after 13 weeks; and to estimate the Maximum Tolerated Dose (MTD) of orally administered branaplam; and to identify the dose that was safe for long term use as well as that can provide durable efficacy optimal dosing regimen in patients with Type 1 SMA.

Eligibility Criteria

Inclusion Criteria

Common for both Parts 1 and 2:

  • Type 1 SMA, diagnosed clinically, with symptom onset 32 weeks and body weight at birth >2 kg.
  • Must live within 2 hours drive of study center. Clearance should be obtained from the site investigator and sponsor if the patient resides more than 2 hours ground travel from the study center

Specific for Part 1

  • Age at screening between 1 and 7 months
  • Must have or agree to have placement of feeding tube for enteral access via nasogastric (NG), nasojejunal (NJ), percutaneous gastrostomy (PEG), or percutaneous jejunostomy (PEJ) tube for administration of branaplam (for patients in whom branaplam cannot be administered orally ; NG tube may be removed between doses).

Specific for Part 2

  • Age at screening between 30 and 180 days of age
  • Must have or agree to have placement of feeding tube for enteral access via nasogastric (NG), nasojejunal (NJ), percutaneous gastrostomy (PEG), or percutaneous jejunostomy (PEJ) tube for administration of branaplam (for the first administration only and for patients in whom branaplam cannot be administered orally; NG tube may be removed between doses).
  • Minimum CHOP INTEND score of 15 at baseline
  • Must be able to feed orally for all nutritional needs and be greater than the 2nd percentile for weight on the standard growth curves for the country of origin

Exclusion Criteria

Common for both Parts 1 and 2:

  • Neurologic, or neuromuscular conditions other than SMA.
  • Anemia, leukopenia, neutropenia or thrombocytopenia
  • Hepatic dysfunction
  • Age adjusted renal dysfunction
  • Presence of an untreated or inadequately treated active infection requiring systemic antiviral or antimicrobial therapy at any time during the screening period.
  • Presence of an untreated or inadequately treated active infection requiring systemic antiviral or antimicrobial therapy at any time during the screening period.
  • Excluding SMA, any medically unstable condition including cardiomyopathy, hepatic dysfunction, kidney disorder, endocrine disorder, GI disorders, prematurity of 2 per day, or presence of a tracheostomy.

Specific for Part 2

  • Use of nusinersen or gene transfer at any time or other investigational drugs within 14 days.
  • Intractable epilepsy
  • Persistent (in the opinion of the Investigator) hypoxemia (O2 saturation awake <92% or O2 saturation asleep <91%, without ventilation support), or presence of a tracheostomy.
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT02268552). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.

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