Related Experiment Video

Updated: Jan 22, 2026

Evaluation of the Efficacy And Toxicity of RNAs Targeting HIV-1 Production for Use in Gene or Drug Therapy
12:03

Evaluation of the Efficacy And Toxicity of RNAs Targeting HIV-1 Production for Use in Gene or Drug Therapy

Published on: September 5, 2016

8.2K

Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene

Linda P Lowes1, Lindsay N Alfano2, W David Arnold3

  • 1Center for Gene Therapy at the Research Institute at Nationwide Children's Hospital, Columbus, Ohio; Department of Pediatrics, Ohio State University, Columbus, Ohio.

Pediatric Neurology
|July 7, 2019
PubMed

Insights

Early gene replacement therapy with AVXS-101 (onasemnogene abeparvovec) significantly improved motor function in infants with spinal muscular atrophy type 1 (SMA1). These findings support newborn screening and prompt treatment for better outcomes.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Spinal muscular atrophy type 1 (SMA1) is a severe genetic neuromuscular disorder.
  • Gene replacement therapy using AVXS-101 (onasemnogene abeparvovec) is being investigated for SMA1.
  • Early intervention is crucial for managing neurodegenerative conditions in infants.

Purpose of the Study:

  • To characterize motor function responses in infants with SMA1 following early administration of AVXS-101.
  • To evaluate the impact of age at dosing and baseline motor function on treatment outcomes.
  • To assess the therapeutic potential of onasemnogene abeparvovec in severe SMA1.

Main Methods:

  • Follow-up analysis of 12 infants with SMA1 treated with AVXS-101 in a Phase 1 study.
  • Infants were categorized into three groups based on age at dosing and baseline motor scores (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders).
  • Groups included: early dosing/low motor (<3 months, <20 score), late dosing (≥3 months), and early dosing/high motor (<3 months, ≥20 score).

Main Results:

  • The early dosing/low motor group showed a mean motor score gain of 35.0 points.
  • The early dosing/high motor group achieved a mean score of 60.3, nearing the scale maximum.
  • Infants in the early dosing/low motor group achieved unassisted sitting earlier than the late dosing group (17.0 vs 22.0 months).

Conclusions:

  • Early AVXS-101 treatment leads to rapid and significant motor improvements in infants with severe SMA1.
  • Treatment efficacy is demonstrated regardless of baseline motor function.
  • Findings underscore the importance of newborn screening and early intervention for SMA1.
Abstract

Keywords:
AVXS-101CHOP-INTENDGene replacement therapyOnasemnogene abeparvovecSpinal muscular atrophy

More Related Videos

Quantified Assessment of Infant's Gross Motor Abilities Using a Multisensor Wearable09:24

Quantified Assessment of Infant's Gross Motor Abilities Using a Multisensor Wearable

Published on: May 17, 2024

2.1K
A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-1906:46

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19

Published on: July 5, 2022

3.2K

Related Concept Videos

Drug Dosing: Infants and Children01:29

Drug Dosing: Infants and Children

Pediatric patient dosages diverge from adults due to disparities in body surface area, total body water, and extracellular fluid per kilogram of body weight. The dosing regimen considers the variations in pharmacokinetics and pharmacology across distinct age groups, encompassing preterm newborns, infants, young children, older children, and adolescents. Calculation of pediatric patient doses is predicated on determining body surface area, which exhibits a superior correlation with the child's...
263
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
27.4K
Bioavailability Study Design: Single Versus Multiple Dose Studies01:11

Bioavailability Study Design: Single Versus Multiple Dose Studies

Bioavailability studies are essential for understanding how a drug is absorbed, distributed, metabolized, and excreted in the body. These studies assess the extent and rate at which the active pharmaceutical agent becomes available at the site of action. The design of bioavailability studies can involve single-dose or multiple-dose regimens, each with distinct advantages and limitations.Single-dose studies are the preferred approach due to their simplicity and reduced drug exposure for...
218
Continuous Renal Replacement Therapy01:30

Continuous Renal Replacement Therapy

Continuous Renal Replacement Therapy, also known as CRRT, is a procedural treatment for acute kidney injury (AKI) that gradually removes uremic toxins and fluids while maintaining acid-base balance and stabilizing electrolytes. It is particularly useful for hemodynamically unstable patients. Unlike intermittent hemodialysis, which is faster, CRRT provides a gentler approach over 24 hours, closely mimicking the function of natural kidneys. However, CRRT is not ideal for patients with...
924
Types of Impact01:30

Types of Impact

Impacts can be classified in various forms, primarily under two subgroups: central impact and oblique impact. A central impact occurs when two objects collide head-on, possessing opposite velocities aligned along the line of impact. Conversely, an oblique impact occurs when two objects collide at an angle, resulting in a modification of both direction and velocity.
The coefficient of restitution is a metric for understanding the dynamics of impacts. It quantifies the ratio of relative velocity...
1.0K
SN1 Reaction: Stereochemistry02:15

SN1 Reaction: Stereochemistry

This lesson provides an in-depth discussion of the stereochemical outcomes in an SN1 reaction.
In the first step of an SN1 reaction, the bond between the electrophilic carbon and the leaving group ionizes to generate the carbocation intermediate. The second step of the mechanism is the nucleophilic attack.
In the formed carbocation, the positively charged carbon is sp2 hybridized with a trigonal planar geometry. As all the three substituents lie on the same plane, a plane of symmetry for the...
10.2K