Skip to main content
OpenTrials
Enrolling by Invitation

NCT Number: NCT06588803

A Long-term Follow-up Study Evaluating Intravenous Injection of EXG001-307 in Patients With Type 1 SMA

An Open-label, Long-term Follow-Up Study to Evaluate the Safety and Tolerability of Gene Therapy with EXG001-307 in SMA1 patients ,who joined the parent study (EXG001-307-102)

Enrolling by Invitation

Interested in participating?

Request Info

Key information

Conditions

Spinal Muscular Atrophy Central Nervous System Diseases Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases

Age range

1 month and older

Sex eligibility

All sexes

Study type

Observational

Primary location

The Children's Hospital of Fudan University

Shanghai, Shanghai Municipality, China

About this study

This study plans to enroll type 1 SMA patients who have previously received EXG001-307 treatment in the parent trial EXG001-307-102 to observe the long-term safety and efficacy of gene therapy with EXG001-302.

The first year of long-term follow-up will be conducted every 3 months ; In the second year, follow-up visits will be conducted every six months, with telephone follow ups at 15 and 21 months during this period; From 3 to 5 years after gene therapy, follow up by phone every six months and follow on on site once a year.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Previously received treatment with EXG001-307 in trial EXG001-307-102;
  • Parents or guardians understand the research procedure and sign the ICF; Good compliance and willingness to follow research procedures. Voluntarily participate in this clinical trial.

Exclusion criteria

  • Parents or guardians are unwilling or unable to participate in long-term follow-up studies.

Treatment and study plan

No intervention, only for observational studies

Other

No intervention, only for observational studies

Primary outcomes

  1. long-term safety：Assess the types, severity, and incidence of serious adverse events (SAEs) and adverse events of particular concern (AESIs)

    Time frame: 4 years

    Assess the types, severity, and incidence of serious adverse events (SAEs) and adverse events of particular concern (AESIs)

Secondary outcomes

  1. Evaluate the long-term effectiveness of EXG001-307 treatment: assess the achievement of exercise milestones based on the scale

    Time frame: 4 years

    The achievement of new milestones in the third edition of the Berry Infant and Child Development Scale (BSID-III)：

    Doctors need to evaluate whether patients can achieve the following milestones:

    head control：Can children keep their heads upright for at least 3 seconds without support； sitting without assistant：Can children sit up alone for at least 5 seconds without support； standing with assistant：Can children use chairs or other convenient objects as support to stand up on their own； standing without assistant：Can the child stand alone for at least 3 seconds after the evaluator releases the child's hand； walking with assistant：Can children make coordinated and alternating stepping movements while walking； walking without assistant：Can children walk at least three steps without support, even if their gait is stiff and unstable；

  2. Evaluate the long-term effectiveness of EXG001-307 treatment: evaluate event free survival rate

    Time frame: 4 years

    Event free survival rate:

    The event free survival rate refers to the proportion of subjects who did not die and did not require permanent mechanical ventilation with a ventilator. Permanent mechanical ventilation refers to the need for tracheotomy to maintain ventilation in irreversible emergencies or after emergency resolution, or the need to rely on Bipap mechanical ventilation support for ≥ 16 hours per day for more than 3 consecutive weeks, or tracheal intubation for ≥ 3 weeks; Researchers evaluate patients by examining their daily use of ventilators.

  3. Evaluate the immunogenicity of EXG001-307 after treatment, including measuring the titers of anti-AAV9-ADA and anti-SMN-ADA antibodies.

    Time frame: 4 years

    After blood collection, send it to the central laboratory to complete the following antibody testing: the titers of anti-AAV9-ADA and anti-SMN-ADA antibodies (until two consecutive negative results);

  4. Evaluate the distribution of viral vectors after treatment with EXG001-307: detect the level of vector genome in saliva, feces, and urine samples of subjects.

    Time frame: 4 years

    Carrier distribution: Genomic level of carriers in saliva, urine, and fecal samples (up to two consecutive negative resultst);

  5. Exploratory objective: To calculate the proportion of subjects receiving other SMA treatments during the trial period

    Time frame: 4 years

    Calculate the proportion of subjects receiving other SMA treatments to the total number of subjects.

Sponsors and collaborators

Lead sponsor

Guangzhou Jiayin Biotech Ltd

Industry

Registry information

Official study title

A Long-term Follow-up Study Evaluating Intravenous Injection of EXG001-307 in Patients With Type 1 Spinal Muscular Atrophy (SMA)

Important dates

Study start
2025
Primary completion
2030
Study completion
2030
First posted
Sep 19, 2024
Registry last updated
Mar 5, 2025

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.

Related clinical trials

Published trials that share one or more normalized conditions with this study.