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

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

Study Overview

• Status: Enrolling by invitation
• Conditions: Spinal Muscular Atrophy
• Intervention / Treatment: Other: No intervention, only for observational studies

Detailed Description

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.

• Study Type: Observational
• Enrollment (Estimated): 18

Contacts and Locations

Study Locations

• China
  • Shanghai
    • Shanghai, Shanghai, China
      • The Children's Hospital of Fudan University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Type 1 SMA patients who have previously used EXG001-307 in trial EXG001-307-102 .

Description

Inclusion Criteria:

1. Previously received treatment with EXG001-307 in trial EXG001-307-102;
2. 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:

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
long-term safety：Assess the types, severity, and incidence of serious adverse events (SAEs) and adverse events of particular concern (AESIs)	Assess the types, severity, and incidence of serious adverse events (SAEs) and adverse events of particular concern (AESIs)	4 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Evaluate the long-term effectiveness of EXG001-307 treatment: assess the achievement of exercise milestones based on the scale	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；	4 years
Evaluate the long-term effectiveness of EXG001-307 treatment: evaluate event free survival rate	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.	4 years
Evaluate the immunogenicity of EXG001-307 after treatment, including measuring the titers of anti-AAV9-ADA and anti-SMN-ADA antibodies.	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 years
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.	Carrier distribution: Genomic level of carriers in saliva, urine, and fecal samples (up to two consecutive negative resultst);	4 years
Exploratory objective: To calculate the proportion of subjects receiving other SMA treatments during the trial period	Calculate the proportion of subjects receiving other SMA treatments to the total number of subjects.	4 years

Collaborators and Investigators

• Sponsor: Hangzhou Jiayin Biotech Ltd
• Investigators: Principal Investigator: YI WANG, Ph D., Children's Hospital of Fudan University

Study record dates

Study Major Dates

• Study Start (Estimated): March 1, 2025
• Primary Completion (Estimated): September 10, 2030
• Study Completion (Estimated): December 31, 2030

Study Registration Dates

• First Submitted: August 21, 2024
• First Submitted That Met QC Criteria: September 6, 2024
• First Posted (Actual): September 19, 2024

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: February 28, 2025
• Last Verified: February 1, 2025

More Information

Terms related to this study

• Keywords: SMA
• Additional Relevant MeSH Terms: Neurologic Manifestations; Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Neuromuscular Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; Motor Neuron Disease; Atrophy; Muscular Atrophy; Muscular Atrophy, Spinal
• Other Study ID Numbers: EXG001-307-LTFU

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No