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)
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
18
No intervention, only for observational studies
The Children's Hospital of Fudan University
Shanghai, Shanghai Municipality, China
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)
Time frame: 4 years
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；
Time frame: 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.
Time frame: 4 years
Evaluate the immunogenicity of EXG001-307 after treatment, including measuring the titers of anti-AAV9-ADA and anti-SMN-ADA antibodies.
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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);
Time frame: 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);
Time frame: 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.
Time frame: 4 years