A Study of the Safety and Preliminary Efficacy of NKG001 in Pediatric Patients With Type 1 or Type 2 Spinal Muscular Atrophy

NCT07617779 | Active Not Recruiting

• 1 other identifier: DJYY-NKG001-Ⅰ01
• Study Type: interventional
• Target: 21
• Locations: 1 country
• Sites: 1

Brief Summary

This study is a single-center, open-label, single-arm, non-randomized, single-dose, dose-escalation investigator-initiated trial (IIT) designed to evaluate the safety, tolerability, and preliminary efficacy of NKG001 Injection administered via different dosing regimens (intravenous \[IV\] alone or intravenous combined with intrathecal \[IV+IT\]) in subjects with Type 1 or Type 2 spinal muscular atrophy (SMA). A total of 13-21 SMA subjects aged ≤60 months are planned to be enrolled. Based on age at enrollment, subjects will be stratified into two age cohorts for independent evaluation: Age Cohort 1: subjects aged \<24 months at dosing; Age Cohort 2: subjects aged ≥24 months and ≤60 months at dosing. Eligible subjects must carry 2 or 3 copies of the SMN2 gene. Note: Subjects with 3 SMN2 copies must be able to sit independently but unable to walk independently. Four dose cohorts are planned as follows: S1: 6.0 × 10\^13 vg/kg, IV S2: 1.2 × 10\^14 vg/kg, IV S3: 6.0 × 10\^13 vg/kg, IV + 6 × 10\^13 vg/person, IT S4: 6.0 × 10\^13 vg/kg, IV + 1.2 × 10\^14 vg/person, IT Subjects in the S1 cohort (2 SMN2 copies and aged \<24 months at dosing) and the S2 cohort (2 or 3 SMN2 copies and aged ≤60 months at dosing) will receive a single intravenous administration of NKG001 Injection. Subjects in the S3 and S4 cohorts will receive a single administration of NKG001 Injection via combined intravenous and intrathecal routes. In each of these two cohorts, the first enrolled subject must have 2 SMN2 copies and be aged \<24 months at dosing, while the remaining subjects may have either 2 or 3 SMN2 copies and be aged ≤60 months at dosing.

Conditions

Spinal Muscular Atrophy (SMA)

Keywords

NKG001; Nikegen; SMA

Outcome Measures

Primary Outcomes (2)

• Number of Participants Who Experienced Adverse Events (AEs) and Serious Adverse Events (SAEs) During the Study.

  Assess the number of AEs and SAEs as characterized by Common Terminology Criteria for Adverse Events (CTCAE) v5.0.

  Up to 24 months

• Incidence of Dose-Limiting Toxicities (DLTs) Within 30 Days After Administration.

  DLTs are defined according to the NCI Common Terminology Criteria for Adverse Events (CTCAE) v5.0.

  Up to 30 days

Secondary Outcomes (10)

• Change From Baseline in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score (Participants aged <24 months at dosing)

  UP to 24 months

• Change From Baseline in Hammersmith Infant Neurological Examination (HINE) Section 2 (Participants aged <24 months at dosing)

  Baseline, Month 6, Month 12, Month 18, Month 24

• Proportion of Participants Who Survival at 14 Month of Age (Participants aged <24 months at dosing).

  Up to 14 month of age

• Proportion of Participants Maintaining Growth Without Non-oral Nutrition at 18 Month of Age (Participants aged <24 months at dosing).

  Up to 18 month of age

• Proportion of Ventilator-independent Participants at 18 Month of Age (Participants aged <24 months at dosing).

  Up to 18 month of age

Study Arms (1)

NKG001 administration group

EXPERIMENTAL

Genetic: NKG001

Interventions

NKG001 GENETIC

NKG001 Injection

NKG001 administration group

Eligibility Criteria

• Age: Up to 60 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Subjects who meet all of the following criteria are eligible for enrollment in this study:
• Subjects aged ≤60 months on the day of dosing, regardless of sex.
• Subjects must have a genetically confirmed diagnosis of spinal muscular atrophy (SMA) caused by biallelic SMN1 mutations (deletion or point mutation). SMN2 copy number requirements are as follows:
• S1 cohort and S2-A cohort: 2 copies of SMN2;
• S2-B cohort: 3 copies of SMN2;
• S3 and S4 cohorts: 2 or 3 copies of SMN2.
• Notes:
• Subjects in the S1 cohort and S2-A cohort may be enrolled regardless of the presence or absence of clinical symptoms.
• Subjects with 3 copies of SMN2 must be able to sit independently but unable to walk independently. Independent sitting is defined according to the WHO Multicentre Growth Reference Study (WHO-MGRS) criteria as maintaining an upright seated position with the head erect for at least 10 seconds without support from the arms or hands.
• The subject's legally authorized representative (LAR) must understand the purpose, potential risks, and rights associated with the study; agree to the subject's participation in all study procedures, assessments, and visits; and voluntarily sign the informed consent form (ICF).
• During the study period, based on changes in the subject's clinical condition, the subject's LAR must be willing to comply with standard-of-care recommendations provided by the investigator, including nasogastric feeding, non-invasive mechanical ventilation, cough assist devices, and other supportive treatments as needed.

You may not qualify if:

• Subjects meeting any of the following criteria will be excluded from participation in the study:
• Gestational age at birth \<35 weeks (245 days).
• During screening, oxygen saturation \<96% while awake or asleep without supplemental oxygen or respiratory support.
• During screening, subjects with moderate or greater swallowing impairment whose caregivers are unwilling to use alternative feeding methods to oral feeding.
• Requirement for invasive ventilation or tracheostomy, or use of non-invasive ventilatory support for an average of ≥12 hours/day during screening.
• Positive test results for any of the following: human immunodeficiency virus (HIV) antibody, hepatitis B surface antigen (HBsAg), hepatitis C virus (HCV) antibody, Treponema pallidum antibody, TORCH infection, or Epstein-Barr virus (EBV).
• Presence of other severe infections or diseases that may pose unnecessary risk for gene replacement therapy, including but not limited to:
• Upper or lower respiratory tract infection requiring medical care or intervention (including systemic therapy, hospitalization, respiratory support, or supplemental oxygen) within 4 weeks prior to dosing, or severe non-pulmonary/non-respiratory infection;
• Known epilepsy;
• Diabetes mellitus;
• Idiopathic hypocalcemia;
• Severe cardiovascular or cerebrovascular disease;
• Severe hepatic or renal impairment.
• Clinically significant abnormal laboratory findings, including:
• Serum creatinine above the normal range;

Sponsors & Collaborators

• Nikegen Pharmaceutical (Hangzhou) Company Limited: lead
• Xiangya Hospital of Central South University: collaborator

Study Sites (1)

Xiangya Hospital of Central South University

Changsha, Hunan, 410008, China

Location

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 15, 2026
• First Posted: June 1, 2026
• Study Start: April 21, 2024
• Primary Completion (Estimated): April 23, 2028
• Study Completion (Estimated): April 23, 2030
• Last Updated: June 1, 2026

Record last verified: 2026-05

Locations

CN (1)