Antisense Oligonucleotide for Spinal Muscular Atrophy

Antisense Oligonucleotide Therapy in Spinal Muscular Atrophy: An Observational Study in China

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05187260

Enrollment

1000

Registered

2022-01-11

Start date

2022-01-01

Completion date

2024-01-31

Last updated

2022-01-26

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Spinal Muscular Atrophy

Keywords

Spinal Muscular Atrophy, Antisense oligonucleotide, Neurofilament light chain

Brief summary

This is a longitudinal, multiple-center, observational study of patients genetically confirmed chromosome 5q SMA to monitor the efficacy, safety, tolerability of SPINRAZA® (nusinersen) for up to 24 months.

Detailed description

SPINRAZA® (nusinersen) is an antisense oligonucleotide (ASO) designed to treat SMA caused by mutations in chromosome 5q that lead to SMN protein deficiency. Nusinersen, approved by the FDA for treatment of SMA in 2016, was approved by the Chinese National Medical Products Administration in 2019. This is a prospective, longitudinal, multi-center, observational study designed to evaluate the efficacy, safety, tolerability and of nusinersen in patients genetically confirmed chromosome 5q SMA in China. Subjects with SMA I/II/III who are planning to initiate treatment with nusinersen will be enrolled in this study. All patients will be treated by their physicians according to standard clinical practice. SPINRAZA® (nusinersen) is administered as an intrathecal injection. A total of 5ml of cerebrospinal fluid (CSF) will be removed prior to administration of SPINRAZA® (nusinersen), which will be collected by the study. Neurofilament light chain (NfL) in CSF and blood will be assessed for the efficacy of nusinersen, as well as motor and pulmonary function. There will be a total of nine visits. All the patients with 5q SMA receiving nusinersen will be visited face to face at baseline, day 14, day 28 and day 63 after treatment initiation, and then 4-month intervals through month 24/22.

Interventions

DRUGNusinersen

SPINRAZA® (nusinersen) prescribed as part of standard of care

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

1 Weeks to 50 Years

Healthy volunteers

Yes

Inclusion criteria

* Patients genetically confirmed 5q SMA including types I, II and III, who are planning to initiate treatment with SPINRAZA® (nusinersen) as part of their clinical care plan. * Non-5q SMA patients undergoing clinical standard lumbar puncture * Non-SMA subjects including Asymptomatic carriers of SMA, relatives of SMA patients and carriers, and patients undergoing clinical standard lumbar puncture * Participants or Parent(s)/legal guardian(s) willing and able to complete the informed consent process

Exclusion criteria

* Contraindication for lumbar puncture * Inability to access intrathecal space for nusinersen injection

Design outcomes

Primary

Measure	Time frame	Description
Change in CSF Neurofilament Light Chain levels since baseline	up to 24months	Measured by Single-molecule Array

Secondary

Measure	Time frame	Description
Change in serum Neurofilament Light Chain levels since baseline	up to 24months	Measured by Single-molecule Array

Countries

China

Contacts

Primary ContactYi Lin, MD, PhD

linyi7811@163.com13615039153

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026