Antisense Oligonucleotide for Spinal Muscular Atrophy

Sponsor

First Affiliated Hospital of Fujian Medical University (Other)

Overall Status

Recruiting

CT.gov ID

NCT05187260

Collaborator

Fujian Medical University Union Hospital (Other), Peking Union Medical College Hospital (Other)

1,000

Enrollment

Locations

Anticipated Duration (Months)

333.3

Patients Per Site

13.3

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Spinal Muscular Atrophy	Drug: Nusinersen

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.

Study Design

Study Type:

Observational

Anticipated Enrollment :

1000 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

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

Actual Study Start Date :

Jan 1, 2022

Anticipated Primary Completion Date :

Jan 31, 2024

Anticipated Study Completion Date :

Jan 31, 2024

Arms and Interventions

Arm	Intervention/Treatment
5q SMA type I	Drug: Nusinersen SPINRAZA® (nusinersen) prescribed as part of standard of care
5q SMA type II	Drug: Nusinersen SPINRAZA® (nusinersen) prescribed as part of standard of care
5q SMA type III	Drug: Nusinersen SPINRAZA® (nusinersen) prescribed as part of standard of care
Non-5q SMA
Non-SMA subjects Including asymptomatic carriers of SMA, relatives of SMA patients and carriers, and patients undergoing clinical standard lumbar puncture

Outcome Measures

Primary Outcome Measures

Change in CSF Neurofilament Light Chain levels since baseline [up to 24months]
Measured by Single-molecule Array

Secondary Outcome Measures

Change in serum Neurofilament Light Chain levels since baseline [up to 24months]
Measured by Single-molecule Array

Eligibility Criteria

Criteria

Ages Eligible for Study:

1 Week to 50 Years

Sexes Eligible for Study:

All

Accepts 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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Department of Neurology, Peking Union Medical College Hospital	Beijing	Beijing	China	100010
2	Department of Pediatrics, Fujian Medical University Union Hospital	Fuzhou	Fujian	China	350001
3	Department of Neurology, First Affiliated Hospital Fujian Medical University	Fuzhou	Fujian	China	350005