Antisense Oligonucleotide for Spinal Muscular Atrophy

Fujian Medical University (FJMU)

Status: Unknown

Conditions: Spinal Muscular Atrophy

Treatments: Drug: Nusinersen

Study type: Observational

Funder types: Other

Identifiers

NCT05187260

MRCTA,ECFAH of FMU [2021]489

Details and patient eligibility

About

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.

Full 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.

Enrollment: 1,000 estimated patients

Sex: All

Ages: 1 week to 50 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

1,000 participants in 5 patient groups

5q SMA type I

Treatment:

Drug: Nusinersen

5q SMA type II

Treatment:

Drug: Nusinersen

5q SMA type III

Treatment:

Drug: Nusinersen

Non-5q SMA

Non-SMA subjects

Description:

Including asymptomatic carriers of SMA, relatives of SMA patients and carriers, and patients undergoing clinical standard lumbar puncture

Sponsors of this trial

Lead Sponsor

Fujian Medical University (FJMU)

Collaborating Sponsor

Chinese Academy of Medical Sciences & Peking Union Medical College