Clinical trial NCT05187260: Antisense Oligonucleotide for Spinal Muscular Atrophy
Official title: Antisense Oligonucleotide Therapy in Spinal Muscular Atrophy: An Observational Study in China
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Spinal Muscular Atrophy
Keywords: Spinal Muscular Atrophy
Antisense oligonucleotide
Neurofilament light chain
Lead sponsor: First Affiliated Hospital of Fujian Medical University
Sponsor class: OTHER
Collaborators: name: Fujian Medical University Union Hospital
name: Peking Union Medical College Hospital
First posted: 2022-01-11
Enrollment: 1000
Sex: ALL
Minimum age (years): 1
Maximum age (years): 50
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients genetically confirmed 5q SMA including types I, II and III

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.

Eligibility criteria: 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

Primary outcomes:
measure: Change in CSF Neurofilament Light Chain levels since baseline
timeFrame: up to 24months
Secondary outcomes:
measure: Change in serum Neurofilament Light Chain levels since baseline
timeFrame: up to 24months
Other outcomes:
Locations:
city: Beijing
country: China
facility: Department of Neurology, Peking Union Medical College Hospital
state: Beijing
city: Fuzhou
country: China
facility: Department of Pediatrics, Fujian Medical University Union Hospital
state: Fujian
city: Fuzhou
country: China
facility: Department of Neurology, First Affiliated Hospital Fujian Medical University
state: Fujian
Study officials:
affiliation: First Affiliated Hospital Fujian Medical University
name: Wan-Jin Chen
role: PRINCIPAL_INVESTIGATOR
References: