Clinical trial NCT03878030: Effect of Nusinersen on Adults With Spinal Muscular Atrophy
Official title: Effect of Nusinersen on Motor Function in Adult Patients With Spinal Muscular Atrophy Types 2 and 3
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Adult Spinal Muscular Atrophy
Lead sponsor: Northwell Health
Sponsor class: OTHER
First posted: 2019-03-18
Enrollment: 12
Sex: ALL
Minimum age (years): 18
Maximum age (years): 60
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: The population to be studied are a homogenous group of adult subjects with 5q SMA seeking treatment with nusinersen. The subjects will have a broad phenotype spectrum of motor weakness including ability to ambulate, non-ambulatory and varying degrees of upper limb motor function and respiratory and swallow abilities, with some more affected and requiring invasive ventilation or NIV, and/or PEG tubes for nutrition.

Brief summary: Observational study of adult patients with spinal muscular atrophy types 2 and 3 receiving nusinersen

Detailed description: Observational study to assess effects of nusinersen on motor function in adult patients with spinal muscular atrophy who are both ambulatory and non-ambulatory. Subjects will receive standard of care with nusinersen intrathecal injection and undergo baseline and every 6 month motor assessments and pulmonary function testing during the first two years of treatment with nusinersen.

Eligibility criteria: Inclusion Criteria:

* Genetically confirmed 5q SMA
* ability to access intrathecal space for nusinersen injection

Exclusion Criteria:

* Renal impairment
* thrombocytopenia
* inability to access intrathecal space by CT or flouro guided injection

Primary outcomes:
measure: Change in quantitative motor function
timeFrame: Two years
measure: Change in upper limb motor function
timeFrame: Two years
measure: Change in 6 minute walk test in ambulatory patients
timeFrame: Two years
Secondary outcomes:
measure: Change in pulmonary function by spirometry forced vital capacity (FVC)
timeFrame: Two years
measure: Change in 10 meter walk test in ambulatory patients
timeFrame: Two years
measure: Change in compound muscle action potential (CMAP) amplitude by nerve conduction velocity (NCV) criteria
timeFrame: Two years
measure: Change in pulmonary function by spirometry forced expiratory volume (FEV)
timeFrame: Two years
Other outcomes:
Locations:
city: Great Neck
country: United States
facility: Northwell Health Neuroscience
state: New York
Study officials:
affiliation: Northwell Health
name: Anthony Geraci, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752.
citation: Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504.