Spinal Muscular Atrophy clinical trials at University of California Health
10 in progress, 5 open to eligible people
Risdiplam in Participants With Spinal Muscular Atrophy (SMA)
open to all eligible people
A multi-center, longitudinal, prospective, non-comparative study to investigate the long-term safety and effectiveness of risdiplam, prescribed based on clinician judgment as per the Evrysdi® U.S. Package Insert (USPI) in adult and pediatric participants with spinal muscular atrophy (SMA). In this study, participants will be followed for up to 5 years from enrollment or until withdrawal of consent, loss to follow-up, or death. Participants who discontinue risdiplam may still remain in the study, if they agree to continue participating in the follow-up assessments.
at UC Davis UC Irvine
NMD670 in Ambulatory Adult Patients With Type 3 Spinal Muscular Atrophy
open to eligible people ages 18-75
The purpose of this study is to evaluate the efficacy, safety, tolerability and pharmacokinetics of NMD670 in the treatment of ambulatory adults with spinal muscular atrophy type 3
at UCLA
Intrathecal Port and Catheter System for Subjects with Spinal Muscular Atrophy
open to eligible people ages 3 years and up
The primary objective of the clinical investigation is to demonstrate successful clinical use of the ThecaFlex DRx™ System in delivering nusinersen in subjects with spinal muscular atrophy (SMA). All enrolled subjects will undergo implantation of the investigational device (ThecaFlex DRx™ System) and will be followed for 12 months after receiving the implant. The 12-month data will be used to assess the primary endpoint support a Pre-Market Approval (PMA) application.
at UCSD
Clinical Procedures to Support Research in ALS
open to eligible people ages 18 years and up
The purpose of the Clinical Procedures To Support Research (CAPTURE) study is to utilize information collected in the medical record to learn more about a disease called amyotrophic lateral sclerosis (ALS) and related disorders.
at UC Irvine
Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
open to all eligible people
Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons. SMA is an autosomal recessive, early childhood disease with an incidence of 1:10,000 live births. SMA is the leading cause of infant mortality due to genetic diseases. The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options and also to characterize and assess long-term safety and effectiveness of OAV-101.
at UC Davis UCLA UCSD
Multiple Doses of Nusinersen (ISIS 396443) Delivered to Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy
Sorry, in progress, not accepting new patients
The primary objective of the study is to examine the efficacy of multiple doses of Nusinersen administered intrathecally in preventing or delaying the need for respiratory intervention or death in infants with genetically diagnosed and presymptomatic spinal muscular atrophy (SMA). Secondary objectives of this study are to examine the effects of Nusinersen in infants with genetically diagnosed and presymptomatic SMA.
at UC Davis UCLA
Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy
Sorry, in progress, not accepting new patients
This trial will study the efficacy and safety of taldefgrobep alfa as an adjunctive therapy for participants who are already taking a stable dose of nusinersen or risdiplam or have a history of onasemnogene abeparvovec-xioi, compared to placebo.
at UCSD UCSF
Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam
Sorry, in progress, not accepting new patients
This Phase 3 trial (Study SRK-015-003) is being conducted in patients ≥2 years old at Screening, who were previously diagnosed with later-onset spinal muscular atrophy (SMA) (i.e., Type 2 and Type 3 SMA) and are receiving an approved survival motor neuron (SMN) upregulator therapy (i.e., either nusinersen or risdiplam), to confirm the efficacy and safety of apitegromab as an adjunctive therapy to nusinersen and evaluate the efficacy and safety of apitegromab as an adjunctive therapy to risdiplam.
at UCSD
Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab-ONYX
Sorry, in progress, not accepting new patients
The ONYX study is an Open-Label, Multicenter, Extension study that will evaluate the long-term safety and efficacy of Apitegromab in Patients with Type 2 and Type 3 SMA who have completed TOPAZ or SAPPHIRE.
at UCSD
Phenotype, Genotype & Biomarkers in ALS and Related Disorders
Sorry, accepting new patients by invitation only
The goals of this study are: (1) to better understand the relationship between the phenotype and genotype of amyotrophic lateral sclerosis (ALS) and related diseases, including primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA), and frontotemporal dementia (FTD); and (2) to develop biomarkers that might be useful in aiding therapy development for this group of disorders.
at UCSD
Our lead scientists for Spinal Muscular Atrophy research studies include Nanette Joyce, DO Namita Goyal, MD Perry Shieh, MD, PhD.
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