Spinal Muscular Atrophy clinical trials at University of California Health

10 in progress, 5 open to eligible people

Showing trials for

  • 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 .

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