Clinical Research Update. Spinal Muscular Atrophy Clinical Research Center. Columbia University Department of Neurology

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This website is supported by the CDC Division of Human Development and Disability Grant Number 1H75DD000473-01


SMA Research Update Providing Hope!




Five active studies within Columbia University Medical Center:




An Open-Label Study to Investigate the Safety, Tolerability, and Pharmacokinetics/Pharmacodynamics of RO7034067 in Adult and Pediatric Patients With Spinal Muscular Atrophy (Jewelfish)



**ACTIVE AND RECRUITING**



This is a multi-center, exploratory, non-comparative and open-label study to investigate the safety, tolerability, pharmacokinetic (PK) and PK/pharmacodynamic (PD) relationship of RO7034067 in adults and children with Type 2 and Type 3 Spinal Muscular Atrophy (SMA) who have been previously treated with a survival of motor neuron 2 (SMN2)-targeting therapy.

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A Two Part Seamless, Open-label, Multicenter Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Infants With Type 1 Spinal Muscular Atrophy (Firefish)



**ACTIVE AND RECRUITING**



Open-label, multi-center clinical study is to assess the safety, tolerability, pharmacokinetic, pharmacodynamics, and efficacy of RO7034067 in infants with Type 1 spinal muscular atrophy (SMA). The study consists of two parts, an exploratory dose finding part (Part 1) and a confirmatory part (Part 2) which will investigate RO7034067 for 24-months at the dose selected in Part 1.

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Phase 3, Open-Label, Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1(STR1VE)



**ACTIVE AND RECRUITING**



Phase 3, open-label, single-arm, single-dose, study of AVXS-101 (gene replacement therapy) in patients with spinal muscular atrophy (SMA) Type 1 who meet enrollment criteria and are genetically defined by nonfunctional survival motor neuron 1 gene (SMN1) with 1 or 2 copies of survival motor neuron 2 gene (SMN2). Fifteen (15) patients < 6 months (< 180 days) of age at the time of gene replacement therapy (Day 1) will be enrolled.

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Clinical Study of Spinal Muscular Atrophy



**ONGOING, RECRUITING**



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Oxidative Capacity and Exercise Tolerance in Ambulatory SMA



**ACTIVE AND RECRUITING**



Spinal Muscular Atrophy (SMA) is a progressive, recessively-inherited neuromuscular disease characterized by weakness and muscle atrophy due to the loss of spinal cord motor neurons. The results from this study would provide preliminary data, using non-invasive methods, on oxidative capacity in ambulatory SMA patients and disease controls to aid in the design of exercise intervention studies. Furthermore, this information would link previous laboratory and preclinical findings of mitochondrial depletion in SMA to the clinical condition and provide important information for future studies designed to improve oxidative capacity and fitness in SMA patients.

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Remaining studies within Columbia University Medical Center:




An Open-Label Extension Study for Patients With Spinal Muscular Atrophy Who Previously Participated in Investigational Studies of ISIS 396443 (SHINE)



**CLOSED FOR ENROLLMENT**



This study was initiated and the protocol was registered by Ionis Pharmaceuticals, Inc. In August 2016, Biogen assumed responsibility for this study. The primary objective is to evaluate the long-term safety and tolerability of nusinersen (ISIS 396443) administered by intrathecal (IT) injection to participants with Spinal Muscular Atrophy (SMA) who previously participated in investigational studies of nusinersen. The secondary objective is to examine the long-term efficacy of nusinersen administered by IT injection to participants with SMA who previously participated in investigational studies of nusinersen.

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Spinal Muscular Atrophy (SMA) Biomarkers in the Immediate Postnatal Period of Development

Principal Investigator, Claudia Chiriboga, MD, MPH

**COMPLETED**



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4-Aminopyridine (4-AP) in SMA: A Pilot Study in Ambulatory Patients


Principal Investigator, Claudia Chiriboga, MD, MPH

**COMPLETED**



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Biomaterial Collection and Banking for Translational Research in Spinal Muscular Atrophy


Principal Investigator: Wendy Chung, MD, PhD

**COMPLETED**



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ISIS 396443 - CS2: An Open-Label, Dose Escalation Study to Assess the Safety, Tolerability and Dose-Range Finding of Multiple Doses of ISIS 396443 Delivered Intrathecally to Patients with Spinal Muscular Atrophy.


Principal Investigator, Claudia Chiriboga, MD, MPH

**COMPLETED**



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ISIS 396443 CS1: An Open-label, Escalating Dose Study to Assess the Safety, Tolerability and Dose-range Finding of a Single Intrathecal Dose of ISIS 396443 in Patients with Spinal Muscular Atrophy



**COMPLETED**



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Randomized, Controlled Clinical Trial of Exercise in Patients with Spinal Muscular Atrophy (SMA)


Principal Investigator: Darryl C. De Vivo, MD

**COMPLETED**



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For more studies actively recruiting and enrolling patients throughout the world outside of Columbia University, for further information go to clinicaltrials.gov.



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