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

©2007 Columbia University
SMA Clinical Research Center
Neurological Institute
of New York
updated December 7, 2011
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Clinical Research Update




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



**OPEN FOR ENROLLMENT**



Isis Pharmaceuticals, Inc. is conducting a Phase 1 clinical study of ISIS-396443 (ISIS-SMNRx) in patients with Spinal Muscular Atrophy (SMA). ISIS-SMNRx is a drug that is designed to modulate the splicing of the SMN2 gene to significantly increase the production of functional SMN protein. In previously published results, researchers showed that ISIS-SMNRx produced sustained activity in mouse models of SMA and that adequate drug tissue concentrations were achieved in the spinal cord of non-human primates.

The Phase 1 study of ISIS-SMNRx is a dose-escalation study designed to assess the safety, tolerability and pharmacokinetic profile (drug levels) of ISIS-SMNRx in patients with SMA. Approximately 24 children will be enrolled in the study - the study consists of 4 groups of patients with 6 patients in each group. In this study, ISIS- SMNRx will be administered by intrathecal delivery (into the cerebral spinal fluid) through an injection in the lower back into the fluid-filled space below the bottom of the spinal cord.

To be considered for eligibility in the study, patients must:
  • be between 2 and 14 years of age
  • have a documented homozygous SMN1 gene deletion and symptoms of SMA
  • not have a gastric feeding tube
  • not be required to use ventilator support
  • not have been hospitalized for surgery or a pulmonary event within the past 2 months
  • meet additional study-specific criteria
The study is being conducted in multiple centers within the United States. The Columbia University Medical Center is participating in the study to provide this opportunity to patients with SMA in the New York tri-state region. If you would like more information about this study

please contact Jackie Montes at 212-342-5767 or

jm598@columbia.edu




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


Principal Investigator: Darryl C. De Vivo, MD

**OPEN FOR ENROLLMENT**



The Columbia University SMA Clinical Research Center plans to recruit SMA Type 3 subjects to participate in a randomized trial of the effects of cardiovascular and strengthening exercising on people with SMA. Individuals who qualify for this study must be between the ages of 8 and 50, have genetically confirmed SMA, and be able to walk independently for at least 25 meters.

The study will last for 18 months, and will require that subjects come for visits at the Columbia SMA Clinical Research Center every 3 months. Each visit will consist of a series of tests that include motor function measures, a physical exam, questionnaires, an exercise capacity test which involves riding a stationary bicycle, and a test where the subject is asked to walk as far as they can in six minutes.

During the study subjects will be asked to closely follow a specific training regimen at some points and at other points they may be asked to exercise in the same manner they do normally. The exercises they will be asked to perform include biking on a stationary cycle and lifting hand weights. The main goal of the study is to see if individuals who participate in the exercise protocol have increases in their strength and/or function.


If you are interested in participating,

please contact Jackie Montes at 212-342-5767 or

jm598@columbia.edu.




Biomaterial Collection and Banking for Translational Research in Spinal Muscular Atrophy


Principal Investigator: Wendy Chung, MD, PhD

**OPEN FOR ENROLLMENT**



SMA is an often severely disabling neuromuscular disease primarily affecting children. It causes muscle atrophy and weakness as well as frequent pulmonary, nutritional, and orthopedic complications. Many children with SMA eventually undergo surgery, most commonly for placement of feeding tubes and for scoliosis repair. These surgical procedures provide an opportunity to collect and bank small amounts of muscle and skin tissue to be used for research in SMA and related disorders. Similarly, children with disease other than SMA may undergo similar surgical procedures, providing an opportunity to collect muscle and skin samples from non-SMA control subjects. SMA is caused by a defect in the "Survival of Motor Neurons" (SMN1) gene. Researchers are hopeful to find a cure, because nature has provided humans with a second gene, almost a copy of the SMN1 gene. Normally, the second gene does not contribute much, but researchers think that its function can be increased by medications.

To learn more about the steps that lead to muscle weakness in SMA, skin and muscle samples are helpful to researchers working in the laboratory. This research aims to better understand the disease and to find and test potential treatments first in the laboratory and then ultimately in patients through clinical trials. Collecting samples from SMA and control subjects who undergo surgeries for clinical reasons provides an opportunity to gather important material for SMA research without more than minimal additional risk for the research participant undergoing surgery.

If you are interested in participating, please contact Nicole Holuba LaMarca at nh2282@columbia.edu or 212-305-5205




Clinical Assessments of Patients with Spinal Muscular Atrophy


Prinicipal Investigator: Darryl C. De Vivo, MD

**OPEN FOR ENROLLMENT**



Spinal Muscular Atrophy (SMA) is an often devastating neuromuscular disease that can lead to severe muscle weakness. Most commonly, the disease begins in infancy or early childhood and results in muscle weakness that limits mobility. The purpose of this study is to collect information on patients with neuromuscular disease (NMD). Assessments routinely collected at clinical management visits from both patients and healthy controls on gait and motor function, and quality of life will be performed. The data will be used to determine indicators of prognosis, and the clinical meaningfulness of changes in standard outcome measures. The data will be maintained in a secure database at the Pediatric Neuromuscular Clinic, Columbia University. All clinical information obtained within or outside Columbia University Medical Center needed for patient management may be included in the database.

If you are interested in participating, please contact Jackie Montes, Research Coordinator, at jm598@columbia.edu or 212-342-5767 for more information.




Clinical Study of Spinal Muscular Atrophy



CLOSED FOR ENROLLMENT



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Research in Spinal Muscular Atrophy: We are conducting a clinical research study for patients with spinal muscular atrophy. The goal of this study is to obtain information needed to plan a clinical trial in spinal muscular atrophy. This research is being done at three centers on the east coast - Columbia University (New York City), Children's Hospital (Boston), and Children's Hospital (Philadelphia). Participants are evaluated at one of these clinics regularly at no charge. During each visit, participants undergo several tests. The tests are safe and only a few of them cause mild discomfort. The information gained in this research is an important step in establishing a clinical trial for spinal muscular atrophy. To find out whether your child qualifies, please call or email the study coordinator closest to you.

Jackie Montes, PT - Clinical Coordinator


Phone: 1-212-342-5767
E-mail: » jm598@columbia.edu

» Research network: Pediatric Neuromuscular Clinical Research Network




In-Home Pulmonary and Motor Function Monitoring in Spinal Muscular Atrophy


**Research Ongoing; Closed For Enrollment**



The purpose of this research study is to evaluate outcome measures for future clinical trials in patients with Spinal Muscular Atrophy (SMA) and to determine the feasibility, safety, and acceptability of in-home pulmonary and motor function monitoring in children with SMA.
Please contact the Study Coordinator, Jackie Montes, PT, MA, NCS, at 212-342-5767 or jm598@columbia.edu for more information.



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