Members of the Registry are informed of and have the opportunity to participate in clinical trials and research studies. A brief description of research studies that are currently recruiting participants is provided below. If you are interested in more information on any of these studies, you must first log in then select the "Research Opportunities" button. Once you are logged in you can request further information about any of the studies you are interested in. If you have not registered online with the International SMA Patient Registry, you can do so from the log in page.

Open Research Studies

• The Role of Motor Unit Number Estimation (MUNE) in Adults with Spinal Muscular Atrophy
  This is a research study to follow the course of motor neuron loss in adults with spinal muscular atrophy (SMA) using the electrophysiological technique of motor unit number estimation (MUNE).
  
  
• Prospective Controlled Trial of Valproic Acid in Ambulant Adults with Spinal Muscular Atrophy (VALIANT SMA) Study
  This is a research study to assess the efficacy of oral Valproic Acid (VPA) in adult patients with SMA.
  
  
• Outcome and Effect of Pregnancy in Spinal Muscular Atrophy
  This is a research study of the effects of pregnancy and delivery on adult women with Spinal Muscular Atrophy (SMA). To participate in this study you do not have to have ever been pregnant.
  
  
• Isolation and Characterization of Human Embryonic Stem Cells Carrying Disease Genes Obtained from IVF Clinics
  This is a study that derives disease specific human embryonic stem cell lines that can be used to study human genetic diseases. These cell lines are obtained by using embryos that have undergone a procedure called pre-implantation genetic diagnosis (PGD).
  
  Because the study described above involves human stem cell procurement, we would like to advise you that the embryo donation and stem cell research described below will be conducted by the Harvard Stem Cell Institute, not by the International SMA Patient Registry. The registry neither supports nor condemns embryo donation and stem cell research; rather we are involved only in providing registry participants with as much information about research opportunities as possible so that each person can make their own informed decision about whether or not to participate in this or any other research study.

In addition to the open studies listed above, the Registry has recently recruited for the studies listed below. The studies listed below are not currently recruiting participants.

• Phase I/II Trial of Valproic Acid and Carnitine in Infants with Spinal Muscular Atrophy Type I (CARNI-VAL Type I)
  This study is now closed.  This was a research study to evaluate the combination of Valproic acid (VPA) and L-Carnitine for the treatment of SMA in infants with SMA type I. These clinical trials were conducted at several universities across the United States and one location in Canada.
  
  Letters were sent to 772 participants.  Of the 207 responses, 15 individuals meeting the inclusion/exclusion criteria were forwarded to study sites.
  

• Pilot Study of Biomarkers for Spinal Muscular Atrophy (BforSMA)
  This study is now closed.  This was a research study to identify potential biomarkers (measures) that can be used to evaluate SMA disease severity. A “biomarker” is something that can be measured to assess disease and treatments (cholesterol level is a biomarker for heart health). 
  
  Letters were sent to 1102 participants.  Of the 333 responses, 98 individuals meeting the inclusion/exclusion criteria were forwarded to study sites.

• A Randomized Controlled Trial of Creatine in Patients with Spinal Muscular Atrophy
  This study is now closed. The researcher requested de-identified data to assist in establishing prevalence and incidence information for her grant application.
  
  De-identified statistical data was sent to researcher per request.
  

• Natural History of Respiratory Care in SMA
  This study is now closed. The researcher requested de-identified data to evaluate the natural history of respiratory care in SMA type I patients.
  
  De-identified statistical data was sent to researcher per request.
  

• A Brain-Based System Using Electroencephalogram (EEG) in Able-Bodied and Severely Motor Disabled Individuals
  This study is now closed.  This was a research study designed to record brain activity while each participant imagined that they were moving a cursor on a computer screen. An electroencephalogram was used to measure and record brain activity during the study.
  
  
• Changing Natural History of Spinal Muscular Atrophy Type I
  This study is now closed.  This study was a survey which studied the respiratory care of patients with SMA.
  
  Letters were sent to 391 participants (caregivers of Type I SMA children) of the International Spinal Muscular Atrophy Patient Registry participants. Of these, 191 de-identified surveys were sent to researcher for her study aimed at studying the changing natural history of Spinal Muscular Atrophy Type I.
  
  This study resulted in the following publication: Oskoui M, Levy G, Garland CJ, Gray JM, O’Hagen J, De Vivo DC, Kaufmann P. The changing natural history of spinal muscular atrophy type 1. J. Neurology 2007:69; 1931-1936.
  
  
• A Phase I Dose Escalation Study of Sodium Phenylbutyrate in Pediatric Subjects with Type I Spinal Muscular Atrophy (SMA)
  This study is currently closed. We hope to post new study enrollment information for other study sites also participating in this research study in the very near future.  Please check back. 

  For the initial request for this study, letters were sent to 798 participants and 15 participant responses meeting inclusion/exclusion criteria were forwarded to the study site.

  “A Phase I Dose Escalation Study of Sodium Phenylbutyrate in Pediatric Subjects with Type I Spinal Muscular Atrophy (SMA)” is a research study to determine the maximum tolerated dose (the highest dose) of sodium phenylbutyrate that can be safely given to children with SMA I. 
  
  

• Natural History Survey
  This study is now closed. The purpose of this survey is primarily to assist the SMA ICC Standard of Care and Clinical Trials committees, via gathering data from parents of children with SMA.  This analysis will improve the understanding of the natural history of SMA and provide information needed for clinical trial planning. 
  
  Five main areas were explored:
  
  
  • How the diagnosis of SMA was made in your child
  • How your child has received care for SMA: nutrition, therapy, surgery, breathing, hospitalizations and genetic counseling
  • How you as a parent/caregiver handle your child’s issues
  • What are your thoughts and experience with clinical trials in SMA
  • Where do you find information on SMA

  Letters were sent to 816 participants of the International Spinal Muscular Atrophy Patient Registry informing them of a survey being conducted on Survey Monkey. 

  Caregiving Parents of Children with Life-Limiting Illnesses: Beyond Stress and Coping to Growth
  This study is now closed.  This was a research study to discover how the experience of caring for a child with a life-limiting illness changes parents’ lives.
  
  

  Letters were sent to 837 participants of the International Spinal Muscular Atrophy Patient Registry. Of the 299 responses, 171 individuals were interested in participating in this study and were forwarded to the researcher.

• In Silico Modeling and Stimulation of SMA Patients in the SMA Patient Registry Database
  This study is now closed.  This study used innovative modeling and simulation methods to understand the natural disease progression for patients diagnosed with SMA and to integrate this with pharmacokinetic data from actual and simulated SMA patient populations. 
  
  De-identified statistical data was sent to researcher per request.

• SMA CARNI-VAL Trial Multi-Center Phase II Trial of Valproic Acid and Carnitine in Patients with Spinal Muscular Atrophy
  This study is now closed.  The primary objective of this Phase II trial is to assess the efficacy of oral valproic acid (VPA) and carnitine in SMA children 2-17 years of age.
  
  Letters were sent to 1,318 participants.  Of the 583 responses, 167 individuals were interested in participating in this study and were forwarded to study sites.