Research Study Opportunities

By participating in a research study, you will help the scientific and research communities accelerate therapy development for spinal muscular atrophy (SMA) and improve patient care.

SMA Studies Seeking Participants

Information collected through research opportunities and surveys are important tools for diseases such as SMA. They assist clinicians, researchers, and our biopharmaceutical partners in conducting efficient and effective clinical trials, developing new treatments, and improving care.

By sharing your information, you will help the scientific and research communities accelerate therapy development for SMA and improve patient care.

Check out the list of currently recruiting studies below!

researcher-meeting-summary
What:

This is an observational study to investigate the improvement of NMJ defects in adult patients with SMA following treatment with Risdiplam. Eligible patients will receive treatment with daily oral Risdiplam after receiving approval through their commercial insurance or drug assistance program. All subjects will be evaluated at the baseline visit to determine eligibility. Eligible subjects will be reevaluated after completing six and 12 months of Risdiplam treatment. The study intends to enroll ten adults with SMA with electrodiagnostic evidence of NMJ transmission defect on repetitive nerve stimulation despite previous treatment with nusinersen (Spinraza®).

Who Can Participate:

The study will enroll genetically confirmed adults (age 18 to 65 years) with 5 q SMA with electrodiagnostic evidence of NMJ defects despite at least ten months of nusinersen (Spinraza®) treatment to evaluate NMJ transmission following 12 months of treatment with risdiplam (Evrysdi®). Age 18 to 65 years.

Where:

The Ohio State University Medical Center, Columbus, Ohio

How to Participate:

Interested people can contact: Gia Cinkay at 614-366-9050 or [email protected] or Marco Tellez, CCRP, 614-688-7837, [email protected].

What:

Two telephone/video interviews to discuss your experience of SMA to help understand what an important change in physical ability would be.

Who Can Participate:

Caregivers (residing in the U.S. and U.K.) of SMA patients and adults with SMA who are aged 12-30 (residing in the U.S. and U.K.)

How to Participate:

To learn more, please contact Sophie Wallace at +44-1625-57-8200, [email protected]; See additional information.

The Newborn Screening Registry (NBSR) is an online registry established to help the SMA community (e.g., individuals with SMA, families, clinicians, and researchers) learn more about SMA, better manage symptoms over time, and develop new treatments. We invite you to participate by clicking the link below and following the instructions to provide Cure SMA with information about your child.

The NBSR is a Cure SMA program. Cure SMA is the sole guardian of NBSR and its material. NBSR information can be used to improve clinical care and to support new therapy development. Registries in other diseases also have a long history of success in moving research and clinical care forward.

Access the Newborn Screening Registry portal to receive additional information or to register your child.

What:

An online survey to understand the SMA population at the time of diagnosis. The survey should take about five minutes.

Who Can Participate:

Caregivers (residing in the U.S.) of SMA patients and adults with SMA who were diagnosed in the last year

How to Participate:

Please click here to complete a survey.

What:

Spinal cord stimulation (SCS) has shown remarkable efficacy in restoring motor function in people with spinal cord injury by recruiting afferent input to enhance the responsiveness of spared neural circuits to residual cortical inputs. This pilot will test if SCS can show evidence to improve motor deficits in people with Type 3 or 4 SMA.

Who Can Participate:

You are eligible for this study if you: (a) have a genetic diagnosis of SMA (b) are diagnosed as having SMA Type 3 or Type 4 (c) are between the ages of 16 and 64 (d) able to stand independently for ≥ three seconds.

How to Participate:

To learn more, please contact Sydney Bader at 412-648-4196, [email protected] or Amy Boos at [email protected]; See additional information.

What:

The purpose of this research project is to examine the influence of SMA type and self-stigma of disability status on the ability to cope in a positive manner for individuals with SMA. You can choose to participate in this study in two ways: through completion of the survey and/or by engaging in a semi-structured interview. The survey consists of multiple choice and Likert scale questions to measure your coping abilities/strategies as well as how much stigma you experience with respect to your disability status.

Who Can Participate:

Adults affected with SMA, age 18 or older. Participants must have access to a computer/laptop to complete the survey and a webcam if they choose to be interviewed. Participants will be entered into a lottery to win a $25 Starbucks e-gift card.

How to Participate:

Instructions for the optional interview are found within the survey. Click here to begin the survey!

What:

This study will involve a one hour virtual interview to learn about the diagnostic journey and psychological impact experienced by families with a child diagnosed with SMA through state implemented newborn screening.

Who Can Participate:

Parents and caregivers of an individual diagnosed with SMA through Newborn Screening. One caregiver per household is requested to participate. Families who had prenatal testing in addition to Newborn Screening are also eligible to participate.

How to Participate:

Please contact Allison Mazzella at [email protected] or at 973-477-6217.

What:

The Department of Physical Therapy and Human Movement Sciences at Northwestern Feinberg School of Medicine wants to learn more about how children and adolescents with spinal muscular atrophy (SMA) participate in aerobic and physical activity and understand what is important to them.

Who Can Participate:

A parent of a child with spinal muscular atrophy between three and 18 years of age.

How to Participate:

To learn more about the research study, click here.

What:

The Department of Physical Therapy and Human Movement Sciences at Northwestern Feinberg School of Medicine wants to learn more about how adults with spinal muscular atrophy (SMA) participate in aerobic and physical activity and understand what is important to them.

Who Can Participate:

To participate you must be at least 18 years of age and have SMA. You must be able to speak/read English and live in the United States.

How to Participate:

To learn more about the research study, click here.

What:

The Department of Physical Therapy and Human Movement Sciences at Northwestern Feinberg School of Medicine wants to learn more about how those with SMA might be motivated to participate in exercise using “gaming” in a new at home exercise activity. The study will be an interview that will take place over Zoom and should take about 30 minutes to complete.

Who Can Participate:

A parent of a child with spinal muscular atrophy between five and 17 years of age. Must be able to speak English.

How to Participate:

To learn more please contact the study coordinators at: [email protected] or [email protected].

What:

This research project is a questionnaire study which will ask parents/guardians of individuals with SMA about their children’s communicative abilities by a phone or zoom interview. The questions will be based on medical history and the Inventory of Potential Communicative acts (IPCA). This study has been designed in order to understand how to best serve and support the use of functional communication systems for individuals diagnosed with SMA.

Who Can Participate:

Parents/guardians with children with SMA (any type) who are aged 18 months and older. Participants will be entered into a drawing to receive a $25 Amazon gift card.

How to Participate:

Please contact Dr Cheryl Ostryn on [email protected] with “Interview Study” as the Subject Line.

What:

The Super Suits team at the University of Delaware (UD) has a new study aimed to help researchers understand the daily challenges faced by individuals with arm movement impairment. These challenges can be related to personal care activities, activities promoting independence, or social activities. Participants in this study will be asked a short series of questions. Questions will cover challenges with daily activities, device use, and clothing preferences. Interviews can take place via Zoom, at University of Delaware, at your home, or at a convenient location. The interview should take approximately 60 minutes.

Who Can Participate:

Children three through 16 years old with arm movement impairments and the potential to control basic assistive technology and/or caregivers of those individuals.

How to Participate:

If you would like more information about the project, please contact Bai Li, [email protected], at UD (302) 268-5629. If you have any questions about the rights of research participants, please contact UD at (302) 831-2137.

What:

Researchers from the Department of Neurology at the University of Rochester are currently conducting a study looking at parent/caregiver perspectives on newborn screening for spinal muscular atrophy (SMA) and parental decision making in the treatment of children diagnosed with SMA.

Who Can Participate:

To be able to participate in this study, you must be the parent or caregiver of a child who was diagnosed with SMA on newborn screening. Caregivers of children who were diagnosed with SMA outside of newborn screening are excluded from this study.

How to Participate:

This study will be conducted through an online survey and is anticipated to only take 10-15 minutes to complete. Please click here to complete the survey.

What:

A study to improve the understanding of prenatal SMA and establish a biomarker of disease that will guide the future of fetal therapy. The study will compare phosphorylated neurofilament chain (pNF) levels, a promising biomarker of SMA disease activity, in pregnant women carrying fetuses with genetically diagnosed SMA to pNF levels in pregnant women whose fetuses do not have SMA. Bio-samples will be collected at the time of medically indicated phlebotomy procedures or at delivery.

Who Can Participate:

Women who are pregnant with fetuses with genetic confirmation of SMA, or at risk for SMA due to parental carrier screening.

How to Participate:

Interested participants can email Dr. Caitlin Baptiste at [email protected] or by phone at (914) 462-1004.

What:

This study will focus on the pathophysiological underpinnings of reduced exercise capacity and fatigue in ambulatory patients with spinal muscular atrophy (SMA). There has been laboratory evidence to suggest that the molecular mechanisms underlying mitochondrial biogenesis may be vulnerable to survival motor neuron (SMN) protein deficiency. This is an observational, single visit study including 34 ambulatory SMA patients treated with SMN repletion therapies (risdiplam or nusinersen) for at least six months at enrollment.

Who Can Participate:

Individuals ages eight to 55 years being treated with nusinersen (Spinraza®) or risdiplam (Evrysdi®)

Where:

Columbia University Irving Medical Center, New York, New York

How to Participate:

Interested participants can email Jacqueline Montes ([email protected]).

What:

The primary objective of this research protocol is to study and follow the course of motor neuron loss in individuals with spinal muscular atrophy (SMA) using the electrophysiological technique of motor unit number estimation (MUNE). This study is based on the hypothesis that the electrophysiological technique of motor unit number estimation (MUNE) and compound muscle action potential (CMAP) provide sensitive indicators to assess the severity and progression of disease in adults with SMA.

Who Can Participate:

Individuals ages 17 to 70 receiving or not receiving Spinraza®

Where:

The Ohio State University Medical Center, Columbus, Ohio

How to Participate:

Interested people can contact: Julie Agriesti, MACPR, CCRC, 614-685-5815, [email protected] or Sarah Heintzman, RN, 614-293-4973, [email protected].

Recruitment for Research and Clinical Trials

When appropriate, we seek to connect researchers with potential study participants using our large network of individuals with SMA and families/caregivers.

Cure SMA has chapters located throughout the U.S. and nearly 170,000 members and supporters. As part of our support in furthering breakthrough research, Cure SMA:

  • Helps researchers connect with potential study participants using our large network of individuals with SMA and families/caregivers for various study activities such as, but not limited to, online surveys, focus groups, telephone interviews, and clinical trials
  • Provides feedback on drafted protocols and surveys at the request of the investigator
Reserch-Drug-Discovery_2015Ma_Yongchao

If you are interested in recruiting participants for a clinical trial or other project, please send an email to [email protected] and put “research recruitment” in the subject line. A member of our Research Team will contact you with more information.

Please note, Cure SMA complies with all proper regulations regarding confidentiality and sharing of medical data.

Scroll to Top