By participating in a clinical trial or research study, you will help the scientific and research communities accelerate therapy development for 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, to develop new treatments, and to improve 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!

Transfers of Care in the SMA Community: Patient Perspectives of Adult and Pediatric Care Settings

What: This project explores experiences with transition planning and transfers of care between pediatric and adult care settings. Participation includes a 15 min online survey that asks about patient autonomy in different care settings, access to non-SMA-related care, and barriers to transfers of care.
Who Can Participate: You are eligible for this study if you: (a) Have a genetic diagnosis of SMA (b) Are 18 years or older (c) Can understand English without the use of a translator (d) Live in the US
How to Participate: Participation in this survey will enter you in a raffle for the chance to win one of four $50 Amazon gift cards. This research is being conducted by Jesika Smith, a second-year genetic counseling student from Brandeis University, overseen by Cassie Buck, MS, CGC. To participate in this study, please follow this link and fill out the survey: https://brandeis.qualtrics.com/jfe/form/SV_24YnAuBL8EZRI3A

Survey of Bowel and Bladder Symptoms in Individuals with SMA Compared to Household Members

What: Researchers from the division of Pediatric Neurology at the University of Iowa are seeking to better understand bowel and bladder symptoms in patients with spinal muscular atrophy (SMA) compared to household members without SMA.
Who Can Participate: People with SMA and their household members not diagnosed with SMA are eligible to take the survey. Maximum of two people with SMA and two people without SMA per household. All participants must be at least 4 years of age.
How to Participate: Please click on the following link to learn more about the research study and complete the survey: https://redcap.link/SMAuroSurvey

Barriers Experienced Accessing Mental Health Services

What: The purpose of this study is to learn about barriers people with Spinal Muscular Atrophy (SMA) experience when accessing mental health services. This research would help clinicians understand the specific challenges that prevent people with SMA from receiving services or seeking them out. By hearing about common barriers from the SMA community, clinicians will be able to use this critical information to make services more accessible.
Who Can Participate: Adults affected with SMA age 18 or older. Participants must be a resident of the United States. Participants will have the chance to wine one of $25 Visa gift cards.
How to Participate: If you would like to be a part of this study, please go to the following link: https://alliant.qualtrics.com/jfe/form/SV_a9tLXee4UZhweqO

Stigma and Coping Skills in Adults with Spinal Muscular Atrophy (SMA)

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 my study in two ways: through the completion of my 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: Please click on the following link to complete a survey. Instructions for the optional interview are found within the survey. Click here to begin the survey!

The Development of a Patient and Caregiver-Reported Measure Designed to Capture Typical Performance for Mobility and Daily Activities Tasks (the “SMA PRO”)

What: Researchers at Boston Children’s Hospital are developing a measure designed to better understand a person’s abilities at home, school and/or work for mobility and daily tasks of living. Participants will complete an online survey that includes items and illustrations of daily tasks like (“turning a power wheelchair on and off” or “moving from lying down to sitting up in bed”).
Who Can Participate: Caregivers of a child or adult with SMA (any age), as well as individuals living with SMA who are 12 years of age and older.
How to Participate: Please click on the following link to complete the survey: https://redcap.link/SMAPro

Understanding Parents’ Experiences with Newborn Screening and Treatment

What: Researchers at Nationwide Children’s Hospital are hoping to better understand parents’ experiences with newborn screening and treatment. Participants will complete practices for sharing positive newborn screening results and improve family counseling for newborn diagnosis and treatment.
Who Can Participate: Parents of a child with spinal muscular atrophy and the child has received IV gene replacement therapy. Participants will receive a $15 gift card for completing the survey.
How to Participate: Visit https://bit.ly/SMAStudyNCH to see if you are eligible to participate.

Study of Medication Packaging

What: This n (GFOS), for patients who are unable to, or have difficulty swallowing a larger capsule. Participants will be mailed study materials and will be required to send back.
Who Can Participate: Adults affected with SMA between the ages of 21-64 and residents of the US. Participants must have access to a computer/laptop with a webcam. Participants will be given a $150 gift voucher for their participation.
How to Participate: Please contact Diana Lu at [email protected] or at 201-322-5125.

Newborn Screening in Spinal Muscular Atrophy: Redefining the First Year of Life for Patients and Families

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.

Survey on Access to SMA Treatment

What: This survey aims to capture the experience of SMA patients and caregivers regarding access to treatment. The questions have been designed to better understand how patients are diagnosed with SMA and the treatments received. Respondents are asked questions about their experience with insurance and
coverage decisions for treatment, whether they have had to pay out-of-pocket expenses, and if they are receiving assistance to offset any treatment-related costs.
Who Can Participate: Caregivers of SMA patients and adults with SMA are invited to participate. All participants will receive a $25 gift card following completion of their survey.
How to Participate: Please click on the following link to complete a survey: https://www.surveymonkey.com/r/CureSMAII?PatientType=[PatientType_value]

Investigating Quality of Life and Lived Experience of Adolescents with Spinal Muscular Atrophy

What: This objective of this survey is to gain insight into what life is like for adolescents with SMA.
Who Can Participate: Individuals with SMA, ages 13-18, are invited to participate.
How to Participate: Please click on the following link to complete a survey: https://forms.office.com/r/yATwkT2xr0

Stakeholder Perceptions Regarding Participation in Aerobic Activity in Children and Adolescents with Spinal Muscular Atrophy

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 3 and 18 years of age.
How to Participate: To learn more about the research study, click the following link: https://redcap.link/Exercise_in_SMA

Stakeholder Perceptions Regarding Participation in Aerobic Activity in Adults with Spinal Muscular Atrophy

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 the following link: https://redcap.link/exerciseinadultswithSMA

Interview on Gaming and Exercise for Parents and Their Children with SMA

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 5 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]

SMA Treatment Decision Making

What: Michigan Medicine, in the Departments of Physical Medicine & Rehabilitation and Pediatric Neurology, are seeking to better understand how caregivers approach treatment decisions for their children with SMA so that health care professionals can better counsel families in clinic. You will be entered to win a
$50 gift card for your participation.
Who Can Participate: Parent or legal guardian of a child with SMA. Child must be between the ages of 0-18 with a genetically proven diagnosis of SMA. Participants must be able to read and respond to written questions in English and reside in the United States.
How to Participate: Please use the following link to complete a survey: https://umich.qualtrics.com/jfe/form/SV_0HwpVcoDTEy7ECa

Communication Abilities of Individuals Diagnosed with Spinal Muscular Atrophy

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.

Interviewing Individuals with Motor or Sensory Impairment About Challenges with Daily Activities

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 3-16 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.

Perspectives on Newborn Screening

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. https://redcap.urmc.rochester.edu/redcap/surveys/?s=J9RLNEHKYK

Development of neurofilament as a biomarker of fetal spinal muscular atrophy

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.

Newly Diagnosed Survey

What: An online survey to understand the SMA population at the time of diagnosis. The survey should take about 5 minutes.
Who Can Participate: Caregivers (residing in the US) of SMA patients and adults with SMA who were diagnosed in the last year.
How to Participate: Please visit the following website to complete a survey: http://events.curesma.org/ndsurvey