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