Research Study Opportunities

What:

The Columbia University Irving Medical Center (CUIMC) Programs in Physical Therapy are conducting a study to assess the feasibility of a patient-reported outcome measure (PRO) in capturing perceived physical fatigability in individuals with SMA.

Who Can Participate:

Eligible participants include:

• At least 12 years old
• Diagnosed with 5qSMA (Any Type)
• Able to understand and complete a rating scale for activities in question, independently.

How to Participate:

Click here to access the survey.

Please contact Dr. Jaquelin Montes at 212-305-8916 or [email protected] if you have any questions or have trouble accessing the survey.

What:

Cure SMA wants to understand the diagnostic journey, time to treatment, and motor outcomes over time for newly diagnosed individuals (diagnosed in the last 3 years) with SMA.

Who Can Participate:

Eligible participants include:

• Primary caregivers of newly diagnosed individuals with 5q SMA that currently reside in the United States or
• Newly diagnosed individuals that are 18+ years of age with 5q SMA that currently reside in the United States

How to Participate:

Please email the first and last name of you and the individual with SMA as well as the year of SMA diagnosis to [email protected] if interested.

What:

Researchers at the Children's Hospital at Montefiore/Albert Einstein College of Medicine would like to understand the different experiences parents and families have when given a newborn screen (NBS) positive or uncertain finding. The knowledge gained will help researchers understand the benefits and harms of NBS and provide information that could improve the system. Eligible caregivers will participate in a 1-2 hour interview over Zoom, and a brief pre-interview demographic survey and receive a gift card for their time.

Who Can Participate:

English-speaking, U.S. residents and primary caregivers of children who were born in the United States and received a positive or uncertain newborn screening result for SMA since May 2021.

How to Participate:

 Please visit https://redcap.link/parent_voices to complete a short eligibility survey, or email the study team at [email protected].

What:

Researchers at Stanford Medicine want to understand more about how bulbar function (talking, swallowing, chewing and breathing) impact those living with SMA by asking individuals with SMA and/or their caregivers to share personal experiences and contribute to future SMA care and treatment.

Who Can Participate:

Individuals with SMA and/or their Caregivers are invited to participate in an online survey to learn more about day-to-day experience with bulbar function.

How to Participate:

Click on the following link to learn more and get started: https://redcap.stanford.edu/surveys/?s=HCEHJDMAYKM7JWNF or contact Sally Dunaway Young ([email protected]) with any questions you may have.

What:

The MARLIN Study is an observational study aimed at understanding the fertility experiences of men diagnosed with spinal muscular atrophy (SMA) who are actively attempting to conceive or have conceived in the past and are taking or have taken risdiplam (Evrysdi®). The study consists of questionnaires to be completed remotely (online). It does not include any treatments or procedures such as laboratory tests or doctor visits.

Who Can Participate:

To be considered for this study, participants must be: a male between 18 and 50 years of age, diagnosed with SMA, currently taking risdiplam (Evrysdi®) OR previously took risdiplam (Evrysdi®), actively trying to conceive OR conceived in the past (during or after taking risdiplam (Evrysdi®)). Female partners/surrogates/gestational carriers of the male participant also have the option to participate in this study.

How to Participate:

If you are interested in participating in the MARLIN Study, please provide your contact information via this MARLIN Study website or call 1-855-662-7546 (1-855-6MARLIN) Monday-Friday, 8am- 5pm ET, so that a member of the study team can follow up with you.

What:

The effects and/or the risks of Evrysdi® (risdiplam) on the health of an unborn baby are unknown to date. The risdiplam pregnancy study aims to collect information that could support women with SMA and their healthcare providers in making more informed decisions about treatment with risdiplam during pregnancy and breastfeeding in the future.

Who Can Participate:

You may be able to take part in this study if you have received  Evrysdi® (risdiplam) for SMA less than 1 month before getting pregnant or at any time during your pregnancy. You can participate either while being pregnant or after the pregnancy. Participants are not required to take any additional or investigational medications other than the medications that they already take as part of their routine care, and do not have to perform any extra tests or visits for the study.

How to Participate:

Please find more information on the study website www.evrysdipregnancyregistry.com  and get in touch with the coordinating center either by phone at 833-760-1098 or email: [email protected].

What:

Researchers at Arizona State University want to learn how to support parents not only in their unique experience of parenting children with SMA but also to protect and promote parent mental health and positive child development. Parents of children with SMA will be asked to complete a 60-minute interview about their parenting experiences. Participants will be compensated with a $50 Amazon gift card for being a part of the study.

Who Can Participate:

Parents with a child with SMA between the ages of 0 to 25. Parents must also be 18 years or older and have English fluency.

How to Participate:

Please email Isabella Andrade at [email protected] to learn more.

What:

Researchers at University of Michigan want to track infant development with SMA who received gene therapy over the first 18 months of life to identify their distinct individual trajectories of development.

Who Can Participate:

Caregivers of an infant less than 12 months of age that received gene therapy under the age of 2 months. Caregivers must be English speaking and 18 years of age or older. Participants will receive a reloadable gift card of $20 per survey.

How to Participate:

Email the study team at [email protected] or text at 734-274-9517

What:

We are inviting people with lived experiences with any Type/severity of SMA to discuss their views on genetic therapies. Participants will receive $50 gift card for their time.

Who Can Participate:

You are eligible for this study if you: (a) are 18 years or older (b) speak English (c) have lived experiences with SMA.

How to Participate:

For more information, please visit the following website: https://www.pasage-study.org/.

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.