Cure SMA has awarded a $150,000 research grant to Chad Heatwole, MD, at the University of Rochester, for his project, ” Development of a Clinically Relevant Outcome Measure for Pediatric SMA Therapeutic Trials.”

Dr. Heatwole and his team are working to develop SMA-specific patient reported outcome measures for use in SMA clinical trials and clinics. The FDA has identified disease-specific patient reported outcome measures as a valid, responsive, and potentially ideal mechanism to measure therapeutic change during clinical trials. When properly validated, patient reported outcome measures can support drug labeling claims and further encourage pharmaceutical company interest in SMA therapeutic development. Dr. Heatwole’s group has previously developed disease-specific instruments for multiple populations with neuromuscular disease. One such instrument, the Spinal Muscular Atrophy Health Index (SMA-HI), was developed and validated using FDA guidelines for SMA patients age 8 to 85. This instrument is currently being utilized to measure therapeutic response in clinical trials.

Currently, there is no properly validated, disease-specific, observer-reported outcome measure for infants and children (under 8 years of age) with SMA. In preparation for additional studies involving this population, it is imperative to bolster clinical trial infrastructure and to identify valid, responsive, and reliable outcome measures for this population. The proposed research will utilize caregiver and patient interviews and a cross-sectional study to identify those symptoms that are most relevant and important to pediatric and infant SMA patients. Next, Dr. Heatwole and his team will develop and validate a reliable, responsive, and patient-meaningful observer-reported outcome measure for use in SMA clinical trials. Once completed, they will implement this instrument in SMA clinical trials and clinics to track meaningful response to treatment in this population.

Meet Dr. Heatwole

Who are you?

I am a neurologist and clinical-researcher who has dedicated my career to helping adults and children with neuromuscular disorders. I enjoy taking care of patients in my neuromuscular subspecialty clinic and conducting research related to promising experimental therapeutics and the development of patient-centered clinical trial infrastructure. I have worked at the University of Rochester for 17 years and have fellowship training in neuromuscular therapeutics and electrophysiology. I currently serve as the Associate Director of the Center for Health and Technology.

How did you first become involved with SMA research?

After taking care of SMA patients for many years, I began focusing on SMA research in 2015 as a result of receiving research support from Cure SMA. Since that time, I have enjoyed being a part of the global SMA research community as we strive for effective therapies for patients with this condition.

What is your current role in SMA research?

My group is dedicated to improving the clinical trial infrastructure of SMA. Using a large cross-sectional study of 359 adults with spinal muscular atrophy we identified what symptomatic issues are most important to this this population. We have subsequently utilized this data to develop an optimal patient-reported outcome measure to serially measure clinically important multifactorial changes in patient burden during current and future clinical trials. The goal of this instrument is to help ensure the benefit of future therapies to patients with SMA, assist in FDA drug labeling claims, and help encourage innovations in SMA therapeutics.

What do you hope to learn from this research project?

Our objective is to develop, validate, and utilize a reliable, responsive, and patient-meaningful disease-specific observer reported outcome measure for SMA clinical trials and monitoring.

How will this project work?

This research will: 1) Utilize a large cross-sectional study to identify those symptoms that are most important to infants and children with SMA; 2) Develop and validate a reliable, responsive, and patient-meaningful observer-reported outcome measure for SMA patients; and 3) Implement this instrument in SMA clinical trials and clinics as a means to track patient-meaningful responses to treatment.

What is the significance of your study?

At the completion of our work, the SMA research community will have a valid outcome measure to aid in therapeutic assessment and encourage therapeutic development for pediatric SMA patients.

Basic Research Funding

This grant to Dr. Heatwole was funded through the Cure SMA Industry Collaboration* and is part of $1,325,000 in new basic research funding that we’re currently announcing.

Basic research is the first step in our comprehensive research model. We fund basic research to investigate the biology and cause of SMA, in order to identify the most effective strategies for drug discovery. We also use this funding to develop tools that facilitate SMA research.

*The SMA Industry Collaboration is a multi-faceted partnership that brings together pharmaceutical companies, Cure SMA, and other nonprofit organizations, to share information, ideas, and data. The SMA Industry collaboration works together to address scientific, clinical and regulatory topics that are critical for the broader SMA community. Current members include Astellas, AveXis, Biogen, Cytokinetics, Genentech/Roche, and Novartis.

Past Announcements

$150,000 to Bakri Elsheikh, MD

$50,000 to Rashmi Kothary, PhD

$150,000 to Robin Parks, PhD 

$150,000 to Brunhilde Wirth, PhD

$150,000 to Umrao Monani, PhD

$150,000 to Charlotte Sumner, MD

$75,000 to Robert Kalb, MD

$150,000 to Allison Ebert, PhD