New Research Paper on the Caregiver Assessment of Pelizaeus-Merzbacher Disease

Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact has been published with support from the PMD Foundation. The article from Ionis Pharmaceuticals was first published online on February 6, 2023, in Volume 38, Issue 1-2 of the Journal of Child Neurology.

The article is based on the first survey of caregivers of individuals with Pelizaeus-Merzbacher disease. Investigating the presenting symptoms, the study identified the path to diagnosis and the impact of the symptoms and needs that future treatment should address. 

"It’s crucial that the pharmaceutical companies and the medical community learn firsthand, from a caregivers perspective, the daily challenges that present themselves for those affected by PMD,” said PMD Foundation Vice-Chair Jeremy Holmes. “Knowledge is certainly power, and it is great that this rare disease has received much attention as we progress towards a viable therapeutic.  In this case, caregivers, such as myself, are the much-needed voice for PMD."

One hundred participants completed the survey, which acknowledged the majority of Pelizaeus-Merzbacher disease symptoms manifest before two years of age and commonly include deficits in gross and fine motor skills, speech, and communication. 

 "Whenever I'm asked to participate in research for PMD, I always choose to do so,” said PMD Foundation Secretary Paul Erena. “As a parent, I feel like it's my responsibility to help my son in any way I can, and furthering research is about as important as it gets for me. This project asked a number of us what it was actually like to raise our kids, and I think that is so important because here we all are, on the front line, every day. We know this disease, and we know our kids. We are experts in caring, in being exhausted, in being heartbroken, in being joyful in the little things. I'm so glad someone has asked us what it's like."

Within the study, caregivers rated difficulty crawling, standing, or walking as the “most bothersome” symptoms due to Pelizaeus-Merzbacher disease. Constipation and difficulty with sleep, manual dexterity, and speech and communication were rated nearly as high. The most important treatment goals for caregivers were improved mobility and communication. 

The survey findings present a caregiver perspective of the impact of symptoms in Pelizaeus-Merzbacher disease. These benchmarks will provide helpful guidance to affected families, physicians, and drug developers on the path to diagnosis and the unmet medical needs of this patient population.

This landmark study conducted by Ionis Pharmaceuticals with the collaboration of the PMD Foundation is a major accomplishment for PMD Research. The findings will be available to anyone researching PMD around the world. 

Moore KM, Wolf NI, Hobson G, et al. Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact. Journal of Child Neurology. 2023;38(1-2):78-84. doi:10.1177/08830738231152658

To purchase a copy of the research paper, visit https://journals.sagepub.com/doi/10.1177/08830738231152658.