Oral Presentation International Congress on Neuronal Ceroid Lipofuscinoses 2025

Defining Meaningful Research Priorities in the Neuronal Ceroid Lipofuscinoses: A Collaborative Stakeholder Approach (127773)

Erika F. Augustine 1 , Nadia Moore 1 , Nicolas J. Abreu 2 , Elizabeth Berry-Kravis 3 , An N. Dang Do 4 , Amy Fenton Parker 5 , Suzette James 5 , Noah Siedman 5 , Jennifer Vermilion 6 , Amy Vierhile 6 , Raymond Y. Wang 7 , Ineka T. Whiteman 5 , Batten Disease Clinical Research Consortium 8
  1. Kennedy Krieger Institute, Baltimore, MARYLAND, United States
  2. NYU Grossman School of Medicine, New York, United States
  3. Rush University Medical Center, Chicago, Illinois, United States
  4. Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, United States
  5. Batten Disease Support, Research, and Advocacy Foundation, Columbus, Ohio, United States
  6. University of Rochester Medical Center, Rochester, New York, United States
  7. Children's Hospital of Orange County, Orange, California, United States
  8. Batten Disease Clinical Research Consortium, Baltimore, MD, United States

The neuronal ceroid lipofuscinoses (NCLs) are collectively among the most prevalent childhood neurodegenerative disorders. The 13 NCL genetic subtypes share hallmark symptoms: blindness, dementia, epilepsy, and motor dysfunction. Symptom progression profoundly impacts the lives of affected individuals and their families, and for most, results in severe disability then premature death. Disease-modifying therapy is available for one NCL subtype, but is not curative (cerliponase alfa, CLN2 disease). For the remaining NCLs, treatment is limited to symptomatic and supportive care. Empirical evidence is lacking to guide NCL management. There is an urgent need to establish national priorities across the basic, translational, and clinical sciences to tackle the most pressing concerns of the NCL community.

We recently established the Batten Disease Clinical Research Consortium (BDCRC), an academic network designed to support collaboration and advance research in the NCLs. The BDCRC sought input from NCL community stakeholders to inform its future directions.

Using a modified James Lind Priority Setting Partnership approach, the BDCRC engaged stakeholders in two phases (May–July 2024). In Phase 1, we solicited unanswered research questions about the NCLs. Respondents (n=189) contributed 475 individual free-text research questions.  We consolidated responses into 54 unique questions, based on clinical, methodological, or biological knowledge gaps in the field. In Phase 2, respondents (n=114) prioritized these questions, selecting the 10 they deemed the highest priority, in a second online survey. The ‘top NCL research priorities’ were those endorsed by at least 25% of respondents, leaving 12 key topics.

NCL research priorities focus on treatments, biomarker development, understanding disease course, early diagnosis, strategies to maintain skills and function, and building knowledge from related or similar diseases. These priorities provide a roadmap to unite stakeholders around the most meaningful research gaps to the collective NCL community.

  1. Opar A. Lind guidelines offer a checklist for research priorities. Nature Medicine. 2010; 16(6): 620.