Batten disease clinical research consortium - career enhancement core

The National Institute of Child Health and Human Development awarded $1.530085 million to the Hugo W. Moser Research Institute at Kennedy Krieger, Inc. on September 15, 2025, under Cooperative Agreement U54HD122210 for the Batten Disease Clinical Research Consortium Career Enhancement Core, a sub-program within the National Center for Advancing Translational Sciences (CFDA 93.350).

The award funds two complementary aims. Aim 1 delivers a structured one-year postgraduate fellowship program in neuronal ceroid lipofuscinosis (Batten disease) translational research, supporting one fellow per year with career development activities and a research project paired with mentorship from BDCRC-affiliated faculty. Aim 2 launches educational initiatives for audiences from doctoral students to faculty: a translational research journal club providing open review of recently published manuscripts and webinars addressing key challenges in rare neurodegenerative disorders research, focusing on neuronal ceroid lipofuscinoses and small-sample data analysis. Fellows are expected to attend the BDSRA Foundation's annual Family Conference, prepare at least one manuscript for publication on neuronal ceroid lipofuscinoses, attend the Rare Disease Clinical Research Network annual meeting, and submit at least one research funding application within twelve months of completing the fellowship.

The award extends through August 31, 2030, with place of performance in Maryland. The consortium operates through thirteen major academic medical center sub-recipients, each executing a longitudinal natural history study across all neuronal ceroid lipofuscinosis types, examining digital measures of motor and language performance, and developing a Batten disease caregiver-reported outcome measure. Participating sites include Boston Children's Hospital, University of Texas Southwestern Medical Center, Rush University Medical Center, University of Rochester, New York University School of Medicine, Washington University, University of North Carolina at Chapel Hill, University of Michigan, Research Institute at Nationwide Children's Hospital, Children's Hospital of Orange County, University of Colorado-Denver, The Johns Hopkins University, and Sanford Research. Sanford Research additionally provides biorepository services, CoRDS Registry support, and bioinformatics services through an Administrative Core and leads Project 2, developing and independently verifying biofluid-based biomarkers and biosignature scoring frameworks for neuronal ceroid lipofuscinoses.

Abstract

The neuronal ceroid lipofuscinoses (ncls, batten disease) are collectively the most prevalent childhood neurodegenerative diseases. Despite a growing understanding of the molecular and cellular pathophysiology, too few clinician investigators are conducting NCL translational research. This hinders development of the next wave of diagnostic and therapeutic approaches for these fatal disorders. The batten disease clinical research consortium (bdcrc) career enhancement core aims to prepare the next generation of clinician investigators to lead multidisciplinary, translational research in the ncls. Specifically, we aim to (1) train post-graduate clinician investigators with interests across the translational science continuum, through a structured one-year fellowship program in NCL research, and (2) expose clinical professionals and rare-disease community audiences to multi-modal research training opportunities focused on state-of-the-art diagnostics, management, and research advances in the ncls. In aim 1, the most promising early-career clinician investigators will be recruited and selected from fields critical to innovative translational research in ncls and related disorders. Funding will support career development activities and a research project for one fellow each year. Each fellow will be paired with a bdcrc mentor to complement the existing mentoring team at their home institution. In aim 2, NCL-focused educational initiatives will be launched for audiences ranging from doctoral students to faculty: a translational research journal club to provide an open forum for critical review of recently published manuscripts and webinars covering key challenges and potential solutions in rare neurodegenerative disorders research, focusing on the ncls and small-sample data analysis. These efforts leverage resources and expertise from across bdcrc sites, existing relationships with patient advocacy organizations, and the recent collaborative framework established by the centers of excellence program of the batten disease support, research, & advocacy foundation. The career enhancement core will engage trainees and speakers from a variety of clinical disciplines and institutions. The efforts of the bdcrc career enhancement core align with the rare disease clinical research network's goal to establish and maintain an environment that fosters collaborative, patient-oriented, multi-site, multi-disciplinary research collaborations and career enhancement. The proposed work is directly in line with the commitment by the national institutes of health to develop researchers that are trained in the rigorous conduct of science, and possess the skills needed to thrive in an ever-changing research landscape.