Research

For more than two decades, the University of Rochester Batten Center (URBC) has been a leader in Batten disease research. Our overall research mission is to better understand the clinical course of Batten disease, improve the quality of life for affected individuals and families, develop meaningful clinical outcome measures, and accelerate the development of new therapies.

The URBC brings together expertise from across the University of Rochester Medical Center, including Child Neurology, Neuropsychology, Ophthalmology, Neurogenetics, Neuromuscular Medicine, Neuroscience, Biostatistics, and the Intellectual and Developmental Disabilities Research Center (IDDRC). These collaborations allow us to approach Batten disease research from multiple perspectives and develop innovative approaches to clinical care and treatment development.

The Unified Batten Disease Rating Scale (UBDRS)

The University of Rochester Batten Center developed the Unified Batten Disease Rating Scale (UBDRS), one of the most important clinical outcome measures used in Batten disease research worldwide.

Originally developed for CLN3 disease, the UBDRS measures key symptoms shared across Batten disease subtypes, including motor function, behavior, mood, cognition, seizure burden, and daily functioning. The scale allows clinicians and researchers to track disease progression over time and evaluate how potential therapies may impact disease symptoms.

The UBDRS has played a major role in natural history studies, clinical research, and therapeutic development in Batten disease and continues to be used internationally in research and clinical care.

Research Collaboration Across the University of Rochester

The URBC collaborates closely with researchers and programs throughout the University of Rochester to advance Batten disease science and therapeutic development.

This includes partnerships with the University of Rochester Intellectual and Developmental Disabilities Research Center (IDDRC), where investigators are working to better understand neurodevelopment, neurodegeneration, biomarkers, communication, behavior, vision loss, and novel therapeutic strategies relevant to Batten disease and related neurologic disorders.

Researchers across the university contribute expertise in neuroscience, genetics, imaging, digital health technologies, clinical trial design, neurobehavioral assessment, and translational therapeutics.

Current & Upcoming Research

Batten Disease Clinical Research Consortium (BDCRC) Natural History Study

The University of Rochester Batten Center is a member of the newly established Batten Disease Clinical Research Consortium (BDCRC), a national NIH-funded research network dedicated to advancing treatments for Batten disease.

The URBC is leading the consortium’s longitudinal natural history study, which will follow individuals with multiple forms of Batten disease over time to better understand disease progression and improve future clinical trial readiness.

This study will incorporate innovative digital approaches to evaluate gait, communication, and patient-centered outcomes while helping develop novel observer-reported outcome measures for individuals with Batten disease.

Natural History Research

Since 2002, families from around the world have participated in URBC natural history research studies designed to better understand how Batten disease progresses and how symptoms affect quality of life and daily functioning.

These studies use the UBDRS and other assessments to examine disease progression, neurobehavioral features, cognition, movement, communication, and factors that may influence disease severity.

Neurobehavioral & Cognitive Research

URBC investigators study the cognitive, emotional, behavioral, and psychosocial impacts of Batten disease to better understand how these symptoms affect affected individuals and families and to improve supportive care strategies.

Sleep Research

Current sleep research studies are examining sleep dysfunction in CLN2 and CLN3 disease and how sleep difficulties affect both affected individuals and family well-being.

Clinical Trial Readiness & Therapeutic Development

A major focus of URBC research is improving clinical trial readiness and helping prepare the field for future disease-modifying therapies, including gene-based and other emerging therapeutic approaches.

Past Research Contributions

Over the past two decades, URBC investigators have contributed to important discoveries related to disease progression, sex differences in Batten disease, neurobehavioral symptoms, quality of life, clinical outcome measurement, remote assessment approaches, and therapeutic development.

Research conducted at the URBC has helped shape how Batten disease is studied internationally and has provided critical data used in clinical trials and future treatment planning.

Research FAQs for Families

Do I need to participate in research to receive clinical care?

No. Participation in research is completely voluntary and is not required to receive care at the URBC.

Will research participation affect future clinical trial eligibility?

In most cases, participation in observational or natural history research does not prevent participation in future clinical trials.

Do all studies require travel to Rochester?

No. Some studies include remote or virtual participation options depending on the study design.

Are there direct medical benefits to participating in research?

Many studies do not provide direct medical benefit, but participation helps researchers better understand Batten disease and improve future treatments and care.

How is my family’s information protected?

Research studies use secure systems and study identifiers to help protect participant privacy and confidentiality.