Angela Schulz

Dr. Angela Schulz is a Professor in the Department of Pediatrics at University Medical Center Hamburg-Eppendorf, specializing in neurodegenerative disorders, particularly Neuronal Ceroid Lipofuscinosis (NCL), with a focus on CLN2 disease (late-infantile neuronal ceroid lipofuscinosis). She has established herself as a leading researcher in the field of Batten disease, contributing extensively to the understanding and treatment of this rare genetic disorder.

Her research interests center on the clinical aspects of CLN2 disease, including diagnosis, disease progression, and therapeutic interventions. Dr. Schulz has been instrumental in developing and evaluating enzyme replacement therapy using cerliponase alfa, which has become a standard treatment for CLN2 disease. Her work spans multiple disciplines, including pediatric neurology, neuro-ophthalmology, and clinical trial methodology for rare diseases. She has contributed to the development of clinical assessment tools like the Hamburg Best Practice Guidelines for ICV-Enzyme Replacement Therapy in CLN2 Disease and has investigated various biomarkers for disease progression.

Analysis of her recent publications reveals a strong focus on clinical outcomes of cerliponase alfa treatment, with particular attention to biomarkers for disease progression (including MRI volumetry and ophthalmological markers), quality of life measurements, and expanding treatment applications to atypical disease presentations. Her research demonstrates a comprehensive approach to understanding CLN2 disease from diagnosis through long-term management, with increasing attention to patient and family perspectives.

Dr. Schulz has been actively involved in numerous international clinical trials and has contributed to the development of diagnostic guidelines and management strategies for various forms of NCL. Her work has appeared in high-impact journals including The Lancet Neurology, New England Journal of Medicine, and multiple specialty journals in neurology, pediatrics, and ophthalmology.

She has established collaborative networks across multiple institutions internationally, working with researchers and clinicians in the United States, Europe, and beyond to advance understanding and treatment of these rare neurodegenerative disorders. Her research continues to shape clinical practice guidelines for the management of NCL disorders worldwide.