Researchers at the National Institutes of Health (NIH), in Bethesda, Maryland, seek individuals with CLN3 (Juvenile Neuronal Ceroid Lipofuscinosis, Batten disease) and their family members to participate in a research study. CLN3 is a neurodegenerative disease, with typical onset seen in children. Individuals with CLN3 may have symptoms such as visual impairment/blindness, seizures, personality and behavioral changes, dementia and loss of motor skills. The main purpose of this research study is to identify markers of disease to better detect, monitor, and understand CLN3.
As part of the ongoing CLN3 natural history study, participants will be recruited to the DBS study with the aim of identifying biomarkers that can aid in CLN3 screening and diagnosis at birth. The researchers believe that an early diagnosis of CLN3, prior to the onset of symptoms, will facilitate early intervention and treatment when available.
The study is noninvasive and is considered minimal risk, eliminating the need for an in-person visit to the NIH. Participants will be consented online or in person to obtain permission to request the newborn spot card collected at birth from the state. Recruitment is set to begin in the highlighted states of California, Maryland, and New York.
Efforts are underway to secure approvals from other states, allowing for the expansion of recruitment to additional regions. The researchers welcome assistance in sharing information about this new study with families and other CLN3 community organizations and contacts.
Please refer to this flyer for more details and contact information