Batten Natural History Study
Purpose: The Unified Batten Disease Rating Scale (UBDRS) was developed to help us learn about how Batten disease progresses. Many families participate in the UBDRS study year after year. This helps us to track symptoms of Batten disease over time. The UBDRS helps us learn which symptoms may lead to disability and which factors may be related to fewer symptoms and/or less disability.
Who can Participate: Individuals with ALL FORMS of Batten disease and their families are eligible to participate.
Study Activities: The Batten Natural History Study has two main parts:
- Medical history interview: You will be asked questions about your child’s medical history and medications.
- UBDRS: A Neurologist will ask you questions about your child’s symptoms. This also includes a brief 5-10 minute physical exam with your child. Your child is only required to be present during the brief physical exam.
These study procedures will take approximately 45 to 60 minutes to complete.
If you choose to enroll in the Batten Natural History Study, you and your child may also be able to take part in additional study activities.
- Purpose: Cognitive testing helps us learn about a child’s thinking skills. One goal of this research is to understand how thinking skills change due to Batten disease and what we can do to minimize the impact of cognitive symptoms on quality of life.
- Who can Participate: Individuals with ALL FORMS of Batten disease may be eligible to participate, if they can complete the testing.
- Study Activities: Cognitive testing involves an assessment of your child’s thinking skills such as attention and memory. Your child would complete this testing in a quiet room with the URBC Neuropsychologist, Dr. Heather Adams. If your child is unable to see, we will only ask questions that require a verbal response. If your child can see, we might ask him/her to point to some pictures. The cognitive testing will take about 30 minutes to complete. You are welcome to stay in the room with your child while he/she completes this testing.
- Purpose: Genetic samples for this study are used to better understand the genetic changes that cause Batten disease and influence its severity. You will also have the option of agreeing to have your/your child’s cheek cells stored for future genetic research.
- Who can Participate: Individuals with CLN3 disease or suspected CLN3 disease may be asked to participate. Parents of individuals with CLN3 disease may also be asked to participate.
- Study Activities: If you agree to participate, we may take a cheek cell sample from you and your child. To obtain the cheek cells, a small brush will be gently pressed against a portion of your/your child’s cheek inside the mouth to gently remove a few skin cells. This procedure is painless and takes about 5 minutes to complete.
URBC Future Contact Registry
Purpose: The goal of the contact registry is to keep families informed about research opportunities and about other activities of the URBC. This registry asks your permission to keep your contact information on file, so that we can send you updates.
Who can Participate: Individuals with ALL FORMS of Batten disease and their parents/legal guardians are eligible to participate.
Study Activities: This research activity involves reviewing information about the contact registry and completing a 5 minute survey that includes questions about your child’s diagnosis and contact information for you and your child’s physician. You may enroll in-person or online: Enroll Today.
Late Infantile Batten Disease (LINCL) Study of Adaptive Behavior and Family Impact
Purpose: This study is focused on learning more about everyday behavior and adaptive skills of children with Late Infantile Batten disease and how these behaviors and skills change over time. We also aim to learn more about the impact of Batten disease on the family.
Who can Participate: Parents of individuals with LINCL (with or without a genetic diagnosis) are invited to participate.
Study Activities: If you take part in this study, we will ask you to fill out three forms, once every 6 months. You can choose to fill these forms out at home, or we can set up an interview with you in person, by phone, or via video conference. The forms will take 45-60 minutes to complete.