Ongoing Studies

Batten Medical Records Study

We are studying the natural history of NCL disorders, also called Batten diseases.  The goal of this study is to understand more about the symptoms of NCL disorders and how those symptoms change over time.

If you have a child or children, living or deceased, with any NCL disorder, then you can contribute to this study.  We are reaching out to parents of children with NCL disorders who are willing to share information about medical records, school, and other records related to your child’s healthcare and services (e.g., occupational or physical therapy).

Although this study won’t benefit your child directly, the information is vital to learn information about these diseases.  This study will help researchers understand the best ways to test new treatments in the future. 

If you are interested in participating in this study or if you have questions, please call (585) 275-6365 for more information.

Study FAQ

1. Who can participate?

• Any parent, who has a child with an NCL disorder (living or deceased), may provide information regarding their child for this study.

2. What does participation involve?

• If you decide to participate you will be asked to list
  • doctors who have seen your child,
  • schools that your child has attended,
  • places where your child has been hospitalized,
  • or programs where your child has received physical therapy or other services
• Once you have given us this information, you will be asked to give written permission for us to request records:
  • medical records,
  • school records,
  • or therapy notes
• Permission forms can be completed by email, fax, or letter: whatever is most convenient for you.

I was told my child has NCL based on their symptoms but they didn’t have testing that confirmed this.  Can you use my child’s records? 

• Your child may still be eligible to participate. Please call us to discuss 585-275-6365.

My child is deceased.  Are you still interested in learning about what my child’s experience with NCL was like?

• Yes! Your child’s records will be helpful for this study.

Will participating in this study affect my child’s ability to be in clinical trials?

• No.Being in this study will not exclude your child from any future studies, including clinical trials that they would otherwise be eligible for.

What if I don’t want to participate in this study?  Will that hurt my child’s chance of being involved in clinical trials? 

• No. This study is completely voluntary, and your decision will not affect your child’s care or their ability to participate in any future trials or other research about NCL disorders.

Are there any risks to participating in this study?

• The main risk is a loss of privacy if your child’s records are viewed by someone to whom you did not give permission. We will take several measures to protect your child’s records.

if you choose to use email to transmit information:

• we will encrypt all emails that we send you
• we recommend you use a secure email platform and return study materials from a private, secure computer.

if you choose to fax information to us:

• we recommend you store or shred the original faxed documents once they are sent to the study team.

The other risk is that you may find it distressing to think about providers or programs involved in caring for your child.  If you find this too upsetting, you can take a break, choose not to answer questions or tell us about a provider/program, or change your mind about participating.

How will you protect my child’s records once you have them? 

• In order to protect your child, information about your child will only be entered in our database with a study ID that cannot by itself be linked specifically to your child. The ‘linking file’ that matches your child with your child’s study ID will be stored separately on a password protected server, and paper copies of your child’s original records will be stored in a locked file cabinet. 

​Are there any benefits to participating in this study for my child?

• No, there are no direct benefits to your child.Information from the study will help doctors and researchers better understand important signs and symptoms of NCL disorders.

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. 

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.

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.

 Cognitive Testing

• 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.
• Study Activities:Cognitive testing involves an individualized assessment of your child's cognitive abilities, using tests of attention, memory, and other skills. The cognitive testing will take approximately 30-45 minutes to complete. This assessment is completed in a quiet room with the URBC Neuropsychologist, Dr. Heather Adams, or by a psychometrist who conducts the evaluation under her supervision. The assessment is adapted to your child's physical abilities. For example, children with visual impairment will only complete tasks that require a verbal response. We will stop the testing if your child decides at any point that they do not wish to continue.

Eye Exam

• Purpose:Because individuals with Batten disease have vision loss and retinal changes, we are interested in learning more about these changes.
• ​Study Activities:During this exam, your child will have tests to check how well your child sees, and pictures of your child's eyes will be taken using a special camera. Your child will be asked to hold their head still and to follow simple directions, to the best of their ability. Your child may be shown flashing lights and may be asked to push a button when they see lights. In order to do these tests, eye drops will be given to your child to dilate their eyes.

Interviews/Questionnaires

• Purpose: There are a variety of interviews and questionnaires that we ask parents to complete, to learn about a range of symptoms and impacts of Batten disease. The interviews/questionnaires ask about your child’s mood and behavior, adaptive function skills, sleep habits, and quality of life.  There are also some questionnaires focused on medical decision making.
• Study Activities: Questionnaires and interviews may be completed in person, or after a study visit by phone and/or mail.

Genetic 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.
• 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.

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.