Current Research
There are researchers, scientists, academic centers, pharmaceutical companies, and advocacy organizations working today to improve the understanding and treatment of Batten diseaseBatten disease is the common name for a broad class of rare, inherited disorders or diseases of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs. In these diseases, a defect in a specific gene triggers a cascade of problems that interferes with a cell’s ability to recycle certain molecules. The disease has several forms that share some of the same features and symptoms but vary in severity and age when symptoms first begin to appear. Each form is caused by a variant in a different gene. Although “Batten disease” originally referred specifically to the juvenile-onset form of NCL, the term Batten disease is increasingly used to describe all forms of NCL. The disease ultimately leads to shortened lifespan. for a more hopeful tomorrow. Because the late infantile types of CLN5 and CLN7 are rare, much of the information currently available comes from the experiences shared by the individuals living with Batten disease and from molecular biology research on the function of the CLN5 and MFSD8 genes. A variantA variant is a change in DNA. A variant may or may not cause disease. The following modifiers describe the variant: (i) pathogenic, (ii) likely pathogenic, (iii) uncertain significance, (iv) likely benign, or (v) benign depending on whether or not the variant causes disease. For example, a “pathogenic variant” may cause disease. The term “variant” has replaced the term “mutation.” in the CLN5 gene leads to CLN5 disease; a variant in the MFSD8 gene leads to CLN7 disease.
Ongoing Research
Learn how your child may be eligible to join a gene therapy clinical trial or a natural history study.
What is a natural history study?
Why is a Batten disease natural history study important?
The Commitment of Neurogene to Batten Disease (CLN5 and CLN7)
In addition to sponsoring this educational website, Neurogene Inc. is a biotech company committed to developing life-changing medicines for patients and families affected by rare, devastating neurological diseases.
Neurogene is partnering with researchers and clinicians to gain a greater understanding of late infantile variantsA variant is a change in DNA. A variant may or may not cause disease. The following modifiers describe the variant: (i) pathogenic, (ii) likely pathogenic, (iii) uncertain significance, (iv) likely benign, or (v) benign depending on whether or not the variant causes disease. For example, a “pathogenic variant” may cause disease. The term “variant” has replaced the term “mutation.” of CLN5 and CLN7 Batten diseaseBatten disease is the common name for a broad class of rare, inherited disorders or diseases of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs. In these diseases, a defect in a specific gene triggers a cascade of problems that interferes with a cell’s ability to recycle certain molecules. The disease has several forms that share some of the same features and symptoms but vary in severity and age when symptoms first begin to appear. Each form is caused by a variant in a different gene. Although “Batten disease” originally referred specifically to the juvenile-onset form of NCL, the term Batten disease is increasingly used to describe all forms of NCL. The disease ultimately leads to shortened lifespan.. More information about Neurogene’s research pipeline can be found here.
Batten Disease Studies
A clinical study entails research involving humans with the intended goal of strengthening medical knowledge. There are two types of clinical studies: interventional and non-interventional. In interventional clinical trialsA study conducted in humans that evaluates the effectiveness, safety, and side effects of investigational products (which could include medications, treatments, and devices) that have the possibility of treating a disease in that particular patient group., participants help researchers evaluate the efficacy and safety of investigational therapies that may have the possibility of treating a disease. Natural history studiesThere are two types of natural history studies: prospective and retrospective. A natural history study examines a group of people who have a specific medical condition or disease or are at risk of developing one. A natural history is non-interventional and collects health information in order to understand how the medical condition or disease develops and how to possibly treat it. No treatment or investigational product is given. In a prospective study, this data collection is forward-looking and is done over time in the future. In a retrospective study, researchers review and examine factors related to an outcome in the past by looking back on past exposures and medical events. are non-interventional, which means that there are no therapeutic interventions.
Studies on Batten diseaseBatten disease is the common name for a broad class of rare, inherited disorders or diseases of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs. In these diseases, a defect in a specific gene triggers a cascade of problems that interferes with a cell’s ability to recycle certain molecules. The disease has several forms that share some of the same features and symptoms but vary in severity and age when symptoms first begin to appear. Each form is caused by a variant in a different gene. Although “Batten disease” originally referred specifically to the juvenile-onset form of NCL, the term Batten disease is increasingly used to describe all forms of NCL. The disease ultimately leads to shortened lifespan. are registered on ClinicalTrials.gov, a website that provides access to information on publicly and privately supported clinical studies for various diseases and conditions.
Searching “Batten disease” in the search bar on ClinicalTrials.gov will result in a list of upcoming trials that are not yet recruiting, trials that are currently enrolling, and trials that have concluded, including any published data resulting from completed studies.
