Neurogene collaborates with patients and their families to ACCOMPLISH OUR SHARED MISSION

We attend family meetings to engage families in our process, create connections, and get to know their stories.

We are on a mission to develop life-changing medicines for patients and families affected by rare neurological disorders, and we believe the best approach to addressing the urgent unmet needs of these families is a collaborative one.

In partnership with advocacy organizations, family foundations, patients, and disease experts around the world, we are working to determine and address the root cause of diseases such as aspartylglucosaminuria (AGU), Charcot-Marie-Tooth Type 4J (CMT4J), and two forms of Batten disease, CLN5 and CLN7. Our patient engagement team develops and nurtures relationships with families to understand their perspectives and unique needs, as well as find opportunities to bring solutions and resources to support their disease journeys.


We engage families in focus groups to gain insight on the impact of disease symptoms, the burden of disease and to better understand living with the disease.

We share updates and projects we are working on to help educate the rare disease community. Working with patient families enables us to gain insight from the experts who live with the disease every day. This information is often incorporated into the development of educational materials.

We include patient families in discussions to better understand living with the disease so that natural history studies and clinical trials are developed to reach impactful outcomes.


Neurogene’s commitment to monogenic neurological disease areas goes beyond the science; we want to raise awareness and connect the community to resources and support that can guide their journey.


Visit our product pipeline to learn more about Neurogene’s pursuit of gene therapy candidates for our disease areas of focus.

Clinical STUDIES

In order to better understand the course of each disease that we are working to address, Neurogene is conducting clinical studies.

There are two types of studies: non-interventional or interventional.

Natural history studies are non-interventional and, as such, there are no therapies involved; they can be prospective, which tracks the course of disease over time, or retrospective, where researchers review and examine factors by looking back at past medical events.

To find the natural history study that Neurogene is currently conducting for CMT4J, visit

A Natural History Study of Late Infantile Variant CLN5 and CLN7 Disease (to be enrolling soon)

A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)

Aspartylglucosaminuria (AGU)

Aspartylglucosaminuria (AGU) is a rare, neurodegenerative lysosomal storage disorder (LSD). AGU primarily affects the brain and spinal cord. Early symptoms of AGU usually appear by the age of 12 to 15 months and include developmental delay, specifically lack of speech and clumsy walking, and chronic ear infections. New signs and symptoms of the disorder develop and progress over time.

LSDs are a group of inherited metabolic diseases caused by genetic mutations. Each mutation causes a deficiency or absence of a critical enzyme. The lack of enzyme leads to the build-up of toxic chemicals that affect many organs in the body. AGU is caused by a variant in the AGA gene that causes deficient activity in the aspartylglucosaminidase (AGA) enzyme.

AGU affects both males and females as well as people of all ethnic groups. There are about 200 to 300 known AGU patients worldwide. People with AGU have been diagnosed in Finland, the United States, Japan, Italy, Canada, and other Nordic countries.

We are proud to offer, a community-focused resource for patients and families. Discover helpful resources and support for AGU to guide you along your journey.

Charcot-Marie-Tooth Type 4J (CMT4J)

Charcot-Marie-Tooth disease (CMT) is a group of inherited diseases that affect the peripheral nervous system (PNS). The PNS links the brain and spinal cord (the central nervous system or CNS) to organs, muscles, blood vessels, and glands throughout the body. CMTs are the most common inherited motor (moving) and sensory (feeling/sensing) nerve disorders, also known as neuropathies. All CMTs are progressive diseases—some progress slowly, while others progress rapidly.

CMT Type 4J (CMT4J) is a rare, inherited, recessive CMT caused by a variant in the FIG4 gene. These variants lead to uneven loss of myelin in motor and sensory nerves. Myelin coats the outside of nerves, enabling nerve impulses or signals to travel more quickly. The loss of myelin leads to muscle loss and muscle atrophy (weakness) and may also cause reduced sensation. Symptoms of CMT4J may appear for the first time during childhood or later in life.

We are proud to offer, a community-focused resource for patients and families. Discover helpful resources and support for CMT4J to guide you along your journey.

Batten Disease (CLN5 and CLN7)

Batten disease is a group of rare, inherited diseases of the nervous system also called neuronal ceroid lipofuscinoses, or NCLs. The different subtypes of Batten disease have many common features, but differ in terms of age of onset and rate of progression.

Neurogene is focusing on CLN5 and CLN7, two rare, late infantile (meaning pediatric-onset) and rapidly progressive subtypes of Batten disease. Children with CLN5 or CLN7 typically develop signs and symptoms of the diseases at a young age, including seizures, progressive deterioration in intellectual and motor capabilities, and loss of vision. CLN5 is caused by a variant in the CLN5 gene, which leads to disruption of normal CLN5 protein function. The CLN7 subtype of Batten disease is caused by a variant in the CLN7 gene, also called the MFSD8 gene, which leads to disruption of normal CLN7 protein function.

We are proud to offer, a community-focused resource for patients and families. Discover helpful resources and support for CLN5 and CLN7 to guide you along your journey.