Neurogene | Developing Gene Therapies for Patients & Families

Neurogene collaborates with patients and their families to ACCOMPLISH OUR SHARED MISSION to develop gene therapies for rare diseases.

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 Batten disease (CLN5 and CLN7), Krabbe, Charcot-Marie-Tooth disease (CMT4J), and aspartylglucosaminuria (AGU). 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.

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, also called the MFSD8 gene, which leads to disruption of normal CLN7 protein function.

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

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3 days ago

Natural history information is usually unavailable or incomplete for many rare diseases, making natural history studies particularly important. Learn more about the #BattenDisease natural history study for CLN5 and CLN7 subtypes at University of Rochester Batten Center by calling 1-866-620-8143 or emailing medicalinfo@neurogene.com. ... See MoreSee Less

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We help connect families with resources and information related to Batten disease.

A Natural History Study of Late Infantile Variant CLN5 and CLN7 Disease

Visit ClinicalTrials.gov to learn more about the natural history study that Neurogene is currently conducting for CLN5 and CLN7.

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Learn more about Batten disease and Gene Therapy

Batten disease occurs when at least one of the thirteen known ceroid lipofuscinosis (CLN) genes is mutated. Gene therapy may offer a one-time treatment to slow or ideally stop the progression of these disorders by delivering a working gene to target the cause of the disease. Watch this video from the American Society of Gene & Cell Therapy.

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Krabbe Disease (globoid cell leukodystrophy)

Krabbe disease, also known as globoid cell leukodystrophy, is a rare, inherited, autosomal recessive disorder that affects the nervous system. It occurs in up to 1 in 100,000 people in the United States. People affected by Krabbe disease have a deficiency of the galactocerebrosidase (GALC) enzyme, which helps break down toxic fats, including psychosine and galactosylceramide, in the nervous system. This enzyme deficiency is due to disease-causing variants, or mutations, in the GALC gene.

Accumulation of psychosine and galactosylceramide is toxic to the nervous system, with excessive psychosine thought to lead to destruction of the myelin-forming cells throughout the nervous system. Myelin is a fatty substance that insulates nerve fibers and enables the efficient transmission of nerve signals from the brain to the rest of the body. The destruction of myelin leads to the signs and symptoms of Krabbe disease.

Krabbe disease is diagnosed via newborn screening in certain states in the US. Performed during the first few days of life, newborn screening for Krabbe disease measures GALC enzyme levels. Babies with low GALC enzyme levels may be further tested for diagnosis or monitoring.

In early infantile Krabbe disease, the most severe and rapidly progressive form of the disease, developmental delays are apparent before the age of six months, with some signs of disease arising soon after birth. Signs and symptoms include feeding difficulties, excessive crying, loss of previously attained milestones, seizures, muscle spasms, blindness, deafness and loss of voluntary movement. Due to rapidly progressive disease, individuals with this form of disease typically do not survive beyond 2-3 years of age when untreated.

Krabbe disease does not have a cure. Treatment is mainly supportive and includes seizure medications, placement of feeding tubes, among other interventions. Early diagnosis enables early treatment, which may improve the course of the disease. Hematopoietic stem cell transplant, also referred to as umbilical cord transplant or bone marrow transplant, is currently used in infants with Krabbe disease who are diagnosed before symptoms become apparent. In addition, there are emerging treatments, such as gene therapy, under development.

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 is a fatty substance that 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 in the hands and feet. Symptoms of CMT4J may appear for the first time during childhood or later in life.

We are proud to offer LivingCMT4J.com, a community-focused resource for patients and families. Discover helpful resources and support for CMT4J to guide you along your journey.

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

To learn about the natural history studies that Neurogene is currently conducting, for CMT4J click on the link below

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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 and affects 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 LivingAGU.com, a community-focused resource for patients and families. Discover helpful resources and support for AGU to guide you along your journey.

Gay Grossman leads our engagement with patient communities around the world.

As a rare disease parent and advocate herself, Gay seeks to better understand and elevate the needs of people living with Batten disease (CLN5 and CLN7), Krabbe, Charcot-Marie-Tooth (CMT4J), and aspartylglucosaminuria (AGU) to help guide our efforts from a patient and caregiver perspective throughout the drug development process, from natural history studies through clinical trial design. You can contact patient engagement at Gay.Grossman@neurogene.com or call (646) 737-2391. For additional information or questions call the Neurogene contact center at 1-866-574-4568.

Our FOCUS and IMPACT

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.

See how we are REIMAGINING THE FUTURE

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

Our COMMUNITY

Neurogene | We work to update the community about our work on very rare neurological diseases. — 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.

Neurogene | We partner with patients and families to conduct natural history studies and sponsor testing programs. — 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.

Patients and Families