Batten Disease Information Page

Batten Disease Information Page


What research is being done?

Much of the research on Batten disease focuses on developing a better understanding of the disease, gene therapy, and the development of drugs to treat the disorder. Scientists are using a modified safe virus to deliver a functioning gene to the brain with hopes the replacement gene will take over or restore the mutated gene's normal function. Using an animal model, NINDS-funded scientists are combining gene therapy with bone marrow transplant as a therapy for infantile Batten disease.  NIH researchers have identified a potential new drug to treat infantile Batten disease that uses a non-toxic molecule to prevent the harmful cellular residue buildup. Among other research, scientists are looking at the development of new molecules to treat Batten and a variety of neurological disorders. Other scientists hope to identify biomarkers--biological signs that may indicate the presence or progression of a disease--to better understand the disease and possibily develop new treatments. The NINDS helps fund the Lysosomal Diseases Network, a combined network of research centers, clinical investigators, patient advocacy groups, and other interested parties that advocate for research on diagnosing, managing, and treating lysosomal and related diseases, including Batten disease.

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What research is being done?

Much of the research on Batten disease focuses on developing a better understanding of the disease, gene therapy, and the development of drugs to treat the disorder. Scientists are using a modified safe virus to deliver a functioning gene to the brain with hopes the replacement gene will take over or restore the mutated gene's normal function. Using an animal model, NINDS-funded scientists are combining gene therapy with bone marrow transplant as a therapy for infantile Batten disease.  NIH researchers have identified a potential new drug to treat infantile Batten disease that uses a non-toxic molecule to prevent the harmful cellular residue buildup. Among other research, scientists are looking at the development of new molecules to treat Batten and a variety of neurological disorders. Other scientists hope to identify biomarkers--biological signs that may indicate the presence or progression of a disease--to better understand the disease and possibily develop new treatments. The NINDS helps fund the Lysosomal Diseases Network, a combined network of research centers, clinical investigators, patient advocacy groups, and other interested parties that advocate for research on diagnosing, managing, and treating lysosomal and related diseases, including Batten disease.

Much of the research on Batten disease focuses on developing a better understanding of the disease, gene therapy, and the development of drugs to treat the disorder. Scientists are using a modified safe virus to deliver a functioning gene to the brain with hopes the replacement gene will take over or restore the mutated gene's normal function. Using an animal model, NINDS-funded scientists are combining gene therapy with bone marrow transplant as a therapy for infantile Batten disease.  NIH researchers have identified a potential new drug to treat infantile Batten disease that uses a non-toxic molecule to prevent the harmful cellular residue buildup. Among other research, scientists are looking at the development of new molecules to treat Batten and a variety of neurological disorders. Other scientists hope to identify biomarkers--biological signs that may indicate the presence or progression of a disease--to better understand the disease and possibily develop new treatments. The NINDS helps fund the Lysosomal Diseases Network, a combined network of research centers, clinical investigators, patient advocacy groups, and other interested parties that advocate for research on diagnosing, managing, and treating lysosomal and related diseases, including Batten disease.


Definition
Definition
Treatment
Treatment
Prognosis
Prognosis
Clinical Trials
Clinical Trials
Organizations
Organizations
Publications
Publications
Definition
Definition

Batten disease is one of a group of inherited nervous system disorders that most often begin in childhood and interfere with a cell's ability to recycle a cellular residue called lipofuscin. Batten is commonly being used to describe the many forms of the disease, called neuronal ceroid lipofuscinosis. The many forms of the disease are classified by the gene that causes the disorder, with each gene being called CLN (ceroid lipofucinosis, neuronal) and given a differet number as its subtype. Becasue of the different gene mutations, signs and symptoms range in severity and progress at different rates. Symptoms generally include progressive vision loss leading to blindness, seizures, movement disorder, and dementia. Other symptoms that continue to worsen over time include learning difficulties, poor concentration, and progressive loss of language skills and speech. Most children become bedridden and unable to communicate. Diagnosis is made by genetic testing, laboratory and diagnostic testing, and eye exams. 

×
Definition

Batten disease is one of a group of inherited nervous system disorders that most often begin in childhood and interfere with a cell's ability to recycle a cellular residue called lipofuscin. Batten is commonly being used to describe the many forms of the disease, called neuronal ceroid lipofuscinosis. The many forms of the disease are classified by the gene that causes the disorder, with each gene being called CLN (ceroid lipofucinosis, neuronal) and given a differet number as its subtype. Becasue of the different gene mutations, signs and symptoms range in severity and progress at different rates. Symptoms generally include progressive vision loss leading to blindness, seizures, movement disorder, and dementia. Other symptoms that continue to worsen over time include learning difficulties, poor concentration, and progressive loss of language skills and speech. Most children become bedridden and unable to communicate. Diagnosis is made by genetic testing, laboratory and diagnostic testing, and eye exams. 

Treatment
Treatment

The U.S. Food and Drug Administration has approved the use of cerliponase alfa to slow the progression of symptoms in children with a late infantile form of the disorder called CLN2.  Currently no specific treatment can reverse the symptoms of Batten disease or any form of CLN. Seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help individuals retain functioning as long as possible.

×
Treatment

The U.S. Food and Drug Administration has approved the use of cerliponase alfa to slow the progression of symptoms in children with a late infantile form of the disorder called CLN2.  Currently no specific treatment can reverse the symptoms of Batten disease or any form of CLN. Seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help individuals retain functioning as long as possible.

Definition
Definition

Batten disease is one of a group of inherited nervous system disorders that most often begin in childhood and interfere with a cell's ability to recycle a cellular residue called lipofuscin. Batten is commonly being used to describe the many forms of the disease, called neuronal ceroid lipofuscinosis. The many forms of the disease are classified by the gene that causes the disorder, with each gene being called CLN (ceroid lipofucinosis, neuronal) and given a differet number as its subtype. Becasue of the different gene mutations, signs and symptoms range in severity and progress at different rates. Symptoms generally include progressive vision loss leading to blindness, seizures, movement disorder, and dementia. Other symptoms that continue to worsen over time include learning difficulties, poor concentration, and progressive loss of language skills and speech. Most children become bedridden and unable to communicate. Diagnosis is made by genetic testing, laboratory and diagnostic testing, and eye exams. 

Treatment
Treatment

The U.S. Food and Drug Administration has approved the use of cerliponase alfa to slow the progression of symptoms in children with a late infantile form of the disorder called CLN2.  Currently no specific treatment can reverse the symptoms of Batten disease or any form of CLN. Seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help individuals retain functioning as long as possible.

Prognosis
Prognosis

Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and have dementia. Children with Batten disease have a greatly shortened life expectancy. Children with infantile Batten disease often die in early childhood. Children with later onset forms of the disease may live into their teens to thirties, while those who develop the disease in adulthood may have a normal life expectancy.

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Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and have dementia. Children with Batten disease have a greatly shortened life expectancy. Children with infantile Batten disease often die in early childhood. Children with later onset forms of the disease may live into their teens to thirties, while those who develop the disease in adulthood may have a normal life expectancy.

Prognosis
Prognosis

Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and have dementia. Children with Batten disease have a greatly shortened life expectancy. Children with infantile Batten disease often die in early childhood. Children with later onset forms of the disease may live into their teens to thirties, while those who develop the disease in adulthood may have a normal life expectancy.

Definition

Batten disease is one of a group of inherited nervous system disorders that most often begin in childhood and interfere with a cell's ability to recycle a cellular residue called lipofuscin. Batten is commonly being used to describe the many forms of the disease, called neuronal ceroid lipofuscinosis. The many forms of the disease are classified by the gene that causes the disorder, with each gene being called CLN (ceroid lipofucinosis, neuronal) and given a differet number as its subtype. Becasue of the different gene mutations, signs and symptoms range in severity and progress at different rates. Symptoms generally include progressive vision loss leading to blindness, seizures, movement disorder, and dementia. Other symptoms that continue to worsen over time include learning difficulties, poor concentration, and progressive loss of language skills and speech. Most children become bedridden and unable to communicate. Diagnosis is made by genetic testing, laboratory and diagnostic testing, and eye exams. 

Treatment

The U.S. Food and Drug Administration has approved the use of cerliponase alfa to slow the progression of symptoms in children with a late infantile form of the disorder called CLN2.  Currently no specific treatment can reverse the symptoms of Batten disease or any form of CLN. Seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help individuals retain functioning as long as possible.

Prognosis

Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and have dementia. Children with Batten disease have a greatly shortened life expectancy. Children with infantile Batten disease often die in early childhood. Children with later onset forms of the disease may live into their teens to thirties, while those who develop the disease in adulthood may have a normal life expectancy.

What research is being done?

Much of the research on Batten disease focuses on developing a better understanding of the disease, gene therapy, and the development of drugs to treat the disorder. Scientists are using a modified safe virus to deliver a functioning gene to the brain with hopes the replacement gene will take over or restore the mutated gene's normal function. Using an animal model, NINDS-funded scientists are combining gene therapy with bone marrow transplant as a therapy for infantile Batten disease.  NIH researchers have identified a potential new drug to treat infantile Batten disease that uses a non-toxic molecule to prevent the harmful cellular residue buildup. Among other research, scientists are looking at the development of new molecules to treat Batten and a variety of neurological disorders. Other scientists hope to identify biomarkers--biological signs that may indicate the presence or progression of a disease--to better understand the disease and possibily develop new treatments. The NINDS helps fund the Lysosomal Diseases Network, a combined network of research centers, clinical investigators, patient advocacy groups, and other interested parties that advocate for research on diagnosing, managing, and treating lysosomal and related diseases, including Batten disease.

Patient Organizations
Batten Disease Support and Research Association
2780 Airport Drive, Suite 342
Columbus
OH
Columbus, OH 43219
Tel: 800-448-4570
Children's Brain Disease Foundation[A Batten Disease Resource]
Parnassus Heights Medical Building, Suite 900
Suite 900
San Francisco
CA
San Francisco, CA 94117
Tel: 415-665-3003
Hide and Seek Foundation for Lysosomal Storage Disease Research
6475 East Pacific Coast Highway
Suite 466
Long Beach
CA
Long Beach, CA 90803
Tel: 877-621-1122
Nathan's Battle Foundation[For Batten Disease Research]
459 State Road 135 South
Greenwood
IN
Greenwood, IN 46142
Tel: 317-888-7396
Publications

Batten Disease fact sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.

Patient Organizations