Online Inquiry

Please note that we are not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.


Neuronal Ceroid Lipofuscinosis (NCL)

Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. With our pioneering efforts in NCL research, we are at the forefront of developing cutting-edge diagnostic tools and therapeutics to facilitate the effective management of NCL. As your reliable partner in NCL research, we offer unmatched support to fulfill your scientific research needs.

Overview of NCL

Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is a group of rare and devastating neurodegenerative disorders primarily affecting the nervous system, particularly in childhood. These inherited conditions lead to the accumulation of lipofuscins, within cells, impairing their normal function and ultimately resulting in cell death. NCL is relatively rare, with an incidence of approximately 1 in 25,000.

Fig. 1 Dysregulation of the endocytic and autophagic pathways in LSDs including the NCLs.Fig. 1 Dysregulation of the endocytic and autophagic pathways in LSDs including the NCLs. (Mukherjee, et al., 2019)

NCL encompasses various subtypes, each characterized by distinct genetic mutations and differing presentations. The genetic mutations associated with NCL affect the normal functioning of lysosomes, cellular organelles responsible for degrading and recycling unwanted materials. As a result, waste products such as lipofuscin accumulate, leading to cellular dysfunction and subsequent neuronal death.

Table. 1 Relationship between major subtypes of NCL and mutated genes

NCL Subtypes Description Gene
CLN1 Ceroid lipofuscinosis, neuronal, 1 (CLN1), also known as infantile NCL, begins between approximately 6 months and 2 years of age and progresses rapidly. PPT1
CLN2 Ceroid lipofuscinosis, neuronal, 2 (CLN2), also known as late infantile NCL, begins between 2 and 4 years of age. TPP1
CLN3 Ceroid lipofuscinosis, neuronal, 3 (CLN3), also known as juvenile NCL, begins between the ages of 5 and 8 years. CLN3
CLN4 Ceroid lipofuscinosis, neuronal, 4 (CLN4), also known as adult NCL, generally begins before age 40 and causes milder symptoms that progress slowly. CLN6, DNAJC5

Diagnostics Development of NCL

Diagnostic methods for NCL encompass a comprehensive approach, including genetic testing, enzyme activity assays, electroencephalography (EEG), neuroimaging, and histopathological examination.

  • Genetic testing plays a pivotal role in identifying specific mutations associated with NCL subtypes, enabling precise diagnosis and genetic counseling.
  • Enzyme activity assays provide valuable insights into the deficiency of lysosomal enzymes, further aiding in subtype classification.
  • EEG and neuroimaging techniques help detect characteristic abnormalities in brain activity and structure, respectively.
  • Histopathological examination of tissue samples confirms the presence of lipofuscin accumulation, validating the diagnosis.

Therapeutics Development of NCL

Enzyme Replacement Therapy (ERT)

In the case of NCL, ERT aims to supplement the deficient lysosomal enzymes responsible for the degradation of lipofuscins. Brineura™ (cerliponase alfa) is an FDA-approved enzyme replacement therapy for the therapy of CLN2. It has demonstrated efficacy in slowing the rate of decline in motor and language function in affected children.

Gene Therapy

Gene therapy holds immense promise for the therapy of genetic disorders like NCL. In NCL, where specific genetic mutations disrupt lysosomal function, gene therapy aims to deliver the corrected gene to affected cells, enabling the production of functional lysosomal enzymes. Several preclinical studies are underway to evaluate the safety and efficacy of gene therapy approaches for NCL.

Small Molecule Therapies

Small molecule therapies are currently being explored to restore cellular homeostasis, reduce lipochrome accumulation, and mitigate neurodegeneration in NCL. Research in this area involves the identification and development of small molecules that can penetrate the blood-brain barrier and exert therapeutic effects within the central nervous system.

Our Services

With years of extensive involvement in rare disease research, our company boasts a highly skilled team and vast expertise. We harness state-of-the-art technology to drive the development of innovative diagnostic tools, enabling early detection of NCL. By establishing animal models and conducting in-depth investigations into NCL pathogenesis and targets, we advance therapeutic drug development.

Our Research Platforms

Our Services

Animal Models of NCL

Genetically Engineered Models
At our company, we specialize in developing genetically engineered models for NCL research. Our expertise in genetic engineering techniques, such as CRISPR/Cas9 technology, allows us to generate accurate and reliable models that recapitulate the genetic alterations observed in NCL individuals.
Optional Models
  • Tpp1 Mutation Models
  • Ppt1 Mutation Models
  • Cln3 Mutation Models
  • Cln5 Mutation Models
  • Cln6 Mutation Models
  • Cln8 Mutation Models
  • Cathepsin D Missense Mutation Models
  • Arylsulfatase G Mutation Models
Optional Species Mice, Zebrafish, Fruit Flies, Dogs, Sheep, Cattle, Others

No matter what stage of research you are at, we can provide you with corresponding research services. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.


  • Mukherjee, Anil B., et al. "Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses." Molecular neurodegeneration 14 (2019): 1-23.
  • Specchio, Nicola, et al. "Neuronal ceroid lipofuscinosis: potential for targeted therapy." Drugs 81 (2021): 101-123.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

Related Services

Copyright © Protheragen. All rights reserves.