TPP1 function has not been fully characterized.

Neuronal ceroid lipofuscinosis 2 is associated with mutations in the TPP1 gene on chromosome 11.

Genetic testing for TPP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neuronal ceroid lipofuscinosis 2 has been reported in the published literature.

1 FDA-approved treatment is available for neuronal ceroid lipofuscinosis 2, including CERLIPONASE ALFA (BRINEURA, approved 2017). An additional 3 compounds hold orphan drug designation.

Approved Therapies

Orphan Drug Designations

The following drugs have received orphan drug designation from the FDA for neuronal ceroid lipofuscinosis 2. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Adverse Event Profiles

FDA adverse event reports (FAERS) include all outcomes reported during treatment and do not establish causation. Report counts reflect all approved indications for each drug, not only this disease.

496 adverse event reports have been filed with the FDA for CERLIPONASE ALFA (across all indications). Most commonly reported: pyrexia, device related infection, and cns ventriculitis.

Gene therapy approaches for neuronal ceroid lipofuscinosis 2 have been reported in the published literature.

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

65 publications have been identified in PubMed for neuronal ceroid lipofuscinosis 2. Research spans Case Report / Case Series (20%), Epidemiology / Natural History (17%), and Review / Meta-Analysis (15%).

Recent Publications

• Gopalka M (2026). [PMID: 41897078](https://pubmed.ncbi.nlm.nih.gov/41897078/). *Children (Basel, Switzerland)*. [Case Report / Case Series]

• Petersen M (2026). [PMID: 42175674](https://pubmed.ncbi.nlm.nih.gov/42175674/). *J Inherit Metab Dis*. [Clinical Trial Publication]

• Striano P (2026). [PMID: 41826146](https://pubmed.ncbi.nlm.nih.gov/41826146/). *European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society*. [Epidemiology / Natural History]

• Drobňaková S (2026). [PMID: 42195294](https://pubmed.ncbi.nlm.nih.gov/42195294/). *Life (Basel)*. [Epidemiology / Natural History]

• Walus M (2026). [PMID: 42102651](https://pubmed.ncbi.nlm.nih.gov/42102651/). *Mol Genet Metab*. [Basic Science / Preclinical]

• Chear S (2026). [PMID: 41082119](https://pubmed.ncbi.nlm.nih.gov/41082119/). *Methods in molecular biology (Clifton, N.J.)*. [Gene Therapy / Novel Therapeutics]

• Shock M (2026). [PMID: 40966012](https://pubmed.ncbi.nlm.nih.gov/40966012/). *Journal of child neurology*. [Review / Meta-Analysis]

• Oliveira JA (2026). [PMID: 41160491](https://pubmed.ncbi.nlm.nih.gov/41160491/). *Journal of child neurology*. [Review / Meta-Analysis]

• Liu K (2026). [PMID: 41986128](https://pubmed.ncbi.nlm.nih.gov/41986128/). *Zhonghua Yi Xue Za Zhi*. [Case Report / Case Series]

• Tsuchie H (2026). [PMID: 42186472](https://pubmed.ncbi.nlm.nih.gov/42186472/). *Yonago Acta Med*. [Case Report / Case Series]