PPT1 function has not been fully characterized.

Neuronal ceroid lipofuscinosis 1 is associated with mutations in the PPT1 gene on chromosome 1.

Genetic testing for PPT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neuronal ceroid lipofuscinosis 1 has been reported in the published literature.

No approved treatments are currently available for neuronal ceroid lipofuscinosis 1. An additional 2 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for neuronal ceroid lipofuscinosis 1, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for neuronal ceroid lipofuscinosis 1. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Gene therapy approaches for neuronal ceroid lipofuscinosis 1 have been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 very common feature, 1 common feature.

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

No clinical trials have been registered for neuronal ceroid lipofuscinosis 1.

20 publications have been identified in PubMed for neuronal ceroid lipofuscinosis 1. Research spans Basic Science / Preclinical (60%), Gene Therapy / Novel Therapeutics (20%), and Diagnostic / Biomarker (5%).

Recent Publications

• Tong J (2026). [PMID: 41629288](https://pubmed.ncbi.nlm.nih.gov/41629288/). *Transl Psychiatry*. [Basic Science / Preclinical]

• Barnes M (2026). [PMID: 41741265](https://pubmed.ncbi.nlm.nih.gov/41741265/). *Trends Pharmacol Sci*. [Review / Meta-Analysis]

• Ziółkowska EA (2026). [PMID: 41977268](https://pubmed.ncbi.nlm.nih.gov/41977268/). *Int J Mol Sci*. [Gene Therapy / Novel Therapeutics]

• Tieze SM (2026). [PMID: 42070169](https://pubmed.ncbi.nlm.nih.gov/42070169/). *Acta Neuropathol*. [Basic Science / Preclinical]

• Werthmann GC (2026). [PMID: 41509379](https://pubmed.ncbi.nlm.nih.gov/41509379/). *bioRxiv*. [Basic Science / Preclinical]

• Messina M (2026). [PMID: 41630928](https://pubmed.ncbi.nlm.nih.gov/41630928/). *Neurol Genet*. [Clinical Trial Publication]

• Raman R (2026). [PMID: 41576655](https://pubmed.ncbi.nlm.nih.gov/41576655/). *Mol Genet Metab*. [Gene Therapy / Novel Therapeutics]

• Ziółkowska EA (2025). [PMID: 39813314](https://pubmed.ncbi.nlm.nih.gov/39813314/). *Sci Transl Med*. [Gene Therapy / Novel Therapeutics]

• Anstötz M (2025). [PMID: 40990621](https://pubmed.ncbi.nlm.nih.gov/40990621/). *Neuropathol Appl Neurobiol*. [Basic Science / Preclinical]

• Appu AP (2025). [PMID: 40333988](https://pubmed.ncbi.nlm.nih.gov/40333988/). *Sci Adv*. [Basic Science / Preclinical]