CLN5 encodes CLN5 lysosomal BMP synthase (358 aa). Catalyzes the synthesis of bis(monoacylglycero)phosphate (BMP) via transacylation of 2 molecules of lysophosphatidylglycerol (LPG). Highest expression in Thyroid (10.3 TPM) and Nerve Tibial (6.6 TPM).

Neuronal ceroid lipofuscinosis 5 is associated with mutations in the CLN5 gene on chromosome 13.

CLN5 is classified as a druggable target with score 0.0.

Genetic testing for CLN5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neuronal ceroid lipofuscinosis 5 has been reported in the published literature.

No approved treatments are currently available for neuronal ceroid lipofuscinosis 5. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for neuronal ceroid lipofuscinosis 5, 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 5. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Gene therapy approaches for neuronal ceroid lipofuscinosis 5 have been reported in the published literature.

Phenotype severity distribution: 7 always present features.

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

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

24 publications have been identified in PubMed for neuronal ceroid lipofuscinosis 5. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (21%), and Gene Therapy / Novel Therapeutics (21%).

Recent Publications

• Dutton AE (2026). [PMID: 40966007](https://pubmed.ncbi.nlm.nih.gov/40966007/). *J Child Neurol*. [Case Report / Case Series]

• Kim WD (2026). [PMID: 42031177](https://pubmed.ncbi.nlm.nih.gov/42031177/). *Biochim Biophys Acta Mol Basis Dis*. [Basic Science / Preclinical]

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

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

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

• Chaoul V (2026). [PMID: 41827875](https://pubmed.ncbi.nlm.nih.gov/41827875/). *Cells*. [Basic Science / Preclinical]

• Singh C (2025). [PMID: 40316283](https://pubmed.ncbi.nlm.nih.gov/40316283/). *BMJ case reports*. [Case Report / Case Series]

• Fote GM (2025). [PMID: 40845388](https://pubmed.ncbi.nlm.nih.gov/40845388/). *Journal of neurosurgery. Pediatrics*. [Basic Science / Preclinical]

• Parshina OP (2025). [PMID: 40927191](https://pubmed.ncbi.nlm.nih.gov/40927191/). *Frontiers in medicine*. [Case Report / Case Series]

• Auvin S (2025). [PMID: 41354011](https://pubmed.ncbi.nlm.nih.gov/41354011/). *European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society*. [Gene Therapy / Novel Therapeutics]