MFSD8 encodes major facilitator superfamily domain containing 8 (518 aa). Outward-rectifying chloride channel involved in endolysosomal chloride homeostasis, membrane fusion and function. Conducts chloride currents up to hundreds of picoamperes. Highest expression in Brain Cerebellar Hemisphere (20.7 TPM) and Ovary (16.8 TPM).

Neuronal ceroid lipofuscinosis 7 is associated with mutations in the MFSD8 gene on chromosome 4.

MFSD8 is classified as a druggable target (Druggable Genome and Transporter categories) with score 0.0.

Genetic testing for MFSD8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neuronal ceroid lipofuscinosis 7 has been reported in the published literature.

No approved treatments are currently available for neuronal ceroid lipofuscinosis 7. An additional 2 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for neuronal ceroid lipofuscinosis 7, 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 7. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Gene therapy approaches for neuronal ceroid lipofuscinosis 7 have been reported in the published literature.

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

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions and gene therapy. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

36 publications have been identified in PubMed for neuronal ceroid lipofuscinosis 7. Research spans Basic Science / Preclinical (33%), Epidemiology / Natural History (25%), and Case Report / Case Series (19%).

Recent Publications

• Greenberg BM (2026). [PMID: 41314141](https://pubmed.ncbi.nlm.nih.gov/41314141/). *EBioMedicine*. [Clinical Trial Publication]

• Auvin S (2026). [PMID: 41354011](https://pubmed.ncbi.nlm.nih.gov/41354011/). *Eur J Paediatr Neurol*. [Epidemiology / Natural History]

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

• Yang M (2026). [PMID: 42129767](https://pubmed.ncbi.nlm.nih.gov/42129767/). *J Biomed Sci*. [Basic Science / Preclinical]

• Liu K (2026). [PMID: 41986128](https://pubmed.ncbi.nlm.nih.gov/41986128/). *Zhonghua Yi Xue Za Zhi*. [Gene Therapy / Novel Therapeutics]

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

• Gokalp S (2026). [PMID: 42100905](https://pubmed.ncbi.nlm.nih.gov/42100905/). *Clin Dysmorphol*. [Case Report / Case Series]

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

• Grodzki LM (2026). [PMID: 42274581](https://pubmed.ncbi.nlm.nih.gov/42274581/). *Cells*. [Basic Science / Preclinical]

• Marth L (2026). [PMID: 42274804](https://pubmed.ncbi.nlm.nih.gov/42274804/). *J Neurol*. [Other]