Clinical Trials
| NCL Subtype | Sponsor | Intervention | Status | Link to Trial Info |
|---|---|---|---|---|
| CLN1 | JCR Pharmaceuticals | AGT-194 enzyme replacement IV | Investigator-led study – 1 patient treated (Germany). Study no longer active. R&D actively continues. Seeking to initiate collaborative CLN1 natural history study. | |
| CLN1 | Taysha Gene Therapies | TSH-118 Gene therapy (AAV9; CNS) | Ph 1/2 paused (since early 2022) Continuing to explore partnership opportunities Single patient dosed under investigator-initiated study at RUSH, Chicago. Joint Statement to the Global Batten Disease Community (Feb. 2024). | |
| CLN2 | BioMarin | Cerliponase alfa - enzyme replacement; CNS | FDA Approves BRINEURA® for Children Under 3 Years with CLN2 Disease (July 2024) NCT04476862 Ph 4 -Observational/safety, ongoing (USA) | https://clinicaltrials.gov/study/NCT04476862 |
| CLN2 | BioMarin | Cerliponase alfa - Ocular | NCT05152914 Ph 1/2 - Active, not recruiting (USA) | https://clinicaltrials.gov/study/NCT05152914 |
| CLN2 | Tern Therapeutics | TTX-381 Gene therapy (AAV9; ocular) | Tern Therapeutics Receives US FDA Fast Track Designation for TTX-381 Gene Therapy for the Treatment of the Ocular Manifestations of CLN2 Disease (April 2025) U.K. MHRA Awards Tern Therapeutics Innovation Passport for TTX-381 to Accelerate Gene Therapy for the Treatment of the Ocular Manifestations of CLN2 Disease (July 2025) | |
| CLN2 | Tern Therapeutics | TTX-181 Gene therapy (AAV9; CNS) | https://www.terntx.com/services-7 | |
| CLN3 | University of North Carolina (UNC) Hospitals and ForeBatten Foundation | FBF-001 (Zebronkysen); Antisense Oligonucleotide (ASO) | N-of-2 study currently active. (Commenced Sept. 2024) One-Year Update (July 2025) | https://www.forebatten.org/zebronkysen https://news.unchealthcare.org/2024/09/unc-fast-tracks-personalized-treatment-for-twins-with-ultra-rare-genetic-disorder/ |
| CLN3 | Alcyone Therapeutics | CLN-301 Gene therapy (AAV9; CNS) | Formerly licenced to Amicus Therapeutics (until February 2024). *APRIL 2025 UPDATE* Alcyone Therapeutics Advances Pipeline for CLN-301 Gene Therapy for CLN3 Batten Disease | https://clinicaltrials.gov/study/NCT03770572 |
| CLN3 | Beyond Batten Disease Foundation/Theranexus | Batten-1 (miglustat) | NCT05174039 Ph 1/2 - complete (USA) Ph 3 pediatric study expected to commence 2025 (international sites) Theranexus and BBDF Share Strong Positive Real-World Data Supporting Batten-1 Efficacy for the Treatment of CLN3 Disease (May 2025) | https://clinicaltrials.gov/study/NCT05174039 |
| CLN3 | Polaryx Therapeutics | PLX-200 (gemfibrozil) | NCT04637282 Ph 3 - not yet recruiting (no movement since Nov 2020) - No update at this time | https://clinicaltrials.gov/study/NCT04637282 |
| CLN5 | Neurogene | NGN-101 Gene therapy (AAV9; CNS & ocular) | NCT05228145 Ph 1/2 Active; not recruiting (USA & UK) FDA RMAT Application denied, Neurogene evaluating best path forward for the program (Nov. 2024) Neurogene continues to evaluate best path forward for NGN-101 program (July 2025 - BDSRA Annual Family Conference) | https://clinicaltrials.gov/study/NCT05228145 |
| CLN6 | Amicus Therapeutics | AT-GTX-501 Gene therapy (AAV9; CNS) | (Program formerly with Amicus Therapeutics) Gray Foundation and Children's Hospital of Orange County (CHOC) Announce the Relaunch of CLN6 Gene Therapy Program (May 2025) | |
| CLN7 | UT Southwestern/Elpida Therapeutics | Gene therapy (AAV9; CNS) Elpida Therapeutics | NCT04737460 Ph1 active; not recruiting (USA) Assessments ongoing; Planning underway to move to Phase 2 (Elpida Therapeutics). | https://clinicaltrials.gov/study/NCT04737460 |
Natural History Studies
| NCL Subtype | Sponsor | Intervention | Status | Link to Trial Info |
|---|---|---|---|---|
| Natural History Study - all NCL types | University of Rochester, NY | All NCL types | NCT01873924 recruiting international patients – in-person and/or virtual visits | |
| Natural History Study - CLN3 only | National Institutes of Health (NIH) | CLN3; biomarker study | NCT03307304 recruiting international patients – in-person visits (+ virtual visits) | |
| Natural History Study - all NCL types | UKE Hamburg-Eppendorf, Germany | All NCL types | NCT04613089 recruiting international patients – in-person and/or virtual visits |
