Families raised millions and handed rare disease therapies off to biotechs. But companies have backed out

When Julia Taravella’s two sons were diagnosed with an ultra-rare disease, she did something extraordinary but not uncommon among parents like her: She formed a group that raised $1.2 million to try and find a treatment.

“Without a therapy, my sons will die,” Taravella said.

The money helped launch work on a potential gene therapy at the University of North Carolina, which was then handed off to a Texas-based company called Neurogene.

But what sounds like a victory propelled by a parent’s perseverance is being overshadowed by a lesserknown but increasingly common trend: Drugmakers are shelving many of those family-funded therapies.

In 2022, almost four years after Neurogene took over, the company stopped the work. The program is back with the University of North Carolina, and Taravella and other parents are trying to raise another $2.3 million for a clinical trial.

Read the full article here.

Theranexus and BBDF win FDA approval on efficacy endpoints for the Phase III trial to evaluate Batten-1 in CLN3 Batten disease

Theranexus and BBDF win FDA approval on efficacy endpoints for the Phase III trial to evaluate Batten-1 in CLN3 Batten disease

  • Phase III’s primary endpoint will be visual acuity, with secondary endpoints including assessment of cognitive and motor functions,
  • The FDA confirmed that this sole Phase III trial would secure Batten-1 approval for Batten CLN3 disease.

Lyon, France Austin, Texas, United States 9 May 2023 7.30am CEST Theranexus, a biopharmaceutical company innovating in the treatment of neurological diseases, and the Beyond Batten Disease Foundation (BBDF), have today announced receipt of approval from the Food and Drug Administration (FDA) for the design and primary and secondary endpoints of the pivotal Phase III trial for Batten disease CLN3, at a meeting with the Division of Rare Diseases and Medical Genetics (DRDMG) held in mid-April.

We are delighted with the constructive discussions we had with the FDA on defining the endpoints of Batten-1 and the design of our pivotal Phase III trial. Its valuable guidance allows us to get fully prepared for the trial launch,” explained Theranexus’ Chief Medical Officer Marie Sebille.

We would like to thank the FDA for its support, which is fundamental to the development of our Batten-1 drug candidate, the only asset in active clinical development for Batten disease (CLN3). Our pivotal Phase III trial will enable us to gain approval for Batten-1, and also deliver rich news flow throughout the duration of the Phase III trial thanks to the parallel open-label patient cohort. More generally, we have no doubt that we can deliver a therapeutic response for patients suffering from Batten disease,” added Theranexus’ CEO Mathieu Charvériat.

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BBDF Presents at World Symposia 19th Annual Scientify Meeting

BBDF was proud to partner with Theranexus and Engaged Health to present Understanding the Functional Burden of CLN3 Through the Eyes of Patients and Families at the World Symposia 19th Annual Scientify Meeting.

Contributors and attendees are contributing to the ongoing goal of providing the latest advances in lysosomal disease research and treatment to a global audience.

View the Presentation Slides


From 22 to 26 February 2023 in Orlando, Florida 

Presentation of preclinical data demonstrating how Batten-1 drastically reduces the buildup of toxic glycosphingolipids in Batten disease and a poster describing for the first time the burden of Batten disease. 

Lyon, France – Austin, Texas, United States – Cardiff, UK – 20 February 2023 – 6pm CET – Theranexus, a biopharmaceutical company innovating in the treatment of neurological diseases and pioneer in the development of drug candidates modulating the interaction between neurons and glial cells, and its partners Beyond Batten Disease Foundation (BBDF) and Cardiff University, today announced several presentations at WORLDSymposium 2023, an international scientific event focused on lysosomal diseases (22 to 26 February in Orlando, Florida – United States). 

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NCL Congress Report

BBDF sponsored Ineka Whiteman, PhD to attend the 7th Meeting Translational Research Conference for the Management of NCLs in Chicago, November 2022.

As part of the grant, Dr. Whiteman prepared a Research Report for Families, a comprehensive update of the research landscape for CLN3 disease. This information was shared on the January 2023 Family Research update call. If you are interested in joining BBDF’s quarterly family calls, please email info@beyondbatten.org and let us know that you would like to be added to our list.


View the full report here

New Advance to the Theranexus and BBDF Batten-1 Program for Juvenile Batten Disease (CLN3)

Beyond Batten Disease Foundation is excited to share the latest accomplishment on our journey to find a treatment for juvenile Batten disease. Six young adults over 17 years old have been successfully treated with miglustat over the past year. The results show that the drug is safe to use at the maximum dose. These results, in conjunction with a recent meeting with the FDA, allow us to proceed to the Phase III efficacy trial in 2023. Your support has been critical in the development of this program. We are one step closer to having the first ever treatment for CLN3 disease. Thank you for making this possible.

CONGRATULATIONS to the 2022 BDSRA Australia Research Grant Winners!

BBDF & BDSRA Australia are pleased to announce the winners of this year’s Research Grant round, with a total of over $120,000 awarded to three projects.

Congratulations to chief investigators Lottie Morison from the Murdoch Children’s Research Institute who has been awarded $13,950 for work in characterizing speech and language deficits in Batten disease; Dr. Nadia Mitchell from Lincoln University NZ awarded $54,545 for her continued work in CLN5 and CLN6 gene therapy; and Assoc. Professor Tony Cook from the University of Tasmania was awarded $53,612 for his continued work in CLN3 stem cell models.

The Beyond Batten Disease Foundation is a proud partner to co-fund Prof. Cook’s grant this year.

BBDF Sponsors NCL Congress

Thank you NCL Congress for allowing BBDF to be a sponsor this year as they gathered families, scientists, and industry experts to discuss gaps, lessons learned, and emerging therapeutic approaches in NCL preclinical and clinical research.

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