Amicus Therapeutics' Gene Therapy for Rare, Fatal Childhood Disease Shows Promise in Early Clinical Trial

Research in lab

Amicus Therapeutics, based in Cranbury, New Jersey, announced positive interim results from its CLN6 Batten disease gene therapy program. The Abigail Wexner Research Institute (AWRI) at Nationwide Children’s Hospital is running the ongoing Phase I/II clinical trial of a one-time intrathecal administration of AAV-CLN6 gene therapy for CLN6 Batten disease.

Batten disease is a fatal neurologic illness that results in children losing the ability to walk, speak, think and see. Batten disease is part of a family of rare, fatal, inherited diseases of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs.

A specific gene mutation causes a cascade of issues that interfere with a cell’s ability to recycle specific molecules. Each of the genes is called CLN and has a different number as its subtype. There are 13 known types of Batten disease generally referred to as CLN1-8; 10-14. Although they all have similar features and symptoms, they vary in severity and age of onset. Most begin during childhood.

Don't wait, start your job search now.  There are thousands of active life sciences jobs. Browse and apply today.  Browse Jobs

It is estimated that the CLN6 disease affects about 1,000 children worldwide.

Interim efficacy data for the first eight children showed a positive impact on motor and language function compared to a natural history dataset, as well as comparisons within sibling pairs. Treatment was generally well tolerated.

“This program and these initial results represent the heart and soul of who we are and why we do what we do at Amicus,” stated John F. Crowley, chairman and chief executive officer of Amicus. “These interim clinical data suggest that our gene therapy in CLN6 Batten disease has the potential to halt the progression of this devastating fatal disease that untreated destroys brain function and kills children. It is remarkable that most children in this study appear to show stabilization, particularly the younger children who were able to maintain high baseline motor and language scores for up to two years.”

Crowley added, “We know that brain damage here is irreversible, and early intervention will be critical to preserve the ability to speak and walk. We look forward to presenting additional data throughout this year and continuing to advance our CLN6 and other Batten disease gene therapy programs that all apply the same AAV technology platform developed by Dr. Brian Kaspar and his former colleagues at Nationwide Children’s. Early intervention is crucial, so we move forward with a great sense of urgency here for these children and their families.”

The AAV-CLN6 gene therapy uses an adeno-associated virus (AAV) capsid to deliver a normal gene segment.

The interim data showed meaningful impact on motor and language function, evidence of disease stabilization in seven out of the eight children after treatment, and a favorable safety profile. Data from the patients was compared to a natural history cohort as well as sibling comparisons, both within the trial group and via natural history analysis.

Of the eight, the one child who didn’t respond was the oldest in the cohort, who received treatment at six-and-a-half years of age. This reinforced the idea that early intervention is important. The disease is typically diagnosed around the age of four or five and is typically fatal by the age of 10.

There is a single approved treatment for a different subtype, CLN2 Batten disease, which was approved in the U.S. in April 2017. It is BioMarin Pharmaceutical’s enzyme replacement therapy Brineura (cerliponase alfa).

Amicus is also working to develop gene therapies for CLN3, CLN8 and CLN1 variations of Batten disease. The CLN3 program began clinical trials at the beginning of this year.

Back to news