Amicus Therapeutics Announces Phase 1/2 Study of Gene Therapy for CLN3 Batten Disease

Second Gene Therapy to Enter Clinic at Nationwide Children’s Hospital for Neurologic Lysosomal Storage Disorders

Initial Safety is Encouraging with No Serious Adverse Events at One Month

CRANBURY, NJ, USA I January 03, 2019 I Amicus Therapeutics (Nasdaq: FOLD), a global biotechnology company focused on discovering, developing and delivering novel medicines for rare metabolic diseases, today announced the initiation of a Phase 1/2 clinical study to evaluate the safety and efficacy of a single intrathecal administration of adeno-associated virus serotype 9 AAV9-CLN3 (AAV9-CLN3) gene therapy in children with CLN3 Batten disease. Batten disease is the common name for a broad class of rare, fatal, inherited disorders of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs. The initial patient completed a one-month observation period following dosing with no serious adverse events reported to date.

This first in human study of an investigational gene therapy in CLN3 Batten disease, a life-threatening genetic neurologic disorder that typically begins in early childhood and results in premature death, is currently being conducted at Nationwide Children’s Hospital (Columbus, Ohio). CLN3 is the most prevalent of the Batten’s disorders affecting an estimated 5,000+ patients.

“We are pleased to announce that the first child has been dosed in the Phase 1/2 study for CLN3 Batten disease,” said Jay Barth, MD, Chief Medical Officer at Amicus Therapeutics, Inc. “With this pioneering study in CLN3 Batten disease, a severe and devastating neurodegenerative disorder with no approved treatments, we hope that a single intrathecal administration of our gene therapy has the potential to treat the underlying cause of disease and provide a durable and meaningful treatment benefit. This initial participant in our CLN3 Batten disease study, together with the participants in our ongoing clinical study in CLN6 Batten disease, further supports the encouraging safety profile for the intrathecal AAV delivery platform. Advancing this program is another important step forward to potentially improve the lives of thousands of children living with Batten disease and other neurologic lysosomal storage disorders.”

Emily C. De Los Reyes, MD, Principal Investigator at Nationwide Children’s stated, “The initiation of this clinical study in CLN3 Batten disease is an important initial milestone. The proof-of-concept demonstrated in preclinical studies and validation of the intrathecal AAV platform across multiple indications here at Nationwide Children’s Hospital provides promise for the delivery approach in this study. We look forward to enrolling additional participants in the study and comparing the findings to the existing natural history data in CLN3 Batten disease.”

The Phase 1/2 study is enrolling children aged 3 to 10 years with a confirmed diagnosis of CLN3 Batten disease in two sequential intrathecal dose groups: a one-time low-dose of AAV9-CLN3 (Group 1) and a one-time high-dose of AAV9-CLN3 (Group 2) after evaluation of Group 1 participants. Both groups will participate in the current study for a period of three years. Amicus plans to present clinical data from this study, including interim data, at future scientific congresses and other relevant venues. The primary outcome measures are safety and efficacy as determined using the physical disability subscale of the Unified Batten Disease Rating Scale (UBDRS) in CLN3 Batten disease. More information is available at NCT03770572.

CLN3 Batten disease, the most common form of NCL results from a mutation in the CLN3 gene which primarily affects the nervous system. Children with this condition develop vision impairment, intellectual disability, progressive loss of motor function, speech difficulties, and seizures which worsen over time.

About Batten Disease
Batten disease is the common name for a broad class of rare, fatal, inherited disorders of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs. In these diseases, a defect in a specific gene triggers a cascade of problems that interferes with a cell’s ability to recycle certain molecules. Each gene is called CLN (ceroid lipofuscinosis, neuronal) and given a different number designation as its subtype. There are 13 known forms of Batten disease often referred to as CLN1-8; 10-14. The various types of Batten disease have similar features and symptoms but vary in severity and age of onset.

Most forms of Batten disease/NCLs usually begin during childhood. The clinical course often involves progressive loss of independent adaptive skills such as mobility, feeding, and communication. Patients may also experience vision loss, personality changes, behavioral problems, learning impairment, and seizures. Patients typically experience progressive loss of motor function and eventually those affected become wheelchair-bound, are then bedridden, and die prematurely.

About Amicus Therapeutics
Amicus Therapeutics (Nasdaq: FOLD) is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel high-quality medicines for people living with rare metabolic diseases. With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a robust pipeline of cutting-edge, first- or best-in-class medicines for rare metabolic diseases. For more information please visit the company’s website at, and follow us on Twitter and LinkedIn.

SOURCE: Amicus Therapeutics

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