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CRANBURY, NJ, Oct 12, 2020 (GLOBE NEWSWIRE) – Amicus Therapeutics (Nasdaq: FOLD) today announced additional positive interim results from its Batten disease CLN6 gene therapy program, AT-GTX-501. The results are presented in a virtual poster presentation at the 16th Joint International Congress of Child Neurology and the 49th Annual Meeting of the Society for Child Neurology which will be held October 12-23, 2020. The presentation is also available in the Events and Presentations section of the Amicus Therapeutics website. at

The Abigail Wexner Research Institute (AWRI) at Nationwide Children’s Hospital is conducting the ongoing Phase 1/2 clinical study of a single intrathecal administration of AT-GTX-501 gene therapy for the neuronal ceroid variant lipofuscinosis 6 (vLINCL6 ). disease, also known as CLN6 Batten disease. In the absence of approved treatments, Batten disease CLN6 is a fatal neurological disease that rapidly robs children of their ability to walk, speak, think and see.

Highlights of clinical data:
Provisional safety data is available for 13 children with Batten disease CLN6. Provisional efficacy data are available for the first 12 children reaching the 12 month time point and for eight children up to 24 months after administration of AAV-CLN6 gene therapy.

  • Safety (n = 13): Treatment with AT-GTX-501 was generally well tolerated. The majority of adverse events (AEs) were mild and unrelated to treatment. No pattern of adverse events related to the immunogenicity of AAV or CLN6 was observed. Further details are provided in the presentation.
  • Overall Hamburg score for motor skills and language (n =12): The Hamburg Motor & Language Score, an assessment of walking and speaking, shows a significant effect in slowing disease progression at 12 and 24 months:
    • On a combined scale of 0 to 6, the mean rate of decline was 0.4 vs. 1.2 points over 12 months in treated patients (n = 12) compared to subjects in the natural history cohort (n = 16).
    • On a combined scale of 0 to 6, the mean rate of decline was 0.6 versus 2.4 points over 24 months in treated patients (n = 8) compared to subjects in the natural history cohort (n = 16).
  • Natural History (n =16): Within the natural history cohort, two years after their first decline in Hamburg score for motor skills and language, 63% of subjects experienced an additional 2 point drop (10 out of 16), compared to only 13% of treated patients (1 in 8).

Jeff Castelli, Ph.D., Director of Development for Amicus Therapeutics, said, “We are delighted to share this positive interim clinical data for our intrathecal AAV gene therapy with the CLN6 community. Data continues to suggest that our gene therapy has the potential to be a treatment option for children living with Batten disease CLN6, an ultra-rare, debilitating disease that causes progressive decline in cognitive and motor function, and often results in death at the beginning of life. “

Emily de los Reyes, MD, Ph.D., principal investigator of the CLN6 clinical trial at AWRI at Nationwide Children’s and professor of clinical pediatrics and neurology at Ohio State University College of Medicine, said: “I remains satisfied with the progress of this trial as well as our collection of natural history data to further inform the results of AAV-CLN6 gene therapy. Intermediate results show that this experimental gene therapy has the potential to slow the progression of neurological disease in children with Batten disease CLN6. “

Regulatory interactions for AT-GTX-501 are ongoing and the Company plans to provide commentary on the way forward in 2021.

Amicus holds the exclusive rights to the CLN6 gene therapy program developed at the Abigail Wexner Research Institute of Nationwide Children’s Hospital.

About the AT-GTX-501
AT-GTX-501 is a new gene therapy in phase 1/2 development for CLN6 Batten disease, a rare, fatal, inherited lysosomal disease without approved treatment that primarily affects the nervous system. AT-GTX-501 is administered as a single intrathecal infusion to deliver a functional copy of the CLN6 gene to cells of the central nervous system. The therapy is designed to remedy the underlying enzyme deficiency that results in progressive cell damage and neurodevelopmental and physical decline. In the United States, AT-GTX-501 has received Rare Pediatric Disease and Orphan Drug Designations from the United States Food and Drug Administration. In the EU, the Company holds the designations PRIME and orphan drugs.

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

Most forms of Batten / NCL disease usually begin in childhood. The clinical course often involves a gradual loss of independent coping skills such as mobility, nutrition and communication. Patients can also experience vision loss, personality changes, behavioral problems, learning disabilities, and seizures. Patients usually experience a gradual loss of motor function and end up in a wheelchair, then bedridden and die prematurely.

About Amicus Therapeutics
Amicus Therapeutics (Nasdaq: FOLD) is a global patient-focused biotechnology company focused on the discovery, development and delivery of new, high-quality drugs for people living with rare metabolic diseases. With a focus on the patient, Amicus Therapeutics is committed to advancing and expanding a strong portfolio of cutting-edge, first-rate or first-rate drugs for rare metabolic diseases. For more information, please visit the company’s website at and follow Twitter and LinkedIn.

Forward-looking statements
This press release contains “forward-looking statements” within the meaning of the Private Securities Litigation Reform Act of 1995 regarding the preclinical and clinical development of our product candidates, the timing and communication of the results of preclinical studies and clinical trials, and the outlook and timeline for potential regulatory approval of our product candidates. In particular, this press release concerns interim data from an ongoing Phase 1/2 study to investigate intrathecal administration of AAV-CLN6 gene therapy. The inclusion of forward-looking statements arising from such interim data, current study, and preliminary natural history data should not be taken as a representation by us that any of our plans will be achieved. All or part of the forward-looking statements contained in this press release may prove to be incorrect and may be affected by inaccurate assumptions that we may make or by known or unknown risks and uncertainties. For example, with respect to statements regarding the objectives, progress, timing and results of discussions with regulatory authorities, and in particular the potential objectives, progress, timing and results of preclinical studies and clinical trials , actual results may differ materially from those stated in this release due to the risks and uncertainties inherent in our business, including, without limitation: the potential that the results of clinical or preclinical studies indicate that product candidates are dangerous or ineffective; the possibility that it will be difficult to enroll patients in our clinical trials; the potential that regulatory authorities, including the FDA, EMA and PMDA, will not grant or may delay approval of our product candidates; the possibility that preclinical and clinical studies may be delayed because we identify serious side effects or other safety concerns; and the possibility that we may need additional funds to complete all of our studies. In addition, the results of preclinical studies and / or previous clinical trials may not be predictive of future results. The interim data and the Phase 1/2 study discussed here are inherently preliminary and early in the study, derived from a limited set of patients, and the results of subsequent trials with this or other set of patients may. not be consistent with these preliminary results. In addition, all forward-looking statements are subject to other risks detailed in our Annual Report on Form 10-K for the year ended December 31, 2019 and our Quarterly Report on Form 10-Q for the quarter ended June 30, 2020 You are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date hereof. All forward-looking statements are qualified in their entirety by this cautionary statement, and we assume no obligation to revise or update this press release to reflect events or circumstances after the date hereof.


Therapeutic Amicus
Andrew Faughnan
Director, Investor Relations
[email protected]
(609) 662-3809

Therapeutic Amicus
Diana moore
Head of Global Corporate Communication
[email protected]
(609) 662-5079


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