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Initial data suggest early signs of disease stabilization in children with Fatal neurological disease

Plan to submit an IND for the next clinical study in 2H2021

PHILADELPHIA, Feb. 08, 2021 (GLOBE NEWSWIRE) – Amicus Therapeutics (Nasdaq: FOLD) today announced the first positive results of its first human study of its gene therapy program for CLN3 Batten disease, AT-GTX -502. The results are presented in a virtual poster presentation at 17e Annual WORLDSymposiumâ„¢ 2021, which will take place from February 8 to 12, 2021. The poster is also available in the Events and presentations section section from the Amicus Therapeutics corporate website.

The Abigail Wexner Research Institute (AWRI) at Nationwide Children’s Hospital is conducting the ongoing Phase 1/2 clinical study of a single administration of AT-GTX-502 gene therapy for classical juvenile neuronal ceroid lipofuscinosis (JNCL), also known as CLN3 Batten Disease. In the absence of approved treatments, Batten disease CLN3 is a fatal neurological disease that results in blindness, motor impairment, learning difficulties, epilepsy, and ultimately premature death.

Primary outcome measures are determined using the Batten Disease Assessment Scale (UBDRS) Physical Impairment Subscale, a clinical assessment instrument developed specifically to assess disease progression in children with verified JNCL and includes assessments of motor, behavioral, epileptic and functional abilities. UBDRS separately assesses measurements of vision, motor skills, speech, tone and abnormal movements over time. Higher scores indicate greater physical impairment.

Highlights of clinical data:
Initial safety data is available for the first four children up to 15 months after administration of AAV-CLN3 gene therapy. Preliminary efficacy data are available for the first three children with Batten disease CLN3 in the low dose cohort up to 15 months after administration of AAV-CLN3 gene therapy, as well as for a participant with Batten disease CLN3 in the high dose cohort up to 3 months after administration of AAV-CLN3 gene therapy. Initial results from the study suggest that AT-GTX-502 was well tolerated and showed potential early signs of disease stabilization compared to a natural history data set.

  • Safety (n = 4): Treatment with AT-GTX-502 was generally well tolerated. The majority of adverse events (AEs) were mild or moderate and unrelated to treatment. No AE profile related to the immunogenicity of AAV or CLN3 was observed. Further details are provided in the presentation.
  • Unified Slat Disease Rating Scale: For the three treated subjects in the low dose cohort (n = 3), the mean annual rate of change in UBDRS physical impairment scores was +0.07 over 12 months vs. +2.86 in untreated subjects of published natural history (n = 82).

Jeff Castelli, Ph.D., Director of Development for Amicus Therapeutics, said: “We are delighted to share this first clinical data set for our intrathecal AAV gene therapy for CLN3 Batten disease and the second clinical program of our Batten wallet. Preliminary results from this analysis suggest early signs of disease stabilization and have the potential to slow the progression of neurological disease in children with CLN3 Batten disease. We are encouraged by the data and hope to have a significant impact for people living with CLN3 Batten disease, an ultra-rare and devastating neurodegenerative disease without approved treatment. “

Emily de los Reyes, MD, Ph.D., principal investigator at Nationwide Children’s and professor of clinical pediatrics and neurology at Ohio State University College of Medicine is leading the CLN3 clinical trial at AWRI.

Regulatory interactions for AT-GTX-502 are ongoing and the Company plans to provide feedback on the upcoming clinical pathway later this year.

Amicus owns the exclusive licensed rights to the CLN3 gene therapy program developed at the Abigail Wexner Research Institute of Nationwide Children’s Hospital.

About the AT-GTX-502
AT-GTX-502 is a new gene therapy in phase 1/2 development for CLN3 Batten disease, a rare, fatal, inherited lysosomal disease without approved treatment that primarily affects the nervous system. AT-GTX-502 is given as a single infusion to deliver a functional copy of the CLN3 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-502 has achieved Fast Track designation and Rare Pediatric designation from the United States Food and Drug Administration. AT-GTX-502 also holds orphan drug designations in the US and EU.

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 lipofuscinosis ceroids, or NCLs. 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 its 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 vary in severity and age of onset.

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. Affected children can also experience vision loss, personality changes, behavioral problems, learning disabilities, and seizures. Children with Batten disease 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 leading, first-order or first-order 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-CLN3 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 realized. 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 provisional data and the Phase 1/2 study discussed here are inherently preliminary and at the start of 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 September 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
Senior 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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