Amicus Announces Positive Interim Clinical Data for AAV Gene Therapy in Children with CLN6 Batten Disease
Study Shows Meaningful Impact on Motor and Language Function in Children with Fatal Neurologic Disease
Evidence of Disease Stabilization in 7 of 8 Children with Data for up to 2 Years Post-Treatment
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Interim efficacy data are available for the first eight children with CLN6 Batten disease for up to 24 months post-administration of the AAV-CLN6 gene therapy. The Hamburg Motor & Language Score, an assessment of ambulation and speech, showed that the AAV-CLN6 gene therapy demonstrated a positive impact on motor and language function compared to a natural history dataset, as well as in comparisons within sibling pairs. Treatment with AAV-CLN6 gene therapy was generally well tolerated. This intrathecal AAV-CLN6 gene therapy uses the same capsid as the recently
More detailed information on the initial clinical results can be found in the Events and Presentations section of the
Clinical Data Highlights:
- Safety (n=12): The majority of adverse events (AEs) were mild and unrelated to treatment in a total of 12 patients in the clinical study (exposure duration 6 to 39 months). No pattern of AEs related to anti-AAV capsid or anti-CLN6 immunogenicity were observed.
- Hamburg Motor & Language (n=8): As of the interim analysis from this ongoing study, efficacy data show a positive impact on motor and language function for 7 of 8 patients treated. These eight patients are from 16-25 months post-administration of the gene therapy as of this data cutoff. Seven patients (treated at 19 to 66 months of age) maintained their
Hamburgscore or had an initial change (ranging from +1 to -1 points) followed by stabilization. The oldest patient in the study (treated at 79 months of age) had a 2 point decline.
- Hamburg Motor & Language in Sibling Pairs: Three treated patients demonstrated stabilization relative to their untreated siblings in the natural history data set who experienced substantial declines in motor and language ability or died over the same time period. For the two pairs of in-study siblings, the younger siblings demonstrated an increase or stabilization in their score compared to their older siblings who had an initial change followed by stabilization.
- Hamburg Motor & Language Natural History (n=14): An initial natural history cohort from Nationwide Children’s shows disease progression in all untreated patients, with at least a 2- to 3-point decline in Hamburg Motor & Language score from the initial point of decline over 24 months.
The Hamburg Motor & Language Score (0-6) separately measures performance of mobility (0-3) and speech (0-3). For each domain, a 3 represents the child’s normal function and a 0 represents no ability to walk or speak, with each point decline representing significant impairment. Children living with CLN6 Batten disease often experience typical development for the first few years of life. Following symptom onset, natural history indicates that there often is a rapid progression from a 6 to a 0 score within 3-4 years (or a 1-2 point annual decline).
Dr. Kaspar added, “I am thrilled to see these clinical results for AAV-CLN6 gene therapy. It is gratifying to see the teamwork between Nationwide Children’s and Sanford researchers and clinicians to translate gene therapy from preclinical animal studies to humans, leading to the current data which demonstrate evidence for safety and initial efficacy in the first children treated. I believe this AAV-CLN6 gene therapy has the potential to make a very meaningful impact for children with CLN6 Batten disease, and provides great promise to address many types of Batten disease and other neurologic disorders.”
Upcoming Amicus Milestones in Next 12 Months:
- Presentation of additional data measures in the eight initial patients at the Amicus Analyst Day this Fall and in a poster presentation by Dr. de los Reyes at the
Child Neurology SocietyAnnual Meeting, October 23-26, 2019( Charlotte, NC).
- Collection and presentation of additional natural history data in CLN6 Batten disease
- Dosing of additional patients
- Advance regulatory discussions
- Manufacturing of additional AAV-CLN6 gene therapy underway at Thermo Fisher (
- Continued advancement of AAV gene therapy programs in CLN3, CLN8 and CLN1 Batten disease.
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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 become wheelchair-bound, are then bedridden, and die prematurely.
This press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995 relating to preclinical and clinical development of our product candidates, the timing and reporting of results from preclinical studies and clinical trials and the prospects and timing of the potential regulatory approval of our product candidates. In particular, this press release relates to 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 this interim data, ongoing study and natural history preliminary data should not be regarded as a representation by us that any of our plans will be achieved. Any or all of the forward-looking statements in this press release may turn out to be wrong and can be affected by inaccurate assumptions we might make or by known or unknown risks and uncertainties. For example, with respect to statements regarding the goals, progress, timing, and outcomes of discussions with regulatory authorities, and in particular the potential goals, progress, timing, and results of preclinical studies and clinical trials, actual results may differ materially from those set forth in this release due to the risks and uncertainties inherent in our business, including, without limitation: the potential that results of clinical or preclinical studies indicate that the product candidates are unsafe or ineffective; the potential that it may be difficult to enroll patients in our clinical trials; the potential that regulatory authorities, including the
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Source: Amicus Therapeutics, Inc.