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Abstract Details

Age-at-onset and Time-to-event of Core Features in CLN3 (Batten) Disease
Child Neurology and Developmental Neurology
P13 - Poster Session 13 (5:30 PM-6:30 PM)
5-007
To determine the age-at-onset of core clinical features of CLN3 disease and how they align with parent priorities.
CLN3 disease (Juvenile Batten Disease) is characterized by vision loss, epilepsy, dementia, and a movement disorder. Most individuals also have disordered behavior, sleep, and feeding. Knowing the age-at-onset and meaningfulness of these core features can inform the design of future clinical trials.
 We used the Unified Batten Disease Rating Scale (UBDRS), to collect natural history data on CLN3 disease over 17 years, including estimated age-at-onset of core features. Separately, we asked 57 parents about treatment priorities.

 
We obtained data from 102 individuals and found a characteristic sequence of symptom onset with small but significant sex differences (t-test; p<0.05*). The average (±SD) symptom age-at-onset (in years) was: vision (Male: 5.6 ± 1.5 Female: 6.6 ± 1.6)*, behavior (M: 7.4 ± 3.8 F: 8.4 ± 4.0)*, cognition (M: 8.0 ± 3.5 F: 8.1 ± 3.0), seizures (M: 9.9 ± 2.7 F: 10.0 ± 2.0), sleep (M: 8.9 ± 5.4 F: 11.1 ± 5.6)*, motor (M: 12.1 ± 4.1 F: 10.9 ± 3.8), and feeding (M: 19.8 ± 2.5 F: 16.4 ± 2.9)*. For the total sample the average time from onset of one feature to the next was 2 years. Major parent-reported symptom priorities included vision (21%), seizures (24%), dementia (16%), motor/mobility (22%), and mood/behavior (10%). 
CLN3 disease progresses in a characteristic manner at a predictable rate based on time and sequence of core symptom onset, with slight sex differences for some symptoms. The core symptoms aligned well with the parent priorities, indicating that these symptoms are meaningful to families. Our results support the possible use of a time-to-event analysis in experimental therapeutic research. Used in combination with measures of symptom severity, these data contribute to a comprehensive picture of CLN3 disease natural history.
Authors/Disclosures
Margaux C. Masten, Undergraduate
PRESENTER 		The institution of Miss Masten has received research support from Â鶹´«Ã½Ó³»­. The institution of Miss Masten has received research support from Neurogene. The institution of Miss Masten has received research support from Amicus. The institution of Miss Masten has received research support from Beyond Batten Disease Foundation. The institution of Miss Masten has received research support from NIH.
Jennifer A. Vermilion, MD (University of Rochester) The institution of Dr. Vermilion has received research support from Centers for Disease Control. The institution of Dr. Vermilion has received research support from Emalex Biosciences. The institution of Dr. Vermilion has received research support from Biomarin. The institution of Dr. Vermilion has received research support from Neurogene, Inc. Dr. Vermilion has received personal compensation in the range of $500-$4,999 for serving as a Invited Speaker with Tourette Association of America. Dr. Vermilion has received personal compensation in the range of $500-$4,999 for serving as a Invited Speaker with Centers for Disease Control and Prevention and American Academy of Pediatrics.
Heather Adams The institution of Heather Adams has received research support from Current: NIH; Past: Abeona; Batten Research Alliance; American University Centers on Disabilities. An immediate family member of Heather Adams has received publishing royalties from a publication relating to health care. Heather Adams has received personal compensation in the range of $500-$4,999 for serving as a Consultant with Critical Path Institute.
Amy Vierhile, NP, DNP (University of Rochester Medical Center) Ms. Vierhile has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Greenwich Biosciences.
Frederick J. Marshall, MD The institution of Dr. Marshall has received research support from CHDI. The institution of Dr. Marshall has received research support from Huntington Study Group.
No disclosure on file
Erika F. Augustine, MD, FÂ鶹´«Ã½Ó³»­ (Kennedy Krieger Institute) The institution of Dr. Augustine has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Latus Bio. Dr. Augustine has received personal compensation in the range of $10,000-$49,999 for serving as an officer or member of the Board of Directors for American Board of Psychiatry and Neurology. Dr. Augustine has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Annals of Neurology. The institution of Dr. Augustine has received research support from NIH. The institution of Dr. Augustine has received research support from Beyond Batten Disease Foundation. Dr. Augustine has received publishing royalties from a publication relating to health care. Dr. Augustine has a non-compensated relationship as a Member, Board of Directors with American Brain Foundation that is relevant to Â鶹´«Ã½Ó³»­ interests or activities. Dr. Augustine has a non-compensated relationship as a Scientific Advisor with ARIA that is relevant to Â鶹´«Ã½Ó³»­ interests or activities.
Jonathan W. Mink, MD, PhD, FÂ鶹´«Ã½Ó³»­ The institution of Dr. Mink has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amicus. The institution of Dr. Mink has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Neurogene. Dr. Mink has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for TEVA. Dr. Mink has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for PTC Therapeutics. Dr. Mink has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Applied Therapeutics. Dr. Mink has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Â鶹´«Ã½Ó³»­. The institution of Dr. Mink has received research support from Neurogene. The institution of Dr. Mink has received research support from NIH. Dr. Mink has received publishing royalties from a publication relating to health care. Dr. Mink has received personal compensation in the range of $500-$4,999 for serving as a Member, Study Section with NINDS.