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Reading Frame Correction for the Treatment of Batten Disease

Award Number: R01NS113233
ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 05/01/2020
PERIOD OF PERFORMANCE END DATE: 03/31/2025

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Reading Frame Correction for the Treatment of Batten Disease - CLN3 Batten disease is a fatal lysosomal storage disorder (LSD) resulting from autosomal recessive mutations in CLN3. The disease progresses from vision loss in early childhood to seizures, motor decline, cognitive disability and dementia, with a typical life expectancy of 15-30 years of age. There is no cure for CLN3 Batten and the only treatments available address some disease symptoms, but do not delay disease progression. The discovery of an effective treatment for CLN3 Batten has been hindered by a lack of understanding of the protein's function and the underlying mechanisms leading to neurodegeneration. The goal of this proposal is to test a therapeutic approach for CLN3 Batten that employs antisense oligonucleotides (ASOs) and in so doing, elucidate mechanisms of neurodegeneration in this disease that will inform research and discovery of effective treatments for Batten diseases and other LSDs. Most cases of CLN3 Batten are caused by deletion of exons 7 and 8 (CLN3Δ78), which results in an open reading frame shift and a premature termination codon. We hypothesize that using ASOs to redirect pre-mRNA splicing and correct the reading frame of CLN3Δ78 mRNA will partially restore protein function and have a therapeutic effect in CLN3 Batten disease. Our preliminary findings support our hypothesis, demonstrating that restoring the CLN3Δ78 reading frame alleviates dysfunction associated with disease in both cell and animal models. We will test our hypothesis in the proposed project with the aims to 1) compare the function of the wild type and novel CLN3 isoforms, 2) develop an approach using ASOs to increase CLN3Δex78 isoforms, 3) assess ASO treatments for CLN3 Batten disease using human cell lines as well as mouse and 4) porcine models of CLN3 Batten disease. Collectively, this study will allow us to better understand the function of the CLN3 protein and the utility of ASOs in treating CLN3 Batten disease.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2025 ( Subtotal = -$317,360 )
2025	2023	ROSALIND FRANKLIN UNIVERSITY OF MEDICINE & SCIENCE	3333 GREEN BAY RD	NORTH CHICAGO	IL	60064	LAKE	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	4	1/21/2025	NON-COMPETING CONTINUATION	-$317,360
2025	2023	REGENTS OF THE UNIVERSITY OF MICHIGAN	1109 GEDDES AVE, SUITE 3300	ANN ARBOR	MI	48109	WASHTENAW	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	5	1/21/2025	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$317,360
2025	2023	REGENTS OF THE UNIVERSITY OF MICHIGAN	1109 GEDDES AVE STE 3300	ANN ARBOR	MI	48109	WASHTENAW	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	002	5	6/18/2025	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	-$317,360
														Subtotal = -$317,360

Issue Date FY: 2024 ( Subtotal = $303,420 )
2024	2023	ROSALIND FRANKLIN UNIVERSITY OF MEDICINE & SCIENCE	3333 GREEN BAY RD	NORTH CHICAGO	IL	60064	LAKE	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	4	1/9/2024	NON-COMPETING CONTINUATION	$0
2024	2023	REGENTS OF THE UNIVERSITY OF MICHIGAN	1109 GEDDES AVE, SUITE 3300	ANN ARBOR	MI	48109	WASHTENAW	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	5	1/10/2024	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$303,420
														Subtotal = $303,420

Issue Date FY: 2023 ( Subtotal = $581,344 )
2023	2023	ROSALIND FRANKLIN UNIVERSITY OF MEDICINE & SCIENCE	3333 GREEN BAY RD	NORTH CHICAGO	IL	60064	LAKE	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	4	3/30/2023	NON-COMPETING CONTINUATION	$581,344
														Subtotal = $581,344

Issue Date FY: 2022 ( Subtotal = $555,821 )
2022	2022	ROSALIND FRANKLIN UNIVERSITY OF MEDICINE AND SCIENCE	3333 GREEN BAY RD	NORTH CHICAGO	IL	60064	LAKE	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	3	3/25/2022	NON-COMPETING CONTINUATION	$555,821
														Subtotal = $555,821

Issue Date FY: 2021 ( Subtotal = $609,223 )
2021	2021	ROSALIND FRANKLIN UNIVERSITY OF MEDICINE AND SCIENCE	3333 GREEN BAY RD	NORTH CHICAGO	IL	60064	LAKE	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	2	4/3/2021	NON-COMPETING CONTINUATION	$609,223
														Subtotal = $609,223

Issue Date FY: 2020 ( Subtotal = $572,075 )
2020	2020	ROSALIND FRANKLIN UNIVERSITY OF MEDICINE AND SCIENCE	3333 GREEN BAY RD	NORTH CHICAGO	IL	60064	LAKE	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	1	4/16/2020	NEW	$572,075
														Subtotal = $572,075

Grand Total All Awards = $2,304,523

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Reading Frame Correction for the Treatment of Batten Disease

Award Number: R01NS113233

ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 05/01/2020

PERIOD OF PERFORMANCE END DATE: 03/31/2025

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