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Calcium Dysregulation and Cell Function in Spinal Muscular Atrophy

Award Number: R01NS119594
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: 01/20/2021
PERIOD OF PERFORMANCE END DATE: 12/31/2025

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Calcium Dysregulation and Cell Function in Spinal Muscular Atrophy - PROJECT SUMMARY/ABSTRACT Spinal muscular atrophy (SMA) is one of the most common inherited cause of death in infants and young children. SMA is caused by the deletion or mutation in the survival of motor neuron 1 (SMN1) gene, leading to a deficiency of the ubiquitously expressed SMN protein. Recent approved therapies increase SMN protein and partially correct the motor neuron loss and muscle degeneration that are hallmarks of the disease. However, SMA patients require critical care as a result of cardiopulmonary impairment and opportunistic infections. This observation, together with extensive new preliminary data, leads us to hypothesize that SMN-deficiency impairs cardiomyocyte function, representing a previously unrecognized contribution of the cardiovascular system on SMA disease pathology. To test this hypothesis, we will use primary cardiomyocytes from a mouse model of the disease and human cardiomyocytes derived from SMA patient induced pluripotent stem cells (iPSC) to determine the consequences of SMN deficiency on contractile function (Aim 1), the molecular mechanisms leading to impaired contraction (Aim 2), and characterize cardiovascular deficiencies following SMN restoration in SMA mice (Aim 3). The preliminary results using our unique approach are already providing novel mechanistic insight into a poorly understood aspect of the SMA disease process which could be critically important when designing strategies to manage the disease clinically.


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 = $343,117 )
2025	2025	THE HENRY M. JACKSON FOUNDATION FOR THE ADVANCEMENT OF MILITARY MEDICINE, INC.	6720A ROCKLEDGE DR	BETHESDA	MD	20817	MONTGOMERY	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	5	2/17/2025	NON-COMPETING CONTINUATION	$343,117
														Subtotal = $343,117

Issue Date FY: 2024 ( Subtotal = $369,803 )
2024	2024	THE HENRY M. JACKSON FOUNDATION FOR THE ADVANCEMENT OF MILITARY MEDICINE, INC.	6720A ROCKLEDGE DR	BETHESDA	MD	20817	MONTGOMERY	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	4	12/29/2023	NON-COMPETING CONTINUATION	$343,117
2024	2024	THE HENRY M. JACKSON FOUNDATION FOR THE ADVANCEMENT OF MILITARY MEDICINE, INC.	6720A ROCKLEDGE DR	BETHESDA	MD	20817	MONTGOMERY	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	4	4/18/2024	NON-COMPETING CONTINUATION	$26,686
														Subtotal = $369,803

Issue Date FY: 2023 ( Subtotal = $409,799 )
2023	2023	HENRY M. JACKSON FOUNDATION FOR THE ADVANCEMENT OF MILITARY MEDICINE, INC., THE	6720-A ROCKLEDGE DR STE 100	BETHESDA	MD	20817	MONTGOMERY	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	002	3	2/2/2023	NON-COMPETING CONTINUATION	$38,123
2023	2023	HENRY M. JACKSON FOUNDATION FOR THE ADVANCEMENT OF MILITARY MEDICINE, INC., THE	6720-A ROCKLEDGE DR STE 100	BETHESDA	MD	20817	MONTGOMERY	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	3	1/26/2023	SUPPLEMENT FOR EXPANSION	$28,559
2023	2023	HENRY M. JACKSON FOUNDATION FOR THE ADVANCEMENT OF MILITARY MEDICINE, INC., THE	6720-A ROCKLEDGE DR STE 100	BETHESDA	MD	20817	MONTGOMERY	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	3	1/12/2023	NON-COMPETING CONTINUATION	$343,117
														Subtotal = $409,799

Issue Date FY: 2022 ( Subtotal = $409,799 )
2022	2022	HENRY M. JACKSON FOUNDATION FOR THE ADVANCEMENT OF MILITARY MEDICINE, INC., THE	6720-A ROCKLEDGE DR STE 100	BETHESDA	MD	20817	MONTGOMERY	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	2	12/21/2021	NON-COMPETING CONTINUATION	$343,115
2022	2022	HENRY M. JACKSON FOUNDATION FOR THE ADVANCEMENT OF MILITARY MEDICINE, INC., THE	6720-A ROCKLEDGE DR STE 100	BETHESDA	MD	20817	MONTGOMERY	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	002	2	7/15/2022	SUPPLEMENT FOR EXPANSION	$28,559
2022	2022	HENRY M. JACKSON FOUNDATION FOR THE ADVANCEMENT OF MILITARY MEDICINE, INC., THE	6720-A ROCKLEDGE DR STE 100	BETHESDA	MD	20817	MONTGOMERY	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	2	3/24/2022	NON-COMPETING CONTINUATION	$38,125
														Subtotal = $409,799

Issue Date FY: 2021 ( Subtotal = $381,240 )
2021	2021	HENRY M. JACKSON FOUNDATION FOR THE ADVANCEMENT OF MILITARY MEDICINE, INC., THE	6720-A ROCKLEDGE DR STE 100	BETHESDA	MD	20817	MONTGOMERY	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	1	1/20/2021	NEW	$381,240
														Subtotal = $381,240

Grand Total All Awards = $1,913,758

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Calcium Dysregulation and Cell Function in Spinal Muscular Atrophy

Award Number: R01NS119594

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: 01/20/2021

PERIOD OF PERFORMANCE END DATE: 12/31/2025

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