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Exploring the pathophysiology of KCTD11-related CMT neuropathy

Award Number: R03NS151642
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: 08/10/2026
PERIOD OF PERFORMANCE END DATE: 07/31/2028

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Exploring the pathophysiology of KCTD11-related CMT neuropathy - “Exploringthe pathophysiology of KCTD11-related CMT neuropathy” Charcot– Marie – Tooth disease (CMT) is the most common inherited peripheral neuropathy, affecting 1 in 2,500 individuals. Despite the identification of more than 125 causative genes, disease remain poorly understood and no disease-modifying therapies exist. Recently, mutations in have been discovered as the cause of a novel recessive intermediate form of CMT (RI-CMTE). Patients with progressive neuropathy and abnormal myelination, but the cellular and molecular basis of disease unknown. unclear models progress. peripheral KCTD11 by neuropathy, recognized studies suggest that loss of KCTD11 function disrupts peripheral nerve homeostasis, yet it is whether this results primarily from Schwann cell dysfunction, motor neuron vulnerability, or both. Current are insufficient to dissect these contributions, limiting mechanistic understanding and preclinical This project will generate new, patient-relevant experimental models to study the role of KCTD11 in nerve biology. By combining genetic, cellular, and molecular approaches, we will investigate how deficiency compromises myelin integrity and axon-glial communication. studies are designed to clarify t he cellular rigins of RI-CMTE, define the pathways destabilized KCTD11 mutations. The proposed work will deliver the first mechanistic framework for KCTD11-related fill a critical gap in CMT research, and provide a community resource for the study of this newly disease subtype. Preliminary These o


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: 2026 ( Subtotal = $164,000 )
2026	2026	ALBANY MEDICAL COLLEGE	47 NEW SCOTLAND AVE # A34	ALBANY	NY	12208	ALBANY	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	1	8/7/2026	NEW	$164,000
														Subtotal = $164,000

Grand Total All Awards = $164,000

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Exploring the pathophysiology of KCTD11-related CMT neuropathy

Award Number: R03NS151642

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: 08/10/2026

PERIOD OF PERFORMANCE END DATE: 07/31/2028

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