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Delineation of the natural history of Ollier disease and Muffucci syndrome and investigation of their genetic bases

Award Number: U01HD107957
ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT
OPDIV: NIH
AWARD CLASS: COOPERATIVE AGREEMENT
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 02/01/2023
PERIOD OF PERFORMANCE END DATE: 01/31/2028

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Delineation of the natural history of Ollier disease and Muffucci syndrome and investigation of their genetic bases - PROJECT SUMMARY/ABSTRACT Ollier disease (OD) and Maffucci syndrome (MS) are untreatable, poorly characterized, newly recognized cancer susceptibility syndromes. Their genetic bases and pathways responsible for the formation and progression of benign and malignant tumors are not known. Our long-term goal is to identify pharmacological approaches to treat bone deformities and malignant transformation in patients with OD and MS and to prevent/treat related non- syndromic forms of cancers associated with these conditions. Our central hypothesis in this application is that OD and MS are distinct under-characterized cancer susceptibility syndromes caused by variants in multiple genes that disrupt the HIF-1 pathway. The rationale for our project is that phenotypic characterization and identification of the genetic causes of OD and MS have the potential to offer a strong scientific framework whereby new pharmacological strategies to cancer therapy in these patients and patients with the non-syndromic forms of the same cancers, such as chondrosarcomas and gliomas, can be developed. The central hypothesis will be tested by pursuing three specific aims: 1) Comprehensively define the phenotypic features of patients with OD and MS; 2) Discover the causative genes and variants of OD and MS in previously uncharacterized cases; 3) Determine the effect of causative variants of OD or MS in the HIF-1 pathway. We will pursue these aims using an innovative combination of genomic and functional techniques applied to a unique set of deeply phenotyped patients. The proposed research is significant because it will: 1) Define the natural history of novel cancer susceptibility syndromes; 2) Establish a unique OD and MS germline and tumor sample collection for research use; 3) Identify the genetic bases of untreatable cancers, and; 4) Determine the role of the HIF-1 pathway in OD and MS. Our expected outcomes are to define the responsible variants and genes that cause benign and malignant tumor formation in OD and MS and to fully elucidate the phenotypic features and natural history of these disorders. Our results will have an important positive impact providing new opportunities for the development of novel pharmacological therapies to treat patients with these diseases as well as those with related non-syndromic forms of cancers such as of chondrosarcomas and gliomas.


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 = $545,805 )
2025	2025	THE JOHNS HOPKINS UNIVERSITY	3400 N CHARLES ST	BALTIMORE	MD	21218	BALTIMORE CITY	USA	Child Health and Human Development Extramural Research	001	3	5/13/2025	NON-COMPETING CONTINUATION	$54,580
2025	2025	THE JOHNS HOPKINS UNIVERSITY	3400 N CHARLES ST	BALTIMORE	MD	21218	BALTIMORE CITY	USA	Child Health and Human Development Extramural Research	000	3	2/19/2025	NON-COMPETING CONTINUATION	$491,225
														Subtotal = $545,805

Issue Date FY: 2024 ( Subtotal = $550,444 )
2024	2024	THE JOHNS HOPKINS UNIVERSITY	3400 N CHARLES ST	BALTIMORE	MD	21218	BALTIMORE CITY	USA	Child Health and Human Development Extramural Research	000	2	1/26/2024	NON-COMPETING CONTINUATION	$500,406
2024	2024	THE JOHNS HOPKINS UNIVERSITY	3400 N CHARLES ST	BALTIMORE	MD	21218	BALTIMORE CITY	USA	Child Health and Human Development Extramural Research	002	2	9/27/2024	NON-COMPETING CONTINUATION	$0
2024	2024	THE JOHNS HOPKINS UNIVERSITY	3400 N CHARLES ST	BALTIMORE	MD	21218	BALTIMORE CITY	USA	Child Health and Human Development Extramural Research	001	2	5/2/2024	NON-COMPETING CONTINUATION	$50,038
														Subtotal = $550,444

Issue Date FY: 2023 ( Subtotal = $510,889 )
2023	2023	JOHNS HOPKINS UNIVERSITY, THE	3400 N CHARLES ST	BALTIMORE	MD	21218	BALTIMORE CITY	USA	Child Health and Human Development Extramural Research	001	1	6/30/2023	NEW	$0
2023	2023	JOHNS HOPKINS UNIVERSITY, THE	3400 N CHARLES ST	BALTIMORE	MD	21218	BALTIMORE CITY	USA	Child Health and Human Development Extramural Research	000	1	1/20/2023	NEW	$510,889
														Subtotal = $510,889

Grand Total All Awards = $1,607,138

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Delineation of the natural history of Ollier disease and Muffucci syndrome and investigation of their genetic bases

Award Number: U01HD107957

ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT

OPDIV: NIH

AWARD CLASS: COOPERATIVE AGREEMENT

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

PERIOD OF PERFORMANCE START DATE: 02/01/2023

PERIOD OF PERFORMANCE END DATE: 01/31/2028

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