Characterization of Diabetes Mellitus in Fibrous Dysplasia/McCune-Albright Syndrome



Status:Recruiting
Conditions:Cancer, Other Indications, Diabetes
Therapuetic Areas:Endocrinology, Oncology, Other
Healthy:No
Age Range:18 - Any
Updated:8/11/2018
Start Date:August 7, 2018
End Date:August 2021
Contact:Cemre Robinson, MD
Email:cemre.robinson@yale.edu
Phone:(203) 737-3784

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The investigators' objective is to understand the pathogenesis of diabetes mellitus in
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) by: 1) establishing the contributions of
insulin resistance versus impaired insulin secretion, 2) investigating presence of excess
glucagon signaling by measuring gluconeogenesis and glycogenolysis, and 3) investigating a
potential interaction between diabetes and intraductal papillary mucinous neoplasms (IPMNs).

Specific project aims include:

Aim 1: Determine insulin secretion and sensitivity in subjects with MAS-associated diabetes.

Aim 2: Measure gluconeogenesis and glycogenolysis in MAS-associated diabetes to investigate a
potential role for excess glucagon signaling.

Aim 3: Determine if IPMN development is associated with impairment of insulin secretion prior
to development of overt diabetes.

The authors expect that this study will:

1. Establish the etiology of diabetes in FD/MAS

2. Increase understanding of the role of IPMNs in pathogenesis of diabetes

3. Provide critical insights into the pathogenesis of diabetes in FD/MAS

Inclusion Criteria:

Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) group:

- Must be diagnosed based on clinical grounds and/or mutation testing on bone and/or
affected tissue

Control group:

- Must be at least 18 years old

Exclusion Criteria:

Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) group:

- Unwilling to fully cooperate with the evaluation

- Unable to provide informed consent

Control group:

- History of diabetes, insulin resistance, pancreatic disease, pancreatic cysts or
amylase/lipase abnormality

- Use of any type of oral diabetes medications and/or insulin

- Unable to provide informed consent
We found this trial at
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20 York St, N20 York St,
New Haven, Connecticut 06520
(203) 688-4242
Phone: 203-785-5809
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