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

Yale University

Status: Withdrawn

Conditions: McCune-Albright Syndrome; Diabetes Mellitus; Intraductal Papillary Mucinous Neoplasm; Fibrous Dysplasia

Treatments: Procedure: Hyperglycemic Clamp; Procedure: Hyperinsulinemic Euglycemic Clamp and 2H20; Diagnostic Test: Oral Glucose Tolerance Test

Study type: Observational

Funder types: Other

Identifiers

NCT03520153

2000022658

Details and patient eligibility

About

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).

Full description

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:

Establish the etiology of diabetes in FD/MAS Increase understanding of the role of IPMNs in pathogenesis of diabetes Provide critical insights into the pathogenesis of diabetes in FD/MAS

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

0 participants in 5 patient groups

FD/MAS with diabetes mellitus

Description:

Fibrous Dysplasia/McCune-Albright Syndrome with diabetes mellitus. Participants will receive the following interventions: Hyperinsulinemic Euglycemic Clamp and 2H20; Hyperglycemic Clamp; and Oral Glucose Tolerance Test.

Treatment:

Diagnostic Test: Oral Glucose Tolerance Test

Procedure: Hyperinsulinemic Euglycemic Clamp and 2H20

Procedure: Hyperglycemic Clamp

FD/MAS without diabetes mellitus

Description:

Fibrous Dysplasia/McCune-Albright Syndrome without diabetes mellitus. Participants will receive the following interventions: Hyperinsulinemic Euglycemic Clamp and 2H20; Hyperglycemic Clamp; and Oral Glucose Tolerance Test.

Treatment:

Diagnostic Test: Oral Glucose Tolerance Test

Procedure: Hyperinsulinemic Euglycemic Clamp and 2H20

Procedure: Hyperglycemic Clamp

FD/MAS without diabetes and without IPMN

Description:

Fibrous Dysplasia/McCune-Albright Syndrome without diabetes mellitus and without intraductal papillary mucinous neoplasms. Participants will receive the following interventions: Hyperinsulinemic Euglycemic Clamp and 2H20; Hyperglycemic Clamp; and Oral Glucose Tolerance Test.

Treatment:

Diagnostic Test: Oral Glucose Tolerance Test

Procedure: Hyperinsulinemic Euglycemic Clamp and 2H20

Procedure: Hyperglycemic Clamp

FD/MAS without diabetes and with IPMN

Description:

Fibrous Dysplasia/McCune-Albright Syndrome without diabetes mellitus and with intraductal papillary mucinous neoplasms. Participants will receive the following interventions: Hyperinsulinemic Euglycemic Clamp and 2H20; Hyperglycemic Clamp; and Oral Glucose Tolerance Test.

Treatment:

Diagnostic Test: Oral Glucose Tolerance Test

Procedure: Hyperinsulinemic Euglycemic Clamp and 2H20

Procedure: Hyperglycemic Clamp

Healthy Controls

Description:

Participants will receive the following interventions: Hyperinsulinemic Euglycemic Clamp and 2H20; Hyperglycemic Clamp; and Oral Glucose Tolerance Test.

Treatment:

Diagnostic Test: Oral Glucose Tolerance Test

Procedure: Hyperinsulinemic Euglycemic Clamp and 2H20

Procedure: Hyperglycemic Clamp