Status:
TERMINATED
Diabetes/ Endocrine Surveillance in SDS
Lead Sponsor:
Washington University School of Medicine
Collaborating Sponsors:
Shwachman Diamond Syndrome Foundation
Barnes-Jewish Hospital
Conditions:
Shwachman-Diamond Syndrome
Eligibility:
All Genders
3+ years
Brief Summary
Shwachman-Diamond syndrome(SDS) is a rare autosomal recessive disorder involving primarily the Shwachman-Bodian-Diamond syndrome gene located on chromosome 7q11. The gene effects function of the 60S r...
Detailed Description
The purpose of the study is to learn about how common early onset diabetes and other endocrine issues occur in people who have been diagnosed with SDS. Study procedures include: For participants wit...
Eligibility Criteria
Inclusion
- Inclusion Criteria:
- Population 1: SDS and non-diabetic
- Age: 3 years of age and older to allow for baseline blood to be drawn. The Cystic Fibrosis group has seen glucose abnormalities well before age 10 but recommends screening after age 10. Investigators are attempting to define the population and will screen starting at age 3 to get a baseline data set.
- Willing to provide consent/ assent
- Stable health in the last month- i.e. not hospitalized/ ill in the last 6 weeks
- Patients should have been on stable medications for at least 4 weeks prior to testing - This includes neupogen and other white cell stimulators.
- Classic SBDS mutation with pancreatic insufficiency as determined by medical history.
- Able/willing to have a standard OGTT and modified OGTT
- Able/ willing to wear a Libre- Pro sensor and have sensor returned. If not willing to wear CGM- willing to do a standard OGTT as described.
- Not currently on diabetic therapy or labeled as diabetic.
- Willing to complete a health survey in regard to the SBDS and endocrine History
- Population 2: SDS and Labeled as diabetic
- Age greater than 3
- If labeled as diabetic - obtain data for age of onset and treatment utilized for the diabetes
- Willing to provide consent/ assent and complete health survey for SBDS and endocrine history
- Willing/able to wear 14 day blinded Libre-Pro to assess the response to current therapy and food diary.
- Willing to provide Fasting labs as outlined above for the group- no OGT, just the mixed meal tolerance test
- Population 1 and 2 Future Sub-study: Assess alpha cell and insulin dynamic response
- Participant in primary study who agree to the sub-study
- Willing to travel to St. Louis for clamp procedure.
- Budget will determine the actual number to be screened.
- Travel will be included.
- Population 3: Control groups
- Other control groups for the study will be age matched population norms, Cystic Fibrosis patients associated pancreatic insufficiency known or treated diabetes.
Exclusion
Key Trial Info
Start Date :
January 10 2020
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 30 2022
Estimated Enrollment :
11 Patients enrolled
Trial Details
Trial ID
NCT04275479
Start Date
January 10 2020
End Date
December 30 2022
Last Update
August 19 2024
Active Locations (1)
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1
Washington University
St Louis, Missouri, United States, 63110