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Diabetes/ Endocrine Surveillance in SDS 11 번역 제공

조기 종료
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임상시험 NCT04275479은(는) 슈바흐만-다이아몬드 증후군에 대해 알아보는 관찰연구입니다. 현재 상태는 조기 종료이며, 연구는 2020년 1월 10일에 시작되어 11명의 참여자를 모집하고 있습니다. 워싱턴 대학교 세인트루이스이(가) 진행하며, 2022년 12월 30일까지 완료될 예정입니다. ClinicalTrials.gov의 가장 최근 정보는 2024년 8월 19일에 갱신되었습니다.
간단한 개요
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 ribosome by interfering with the function of the Guanasine triphosphatase elongation factor 1 in the release of eukaryotic initiation factor 6 from the 60 S ribosomal subunit for translation initiation. Seventy five perce...더 보기
상세한 설명
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 with SDS:

obtaining informed consent/assent; obtaining medical & medication history, including history of diabetes, review of medical records and lab results for confirmation of diagnosis and inclusion/exclusion assessmen...

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공식 제목

Endocrine Diabetes Screening in Patients With Shwachman-Diamond Syndrome DIABETES/ ENDOCRINE SURVEILLANCE IN SDS

질환명
슈바흐만-다이아몬드 증후군
출판물
이 임상시험에 대해 발표된 과학 논문 및 연구 자료.
기타 연구 식별자
  • 201909102
NCT 번호
NCT04275479
실제 연구 시작일
2020-01-10
최신 업데이트 게시
2024-08-19
예상 연구 완료일
2022-12-30
계획된 등록 인원
11
연구종류
관찰연구
상태
조기 종료
키워드
Shwachman-Diamond Syndrome
Atypical Diabetes
Exocrine Pancreatic Insufficiency
시험군 / 개입
참가자 그룹/시험군개입/치료
SDS - without Diabetes diagnosis
SDS - without Diabetes diagnosis
경구 당부하 검사
This is a two step process. Subjects will be asked to fast overnight,(no food and only water to drink for at least 8 hours). Then when subjects arrive for the visit,participants will have blood drawn and be asked to drink a sugary liquid. One hour later, another blood sample will be drawn and after two hours a final blood sample will be drawn.
Modified Oral Glucose Tolerance Test
The participant will be asked to fast overnight (no food and only water to drink for at least 8 hours). There will be no blood drawn during this test, participant will be asked to drink a sugary liquid and to remaining fasting (water only) for the two hour after finishing the drink.
Modified Mixed Meal Tolerance Test
The participant will be asked to fast overnight (no food and only water to drink for at least 8 hours). The participant will be given a meal supplement to drink in place of breakfast, for example Boost Plus. The participant will be asked to drink the meal supplement and to remaining fasting (water only) for the next two hours.
연속 혈당 모니터
The participant will be provided a CGM device to wear for 10 days during the study period. The CGM will be blinded (meaning that the participant will not be able to see the results).
Food Diary
The participant will be asked to maintain a detailed food diary for 3 days during the 10 day study period.
Medical History Questionnaires
The participant will be asked to provide detailed medical history
SDS with Diabetes Diagnosis
SDS with Diabetes Diagnosis
Modified Mixed Meal Tolerance Test
The participant will be asked to fast overnight (no food and only water to drink for at least 8 hours). The participant will be given a meal supplement to drink in place of breakfast, for example Boost Plus. The participant will be asked to drink the meal supplement and to remaining fasting (water only) for the next two hours.
연속 혈당 모니터
The participant will be provided a CGM device to wear for 10 days during the study period. The CGM will be blinded (meaning that the participant will not be able to see the results).
Food Diary
The participant will be asked to maintain a detailed food diary for 3 days during the 10 day study period.
Medical History Questionnaires
The participant will be asked to provide detailed medical history
Cystic Fibrosis (CF) patients data & lab results
De-identified data from age matched population norms, CF patients associated pancreatic insufficiency known or treated diabetes
해당 없음
주요결과변수
결과변수측정값 설명시간 범위
Systematically assess the prevalence of diabetes or glucose intolerance in participants with the classic biallelic mutation
Aim 1
1 Year
Longitudinal screening of the enrolled population to assess the prevalence of diabetes or glucose intolerance
Aim 2
Through study completion, an average of 3 years
Assess individuals who have previously been diagnosed with diabetes in regard to age of onset, complications and the treatments utilized.
Aim 3
1 year
Assist families and patients in understanding their diet and fine tuning their approach to carbohydrates and fat in the diet
Aim 4
1 year
Share data with the current SBDS Registry
Aim 5
Through study completion, and average of 3 years
적격성 기준

연령대
어린이, 성인, 노인
최소 연령
3 Years
참여 가능한 성별
전체
건강한 참가자 허용
네

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.
Washington University School of Medicine logo워싱턴 대학교 세인트루이스462개의 진행 중인 임상시험 탐색 가능
  • Shwachman Diamond Syndrome Foundation logoShwachman Diamond Syndrome Foundation
  • Barnes-Jewish Hospital logoBarnes-Jewish Hospital
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Missouri

Washington University, St Louis, Missouri, 63110, United States