Shwachman-Diamond SyndromeNCT04275479
Diabetes/ Endocrine Surveillance in SDS
An observational study of Shwachman-Diamond Syndrome, run by Washington University School of Medicine at 1 site in United States.
Trial 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 ribosome by interfering with the function of the Guanasine triphosphatase elongation factor 1 in the release of… Read more about this study
- Who is it for?
- Ages 3 years and olderHealthy volunteers can take part
- Conditions the study is for
- Shwachman-Diamond Syndrome
- What is being tested?
- Oral Glucose Tolerance Test, Modified Oral Glucose Tolerance Test and Modified Mixed Meal Tolerance Test
- Type of treatment
- Pill or oral medicine, Medical device
- How many people
- 11 participants
- Where
- 1 siteUnited States
- Study dates
- 10 Jan 2020to 30 Dec 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Community Sample, SDS Registry
Who may be able to join
- 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.
Show all 23Show fewer
- 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.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Endocrine Diabetes Screening in Patients With Shwachman-Diamond Syndrome DIABETES/ ENDOCRINE SURVEILLANCE IN SDS
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 percent of the individual affected by the syndrome have a biallelic mutation (258+2T>C and 183-184T > CT). The syndrome results in defects primarily in the pancreas and bone marrow resulting in pancreatic insufficiency, leukopenia with an increased risk of infection and an increased risk for acute myelocytic leukemia. Animal models that have knocked out the function of the SBDS gene in the pancreas reveals at the pancreas at birth as well as the insulin producing cells in the pancreas are normal but subsequently developed fatty infiltration and apoptosis without inflammation resulting in pancreatic exocrine insufficiency with initially normal endocrine pancreatic function. The endocrine pancreatic function declines over time such that by 12 months of age these mice show a phenotype of impaired glucose tolerance. The finding of early onset diabetes is not yet considered a manifestation of this genetic defect but likely is occurring. This study is designed to assist in understanding the prevalence of glucose abnormalities in this syndrome.
Exocrine pancreatic insufficiency leading to diabetes is a common hallmark of cystic fibrosis and cystic fibrosis related diabetes. Prevalence of glucose abnormalities in diabetes is a approaching 50% by the 2nd and 3rd decade of life in this disorder. The cystic fibrosis Foundation recommend screening for diabetes utilizing an oral glucose tolerance by the age of 10. Early diagnosis of diabetes in the syndrome as resulted in improved outcomes for patients with cystic fibrosis. It is my expectation that the prevalence of diabetes will be similar in SBDS patients. A small study performed I had the University of Cincinnati showed glucose abnormalities to occur in 5/20 individuals with the classic mutation.
Investigators propose to screen patients with the classic mutation for diabetes and endocrine disease utilizing continuous glucose monitoring over a 14 day period in addition to baseline fasting blood tests for insulin, GAD 65 antibody, Fructosamine, A1c and C peptide.
Read the 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 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 assessment; performance of a standard oral glucose tolerance test (OGTT) to be performed at a center close to the participants home, a modified oral glucose tolerance test and a modified mixed meal tolerance test to be performed by participant at home with phone access to study staff for directions, blood draws performed at a local lab or local physician office or other medical center in close proximity to the participants home. Completion of on-line, or in the case of no computer access - paper, questionnaires completed by the participant/parent to collect medical and health history, parents/siblings will be asked to complete a health history, 3 day food diary completed by participant/parent; phone calls; wearing of blinded continuous glucose monitoring device for 14 days; medical records release, 3-day diet diary; Additional optional biological specimens to look at cell free DNA and future biomarkers of endoplasmic reticulum stress in the beta cells of the pancreas will be obtained and stored for future study Parent(s) and/or siblings if willing and consented, will complete on-line medical history questionnaire and provide medical record release.
Data to be obtained from on-going study for subjects with Cystic Fibrosis
- Conditions
- Shwachman-Diamond Syndrome
- Being tested
- Oral Glucose Tolerance Test, Modified Oral Glucose Tolerance Test, Modified Mixed Meal Tolerance Test, Continuous Glucose Monitor, Food Diary
- Keywords
- Shwachman-Diamond Syndrome, Atypical Diabetes, Exocrine Pancreatic Insufficiency
- Medical subject headings
- Shwachman-Diamond Syndrome, Exocrine Pancreatic Insufficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Oral Glucose Tolerance TestDiagnostic test
Also called OGTT
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 TestOther
Also called Modified OGTT
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 TestOther
Also called MMTT
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.
Continuous Glucose MonitorDevice
Also called CGM
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 DiaryOther
The participant will be asked to maintain a detailed food diary for 3 days during the 10 day study period.
Medical History QuestionnairesOther
The participant will be asked to provide detailed medical history
| Study group | Role | What they receive |
|---|---|---|
| SDS - without Diabetes diagnosis | SDS - without Diabetes diagnosis Receives: Diagnostic Test: Oral Glucose Tolerance Test; Other: Modified Oral Glucose Tolerance Test; Other: Modified Mixed Meal Tolerance Test; Device: Continuous Glucose Monitor; Other: Food Diary; Other: Medical History Questionnaires | |
| SDS with Diabetes Diagnosis | SDS with Diabetes Diagnosis Receives: Other: Modified Mixed Meal Tolerance Test; Device: Continuous Glucose Monitor; Other: Food Diary; Other: Medical History Questionnaires | |
| Cystic Fibrosis (CF) patients data & lab results | De-identified data from age matched population norms, CF patients associated pancreatic insufficiency known or treated diabetes |
What is being measured
The primary outcome is the main question the study is designed to answer.
Systematically assess the prevalence of diabetes or glucose intolerance in participants with the classic biallelic mutation
Aim 1
Measured: 1 Year
Longitudinal screening of the enrolled population to assess the prevalence of diabetes or glucose intolerance
Aim 2
Measured: 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
Measured: 1 year
Assist families and patients in understanding their diet and fine tuning their approach to carbohydrates and fat in the diet
Aim 4
Measured: 1 year
Share data with the current SBDS Registry
Aim 5
Measured: Through study completion, and average of 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Feb 2020
- Study start10 Jan 2020
- Primary completion30 Dec 2022
- Study completion30 Dec 2022
Why it stopped: funding stopped
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (21)Papers the sponsor has linked to this study.
- Other trials for Shwachman-Diamond SyndromeStudies of the same condition, open and under way.
- More trials run by Washington University School of MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 11 participants (actual)
Sponsor and investigators
- Lead sponsor
- Washington University School of Medicine
- Sponsor type
- University, hospital or other
- Collaborators
- Shwachman Diamond Syndrome Foundation, Barnes-Jewish Hospital
- Responsible party
- Sponsor
- Investigators
- Garry Tobin, MD, Principal investigator, Washington University School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04275479
- Sponsor's protocol ID
- 201909102
- Status last verified
- Aug 2024
- First submitted
- 10 Feb 2020
- Last updated
- 19 Aug 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- Yes
- Individual data sharing
- No
Publications
Finch AJ, Hilcenko C, Basse N, Drynan LF, Goyenechea B, Menne TF, Gonzalez Fernandez A, Simpson P, D'Santos CS, Arends MJ, Donadieu J, Bellanne-Chantelot C, Costanzo M, Boone C, McKenzie AN, Freund SM, Warren AJ. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev. 2011 May 1;25(9):917-29. doi: 10.1101/gad.623011.
PubMed 21536732Menne TF, Goyenechea B, Sanchez-Puig N, Wong CC, Tonkin LM, Ancliff PJ, Brost RL, Costanzo M, Boone C, Warren AJ. The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat Genet. 2007 Apr;39(4):486-95. doi: 10.1038/ng1994. Epub 2007 Mar 11.
PubMed 17353896Tourlakis ME, Zhong J, Gandhi R, Zhang S, Chen L, Durie PR, Rommens JM. Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules. Gastroenterology. 2012 Aug;143(2):481-92. doi: 10.1053/j.gastro.2012.04.012. Epub 2012 Apr 14.
PubMed 22510201Moran A, Brunzell C, Cohen RC, Katz M, Marshall BC, Onady G, Robinson KA, Sabadosa KA, Stecenko A, Slovis B; CFRD Guidelines Committee. Clinical care guidelines for cystic fibrosis-related diabetes: a position statement of the American Diabetes Association and a clinical practice guideline of the Cystic Fibrosis Foundation, endorsed by the Pediatric Endocrine Society. Diabetes Care. 2010 Dec;33(12):2697-708. doi: 10.2337/dc10-1768. No abstract available.
PubMed 21115772Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, Kerr E, Zeidler C, Shimamura A, Shah N, Cipolli M, Kuijpers T, Durie P, Rommens J, Siderius L, Liu JM. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci. 2011 Dec;1242:40-55. doi: 10.1111/j.1749-6632.2011.06349.x.
PubMed 22191555Myers KC, Rose SR, Rutter MM, Mehta PA, Khoury JC, Cole T, Harris RE. Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome. J Pediatr. 2013 Jun;162(6):1235-40, 1240.e1. doi: 10.1016/j.jpeds.2012.11.062. Epub 2013 Jan 8.
PubMed 23305959Diabetes Care. Introduction. Diabetes Care. 2010 Jan;33 Suppl 1(Suppl 1):S1-2. doi: 10.2337/dc10-S001. No abstract available.
PubMed 20042770Jivani N, Torrado-Jule C, Vaiselbuh S, Romanos-Sirakis E. A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism. J Pediatr Endocrinol Metab. 2016 Nov 1;29(11):1325-1327. doi: 10.1515/jpem-2016-0299.
PubMed 27754968Gana S, Sainati L, Frau MR, Monciotti C, Poli F, Cannioto Z, Comelli M, Danesino C, Minelli A. Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association? Exp Clin Endocrinol Diabetes. 2011 Nov;119(10):610-2. doi: 10.1055/s-0031-1275699. Epub 2011 May 6.
PubMed 21553366Akdogan MF, Altay M, Denizli N, Gucun M, Tanrikulu S, Duranay M. A rare case: Shwachman-Diamond syndrome presenting with diabetic ketoacidosis. Endocrine. 2011 Aug;40(1):146-7. doi: 10.1007/s12020-011-9460-7. No abstract available.
PubMed 21448781Besser RE, Shields BM, Casas R, Hattersley AT, Ludvigsson J. Lessons from the mixed-meal tolerance test: use of 90-minute and fasting C-peptide in pediatric diabetes. Diabetes Care. 2013 Feb;36(2):195-201. doi: 10.2337/dc12-0836. Epub 2012 Oct 30.
PubMed 23111058Al Hayek AA, Robert AA, Al Dawish MA. Evaluation of FreeStyle Libre Flash Glucose Monitoring System on Glycemic Control, Health-Related Quality of Life, and Fear of Hypoglycemia in Patients with Type 1 Diabetes. Clin Med Insights Endocrinol Diabetes. 2017 Dec 10;10:1179551417746957. doi: 10.1177/1179551417746957. eCollection 2017.
PubMed 29270042Boudreau V, Lehoux Dubois C, Desjardins K, Mailhot M, Tremblay F, Rabasa-Lhoret R. Sensitivity and specificity of cystic fibrosis-related diabetes screening methods: which test should be the reference method? J Pediatr Endocrinol Metab. 2017 Aug 28;30(8):885-887. doi: 10.1515/jpem-2017-0122. No abstract available.
PubMed 28742521Brugha R, Wright M, Nolan S, Bridges N, Carr SB. Quantifying fluctuation in glucose levels to identify early changes in glucose homeostasis in cystic fibrosis. J Cyst Fibros. 2018 Nov;17(6):791-797. doi: 10.1016/j.jcf.2017.12.004. Epub 2018 Jan 10.
PubMed 29329721Clemente Leon M, Bilbao Gasso L, Moreno-Galdo A, Campos Martorrell A, Gartner Tizzano S, Yeste Fernandez D, Carrascosa Lezcano A. Oral glucose tolerance test and continuous glucose monitoring to assess diabetes development in cystic fibrosis patients. Endocrinol Diabetes Nutr (Engl Ed). 2018 Jan;65(1):45-51. doi: 10.1016/j.endinu.2017.08.008. Epub 2017 Nov 12. English, Spanish.
PubMed 29137964
Study at a glance
From the registry record, last updated by the sponsor on 19 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Endocrine Diabetes Screening in Patients With Shwachman-Diamond Syndrome DIABETES/ ENDOCRINE SURVEILLANCE IN SDS
- ClinicalTrials.gov ID
- NCT04275479
- Acronym / sponsor ID
- 201909102
- Conditions
- Shwachman-Diamond Syndrome
- Keywords
- Shwachman-Diamond Syndrome, Atypical Diabetes, Exocrine Pancreatic Insufficiency
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: funding stopped
- Enrolment
- 11 participants (actual)
- Lead sponsor
- Washington University School of MedicineUniversity, hospital or other
- Collaborators
- Shwachman Diamond Syndrome Foundation, Barnes-Jewish Hospital
- Study start
- 10 Jan 2020 (actual)
- Primary completion
- 30 Dec 2022 (actual)
- Study completion
- 30 Dec 2022 (actual)
- First posted
- 19 Feb 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 percent of the individual affected by the syndrome have a biallelic mutation (258+2T>C and 183-184T > CT). The syndrome results in defects primarily in the pancreas and bone marrow resulting in pancreatic insufficiency, leukopenia with an increased risk of infection and an increased risk for acute myelocytic leukemia. Animal models that have knocked out the function of the SBDS gene in the pancreas reveals at the pancreas at birth as well as the insulin producing cells in the pancreas are normal but subsequently developed fatty infiltration and apoptosis without inflammation resulting in pancreatic exocrine insufficiency with initially normal endocrine pancreatic function. The endocrine pancreatic function declines over time such that by 12 months of age these mice show a phenotype of impaired glucose tolerance. The finding of early onset diabetes is not yet considered a manifestation of this genetic defect but likely is occurring. This study is designed to assist in understanding the prevalence of glucose abnormalities in this syndrome.
Exocrine pancreatic insufficiency leading to diabetes is a common hallmark of cystic fibrosis and cystic fibrosis related diabetes. Prevalence of glucose abnormalities in diabetes is a approaching 50% by the 2nd and 3rd decade of life in this disorder. The cystic fibrosis Foundation recommend screening for diabetes utilizing an oral glucose tolerance by the age of 10. Early diagnosis of diabetes in the syndrome as resulted in improved outcomes for patients with cystic fibrosis. It is my expectation that the prevalence of diabetes will be similar in SBDS patients. A small study performed I had the University of Cincinnati showed glucose abnormalities to occur in 5/20 individuals with the classic mutation.
Investigators propose to screen patients with the classic mutation for diabetes and endocrine disease utilizing continuous glucose monitoring over a 14 day period in addition to baseline fasting blood tests for insulin, GAD 65 antibody, Fructosamine, A1c and C peptide.
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 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 assessment; performance of a standard oral glucose tolerance test (OGTT) to be performed at a center close to the participants home, a modified oral glucose tolerance test and a modified mixed meal tolerance test to be performed by participant at home with phone access to study staff for directions, blood draws performed at a local lab or local physician office or other medical center in close proximity to the participants home. Completion of on-line, or in the case of no computer access - paper, questionnaires completed by the participant/parent to collect medical and health history, parents/siblings will be asked to complete a health history, 3 day food diary completed by participant/parent; phone calls; wearing of blinded continuous glucose monitoring device for 14 days; medical records release, 3-day diet diary; Additional optional biological specimens to look at cell free DNA and future biomarkers of endoplasmic reticulum stress in the beta cells of the pancreas will be obtained and stored for future study Parent(s) and/or siblings if willing and consented, will complete on-line medical history questionnaire and provide medical record release.
Data to be obtained from on-going study for subjects with Cystic Fibrosis
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| SDS - without Diabetes diagnosis | – | Diagnostic Test: Oral Glucose Tolerance Test, Other: Modified Oral Glucose Tolerance Test, Other: Modified Mixed Meal Tolerance Test, Device: Continuous Glucose Monitor, Other: Food Diary, Other: Medical History QuestionnairesSDS - without Diabetes diagnosis |
| SDS with Diabetes Diagnosis | – | Other: Modified Mixed Meal Tolerance Test, Device: Continuous Glucose Monitor, Other: Food Diary, Other: Medical History QuestionnairesSDS with Diabetes Diagnosis |
| Cystic Fibrosis (CF) patients data & lab results | – | –De-identified data from age matched population norms, CF patients associated pancreatic insufficiency known or treated diabetes |
Who may qualify
- Ages
- 3 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Community Sample, SDS Registry
Key inclusion criteria (23 listed)
- 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.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Oral Glucose Tolerance TestAlso: OGTTThis 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. | Diagnostic test | SDS - without Diabetes diagnosis |
| Modified Oral Glucose Tolerance TestAlso: Modified OGTTThe 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. | Other | SDS - without Diabetes diagnosis |
| Modified Mixed Meal Tolerance TestAlso: MMTTThe 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. | Other | SDS - without Diabetes diagnosis, SDS with Diabetes Diagnosis |
| Continuous Glucose MonitorAlso: CGMThe 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). | Device | SDS - without Diabetes diagnosis, SDS with Diabetes Diagnosis |
| Food DiaryThe participant will be asked to maintain a detailed food diary for 3 days during the 10 day study period. | Other | SDS - without Diabetes diagnosis, SDS with Diabetes Diagnosis |
| Medical History QuestionnairesThe participant will be asked to provide detailed medical history | Other | SDS - without Diabetes diagnosis, SDS with Diabetes Diagnosis |
Primary outcome
Systematically assess the prevalence of diabetes or glucose intolerance in participants with the classic biallelic mutation
Time frame: 1 Year
Aim 1
Longitudinal screening of the enrolled population to assess the prevalence of diabetes or glucose intolerance
Time frame: Through study completion, an average of 3 years
Aim 2
Assess individuals who have previously been diagnosed with diabetes in regard to age of onset, complications and the treatments utilized.
Time frame: 1 year
Aim 3
Assist families and patients in understanding their diet and fine tuning their approach to carbohydrates and fat in the diet
Time frame: 1 year
Aim 4
Share data with the current SBDS Registry
Time frame: Through study completion, and average of 3 years
Aim 5
Results and safety
The study was stopped early (reason given: funding stopped). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Aug 2024.
- Background: PubMed 21536732Finch AJ, Hilcenko C, Basse N, Drynan LF, Goyenechea B, Menne TF, Gonzalez Fernandez A, Simpson P, D'Santos CS, Arends MJ, Donadieu J, Bellanne-Chantelot C, Costanzo M, Boone C, McKenzie AN, Freund SM, Warren AJ. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev. 2011 May 1;25(9):917-29. doi: 10.1101/gad.623011.
- Background: PubMed 17353896Menne TF, Goyenechea B, Sanchez-Puig N, Wong CC, Tonkin LM, Ancliff PJ, Brost RL, Costanzo M, Boone C, Warren AJ. The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat Genet. 2007 Apr;39(4):486-95. doi: 10.1038/ng1994. Epub 2007 Mar 11.
- Background: PubMed 22510201Tourlakis ME, Zhong J, Gandhi R, Zhang S, Chen L, Durie PR, Rommens JM. Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules. Gastroenterology. 2012 Aug;143(2):481-92. doi: 10.1053/j.gastro.2012.04.012. Epub 2012 Apr 14.
- Background: PubMed 21115772Moran A, Brunzell C, Cohen RC, Katz M, Marshall BC, Onady G, Robinson KA, Sabadosa KA, Stecenko A, Slovis B; CFRD Guidelines Committee. Clinical care guidelines for cystic fibrosis-related diabetes: a position statement of the American Diabetes Association and a clinical practice guideline of the Cystic Fibrosis Foundation, endorsed by the Pediatric Endocrine Society. Diabetes Care. 2010 Dec;33(12):2697-708. doi: 10.2337/dc10-1768. No abstract available.
- Background: PubMed 22191555Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, Kerr E, Zeidler C, Shimamura A, Shah N, Cipolli M, Kuijpers T, Durie P, Rommens J, Siderius L, Liu JM. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci. 2011 Dec;1242:40-55. doi: 10.1111/j.1749-6632.2011.06349.x.
- Background: PubMed 23305959Myers KC, Rose SR, Rutter MM, Mehta PA, Khoury JC, Cole T, Harris RE. Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome. J Pediatr. 2013 Jun;162(6):1235-40, 1240.e1. doi: 10.1016/j.jpeds.2012.11.062. Epub 2013 Jan 8.
- Background: PubMed 20042770Diabetes Care. Introduction. Diabetes Care. 2010 Jan;33 Suppl 1(Suppl 1):S1-2. doi: 10.2337/dc10-S001. No abstract available.
- Background: PubMed 27754968Jivani N, Torrado-Jule C, Vaiselbuh S, Romanos-Sirakis E. A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism. J Pediatr Endocrinol Metab. 2016 Nov 1;29(11):1325-1327. doi: 10.1515/jpem-2016-0299.
- Background: PubMed 21553366Gana S, Sainati L, Frau MR, Monciotti C, Poli F, Cannioto Z, Comelli M, Danesino C, Minelli A. Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association? Exp Clin Endocrinol Diabetes. 2011 Nov;119(10):610-2. doi: 10.1055/s-0031-1275699. Epub 2011 May 6.
- Background: PubMed 21448781Akdogan MF, Altay M, Denizli N, Gucun M, Tanrikulu S, Duranay M. A rare case: Shwachman-Diamond syndrome presenting with diabetic ketoacidosis. Endocrine. 2011 Aug;40(1):146-7. doi: 10.1007/s12020-011-9460-7. No abstract available.
- Background: PubMed 23111058Besser RE, Shields BM, Casas R, Hattersley AT, Ludvigsson J. Lessons from the mixed-meal tolerance test: use of 90-minute and fasting C-peptide in pediatric diabetes. Diabetes Care. 2013 Feb;36(2):195-201. doi: 10.2337/dc12-0836. Epub 2012 Oct 30.
- Background: PubMed 29270042Al Hayek AA, Robert AA, Al Dawish MA. Evaluation of FreeStyle Libre Flash Glucose Monitoring System on Glycemic Control, Health-Related Quality of Life, and Fear of Hypoglycemia in Patients with Type 1 Diabetes. Clin Med Insights Endocrinol Diabetes. 2017 Dec 10;10:1179551417746957. doi: 10.1177/1179551417746957. eCollection 2017.
- Shwachman-Diamond Syndrome FoundationLink provided by the sponsor.
- Washington University Research Participant RegistryLink provided by the sponsor.
- Washington University- Understanding Clinical TrialsLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Garry Tobin, MD principal investigator
Washington University School of Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Shwachman-Diamond Syndrome, run by Washington University School of Medicine at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 23 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 19 Aug 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: funding stopped). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Systematically assess the prevalence of diabetes or glucose intolerance in participants with the classic biallelic mutation (time frame: 1 Year). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04275479, which also lists 21 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Aug 2024.