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Diabetes/ Endocrine Surveillance in SDS 11 Traduction dispo.

Interrompu
Les détails de l'essai clinique sont principalement disponibles en anglais. Cependant, l'IA Trial Radar peut vous aider ! Cliquez simplement sur 'Expliquer l'étude' pour voir et discuter des informations sur l'étude dans la langue sélectionnée.
L'essai clinique NCT04275479 est une étude observationnel pour Syndrome de Shwachman-Diamond. Son statut actuel est : interrompu. L'étude a débuté le 10 janvier 2020 et vise à recruter 11 participants. Dirigée par l'Université Washington de Saint-Louis, l'étude devrait être terminée d'ici le 30 décembre 2022. Les données du site ClinicalTrials.gov ont été mises à jour pour la dernière fois le 19 août 2024.
Résumé succinct
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...Afficher plus
Description détaillée
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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Titre officiel

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

Pathologies
Syndrome de Shwachman-Diamond
Publications
Articles scientifiques et travaux de recherche publiés sur cet essai clinique:
Autres identifiants de l'étude
  • 201909102
Numéro NCT
NCT04275479
Date de début (réel)
2020-01-10
Dernière mise à jour publiée
2024-08-19
Date de fin (estimée)
2022-12-30
Inscription (estimée)
11
Type d'étude
Observationnel
Statut
Interrompu
Mots clés
Shwachman-Diamond Syndrome
Atypical Diabetes
Exocrine Pancreatic Insufficiency
Bras / Interventions
Groupe de participants/BrasIntervention/Traitement
SDS - without Diabetes diagnosis
SDS - without Diabetes diagnosis
Test de tolérance au glucose oral
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.
Moniteur de glucose en continu
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.
Moniteur de glucose en continu
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
N/A
Critère principal d'évaluation
Critères d'évaluationDescription de la mesurePériode
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
Critères d'éligibilité

Âges éligibles
Enfant, Adulte, Adulte âgé
Âge minimum
3 Years
Sexes éligibles
Tous
Accepte les volontaires en bonne santé
Oui

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 logoUniversité Washington de Saint-Louis462 essais cliniques actifs à explorer
  • Shwachman Diamond Syndrome Foundation logoShwachman Diamond Syndrome Foundation
  • Barnes-Jewish Hospital logoBarnes-Jewish Hospital
Aucune donnée de contact disponible
1 Centres de l'étude dans 1 pays

Missouri

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