Active Research
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(RTTI_Tiratricol-EAP-MCT8- 2022-4) Expanded Access Program for Tiratricol in Patients with Monocarboxylate Transporter 8 Deficiency also known as Allan-Herndon-Dudley syndrome (AHDS)
Primary Investigator: Thornton MD, Paul Stephen
IRB ID: 2023-070 (OPEN)
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111-902, A Multicenter Multinational Observational Study of Children with Hypochondroplasia
Primary Investigator: Steelman MD, Joel
IRB ID: 2024-023 (OPEN)
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A Process Improvement Tool to Enhance and Monitor the Treatment of Children and Adolescents with Diabetic Ketoacidosis (DKA)
Primary Investigator: Wilson MD, Don
IRB ID: 2013-045 (OPEN)
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ACP-101-303 (OLE): A Long-term, Open-label Extension Study of Carbetocin Nasal Spray for the Treatment of Hyperphagia in Prader-Willi Syndrome
Primary Investigator: Roy, Sani
IRB ID: 2023-068 (OPEN)
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An Open-label, Randomized, Active-Controlled, Phase 3 Study of Setrusumab Compared With Bisphosphonates in Pediatric Subjects 2 to < 5 Years of Age With Osteogenesis Imperfecta Types I, III or IV.
Primary Investigator: Steelman MD, Joel
IRB ID: 2023-024 (OPEN)
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BioMarin 111-210: A Phase 2 Study of Vosoritide in Children With Idiopathic Short Stature
Primary Investigator: Steelman MD, Joel
IRB ID: 2024-116 (OPEN)
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BioMarin_111-903:A Multicenter, Observational Study to Characterize Growth in Children with Idiopathic Short Stature.
Primary Investigator: Steelman MD, Joel
IRB ID: 2024-115 (TEMPORARILY CLOSED TO ACCRUAL)
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Congenital Adrenal Hyperplasia Registry for Research and Quality Data Collection
Primary Investigator: Thornton MD, Paul Stephen
IRB ID: CCHCS_CAH Registry_Thornton (OPEN)
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Cortisol Production in Children and Adolescents with Prader-Willi Syndrome
Primary Investigator: Roy, Sani
IRB ID: 2024-002 (OPEN)
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Does treatment with Diazoxide elevate the plasma glucose levels in persons with GLUT1 Deficiency Syndrome? An open label, multiple ascending dose study
Primary Investigator: Thornton MD, Paul Stephen
IRB ID: CCMC_Glut1DS Diazoxide_Thornton (OPEN)
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Hyperinsulinism Center Registry for Research and Quality Data Collection
Primary Investigator: Thornton MD, Paul Stephen
IRB ID: 2011-183 (OPEN)
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Identification of and Genomic Editing of Novel Gene Mutations in Congenital Hyperinsulinism
Primary Investigator: Thornton MD, Paul Stephen
IRB ID: 2023-059 (OPEN)
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Prader-Willi Syndrome Registry
Primary Investigator: Roy, Sani
IRB ID: CCHCS_PWS-Registry_Roy (OPEN)
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Prader-Willi Syndrome-Clinical Investigation Collaborative (PWS-CLIC) STUDYTRAX Clinical Database
Primary Investigator: Roy, Sani
IRB ID: FPWR_PWS StudyTrax_Roy (OPEN)
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Safety, Accuracy, and Feasibility of Continuous Glucose Monitoring In the Neonatal Intensive Care Unit
Primary Investigator: Thornton MD, Paul Stephen
IRB ID: CCHCS_CGM_Thornton (OPEN)
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Survey of the National Lipid Association s Membership - Opinions of the 2011 National Heart, Lung and Blood Institute s Expert Panel Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents.
Primary Investigator: Wilson MD, Don
IRB ID: 2013-028 (OPEN)
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The Use of Fluorine F 18 6-fluorodopamine Positron Emission Tomography Combined with Computed Tomography in Congenital Hyperinsulinism and Insulinoma
Primary Investigator: Thornton MD, Paul Stephen
IRB ID: 2012-060 (OPEN)
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Unknown
Primary Investigator: Roy, Sani
IRB ID: 2025-040 _Aardvark_AVK-101-301_Roy (OPEN)
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UX143-CL301: An Operationally Seamless, Randomized Phase 2/3 Study Consisting of a Phase 2 Single-Blind, Dose-Evaluation Phase and a Phase 3 Double-Blind, Placebo-controlled Phase to Assess the Efficacy and Safety of Setrusumab in Subjects with Osteogenesis Imperfecta
Primary Investigator: Steelman MD, Joel
IRB ID: 2023-061 (OPEN)