Clinical Research Directory

Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU

XPhePiccosMR is a prospective, single-arm, open label, observational study that aims to evaluate the acceptability and tolerability of XPhe Piccos, a slow-release, phenylalanine-free protein substitute in the form of tiny tablets, for use in the dietary management of phenylketonuria (PKU) in children aged three years and older.

A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type II

This is phase 2/3 study to evaluate the safety, pharmacokinetics, pharmacodynamics, and efficacy of the investigational product GNR-055 in MPS II (Hunter syndrome) patients of different age groups.

METabolic MODulation to Enhance Insulin Sensitivity and Mitochondrial Function in Type 1 Diabetes (MetMod-T1D)

The study is a randomized, double-blind, parallel-group clinical trial to examine the effects of 24 weeks of oral AMX0035 (sodium phenylbutyrate + taurursodiol) versus placebo in 60 adults with Type 1 Diabetes (T1D) (n=30 per arm). Enrollment will be distributed equally between the University of Washington and Amsterdam University Medical Center/Diabetes Center Amsterdam. Participants will be recruited through diabetes research registries, local T1D clinics, and community outreach.

Early Pregnancy Lifestyle and Glucose Patterns: A Substudy of TOFFFY

The goal of this clinical trial is to examine how daily behavioral patterns in early pregnancy, including sleep, physical activity, and meal timing, influence continuous glucose dynamics and subsequent risk of gestational diabetes mellitus (GDM) in pregnant women without pre-existing diabetes. The main questions it aims to answer are: 1. Do early-pregnancy chronobehavioral patterns (e.g., irregular sleep, night eating, and unstable rest-activity rhythms) relate to continuous glucose patterns measured using continuous glucose monitoring (CGM)? 2. Can early behavioral and CGM-derived measures predict glucose regulation and metabolic outcomes later in pregnancy (24-28 weeks)? 3. Does real-time self-monitoring using wearable devices and food logging improve glycemic outcomes compared to usual care? This study is a prospective, nested randomized pilot trial embedded within the ongoing Towards Optimal Fertility, Fathering and Fatherhood studY (TOFFFY) cohort (NCT06293235) at KK Women's and Children's Hospital, Singapore. A total of 140 pregnant women without pre-existing diabetes, recruited at ≤13 weeks gestation, will be randomized in a 1:1 ratio to either a pilot arm (wearable-based self-monitoring) or a control arm (usual care). Participants in the pilot arm (n=70) will undergo intensive behavioral and metabolic monitoring over a 14-day period in early pregnancy, including continuous glucose monitoring using a CGM device, wrist actigraphy to assess sleep-wake and rest-activity patterns, and an AI-supported mobile application to record meal timing and dietary intake. Participants will have real-time access to their glucose data and behavioral feedback, enabling self-monitoring and potential behavioral adjustments.

Assessment of Endocrine and Metabolic Late Effects After Childhood Brain Tumor Treatment

This prospective, single-group interventional study evaluates endocrine and metabolic late effects in survivors of primary brain tumors treated during childhood. According to the study protocol, participants were prospectively assigned to undergo the Study-Specific Endocrine and Metabolic Late-Effects Assessment. The assessment included anthropometric measurements, repeated blood pressure measurements, clinical endocrine evaluation, fasting laboratory testing, and protocol-defined bone and vascular assessments. The purpose of the study was to identify the frequency and severity of endocrine and metabolic late effects and to evaluate their associations with tumor characteristics, previous cancer treatment, age at diagnosis, and physical functioning.

Myokines as Potential Biomarkers and Drivers of Sarcopenia in Metabolic and Endocrine Diseases

Prospective, observational, single-center, study evaluating the prevalence of sarcopenia / sarcopenic obesity in individuals with metabolic and / or endocrine diseases, as well as the potential role of myokines as biomarkers or drivers of sarcopenia / sarcopenic obesity in this population. .

GLUCOSE-MGH: Genetic Links Understood Through Challenge With Oral Semaglutide Exposure at MGH

The goal of this research study is to evaluate the pathophysiologic mechanisms by which genetic variation impacts response to an FDA-approved medication commonly used to treat type 2 diabetes called oral semaglutide (Rybelsus) and to characterize the physiological response to a mixed meal tolerance test (MMTT) before and after a 14-day treatment with oral semaglutide. The investigators will do this by measuring factors in the blood, such as sugars, fats, metabolites, and proteins, after eating a standardized breakfast meal at the first visit and after taking 14 doses of oral semaglutide over two weeks before the second study visit. The food (mixed meal breakfast) we will be studying is specially prepared to contain a set amount of protein, carbohydrates, and fat. The investigators hypothesize that understanding how the acute biochemical response to oral semaglutide differs by genetic variation will generate insight into drug mechanisms and type 2 diabetes pathophysiology.

Genetic and Metabolic Disease in Children

This is a prospective, non-randomized, non-blinded observational study. The overarching goal is to discover new disease-associated genes in children, while establishing a specific focus on disorders where molecular characterization is most likely to lead to novel therapies. This study will merge detailed phenotypic characterization of patients presenting to the Pediatric Genetics and Metabolism Division in the Department of Pediatrics/Children's Medical Center at Dallas and collaborating clinics with Next-Generation sequencing techniques to identify disease-producing mutations. The primary objective of the study is to identify novel pathogenic mutations in children with rare Mendelian disorders. A secondary objective of the study is to establish normative ranges of a large number of metabolites from healthy newborns and older children.

Evaluation of Therapeutic Adherence Among Patients Followed in the Department of Hereditary Metabolic Diseases at Necker Hospital

The purpose of this study is to evaluate treatment adherence among patients followed in the Department of Inherited Metabolic Diseases at Necker Hospital, in order to assess the need for implementing a therapeutic education workshop focused on medication adherence.

Validate Smart Breath Analyzer as Screening Tool for Diabetic, Hepatic, Renal, Lung, and Other Metabolic Disorders

This is a prospective, multicentric, non-treatment study to build and validate a portable, non-invasive smart breath analyzer that can screen underlying health issues using exhaled breath. The study will be conducted with healthy participants and participants with known cases of diabetes, kidney related issues, liver related issues, and lung related issues as confirmed by pathology reports. In phase 1, 500 apparently healthy individuals with normal levels of fasting and postprandial blood sugar, renal function test, liver function test, and lung function test will be recruited. In phase 2, 500 patients of type 2 diabetes, liver function, renal function, and lung function derangements each diagnosed by 10% increment above normal values will be enrolled. In phase 3, validation of the breath analyzer as a screening tool for early identification of type 2 diabetes, liver, renal, lung and other metabolic function derangements will be done by randomly assigning healthy and diseased participants for exhaled breath sample analysis. The study is based on the principle of exhaled breath analysis where parts per million and parts per billion level of volatile organic compounds and gases in human breath will be measured. AI based algorithms will be generated to effectively screen unhealthy biomarker levels, enabling timely preventive action.

Intestinal Metabolic Reprogramming as a Key Mechanism of Gastric Bypass in Humans

The purpose of this research study is to determine how gastric bypass surgery effects metabolism in obesity and Type 2 Diabetes. One mechanism that has been investigated in animal models is change to the biology of the small intestine (Roux limb) and how glucose and other fuels are metabolized (or how the body digests and uses sugar and other fuels). This study will evaluate the role of the intestine in the beneficial metabolic effects of gastric bypass surgery. It specifically will examine whether the intestine increases its metabolism and its activity, and whether this results in an increase in fuel utilization. Thirty two (32) subjects will be recruited (18 with and 14 without Type 2 Diabetes). At the time of gastric bypass surgery, a small piece of intestine that is usually discarded will be collected. At three time points over the first year after surgery, intestinal samples will be obtained by endoscopy or insertion of a lighted flexible tube through the mouth. Blood samples will be taken at all time points, as well. All samples will undergo comprehensive metabolic analyses. Comparisons will be made between the two groups to understand the metabolic changes over time and if there are differences between the two groups.

The Effect of Processing on Food Reward

The minimally processed diets of our ancestors have been rapidly replaced by UPFs driving poor diet to become the leading risk factor for preventable death globally. Hence, it is essential to understand what properties of UPF are driving their overconsumption to reduce diet-related mortality. To address this gap in knowledge this proposal will test: * If UPFs have a greater post meal metabolic response when compared to MPFs an essential signal for food reward * Through the use of an auction task paradigm if UPFs overvalued and if this value is differentially encoded in the brain This study is a fully cross-over design in that each participant receives all conditions and therefore serves as their own control. All orders of foods will be counterbalanced. Although participants cannot be blinded to the conditions as they must be aware of the foods they are eating, they will not be made aware that the key manipulation is food processing. On different days participants will come to the lab and consume a meal containing either minimally or ultra-processed foods as determined by the widely used NOVA (not an acronym) scale. These conditions will be consumed in a whole room metabolic chamber allowing for simultaneous measurement of multiple metabolic responses (glucose, insulin, and metabolic rate). These measures will be collected for 45 min before consumption of the meal (baseline) and for 3 hours after consumption (post-prandial). All participants will also undergo a Becker-Degroot-Marschak auction paradigm that consists of foods that are either minimally or Ultra-processed in the MRI scanner. Food value will be measure in participants' willingness to pay for each food and Neural responses will be measured during presentation of the food cues.

Specificities of Atypical Non AutoImmune Diabetes (ANAID) in the French West Indies

Genetics variants could be involved in atypical non-autoimmune diabetes revealed by ketoacidosis. The objective of this research will be to determine the relationships between the genetic variants already described in known monogenic diabetes or identified as involved in glucose metabolism and its regulation, in insulin signaling pathways or in insulin secretion itself in subjects of African and Indian ancestry with atypical forms of non autoimmune diabetes.

Study on Construction of Whole Lifecycle Cohort, Big Data Management and Clinical Prognosis of Cardio-Renal-Metabolic (CKM) Syndrome

This is a single-center observational registry study aiming to establish a structured clinical and multimodal imaging database for cardiovascular-kidney-metabolic (CKM) populations and to support lifecycle follow-up and outcome management. Adult patients aged 18-80 years with cardiovascular, kidney, and/or metabolic diseases or key data for CKM phenotyping will be enrolled at the First Affiliated Hospital of Fujian Medical University. The study integrates retrospective data entry and prospective follow-up, including clinical records, laboratory tests, medications, electrocardiography, echocardiography, vascular function assessment, carotid and abdominal ultrasound, bone density, coronary CTA and post-processing data. The primary outcome is the first occurrence of a cardiorenal composite endpoint. Participants will be followed for up to 5 years through active annual follow-up and passive monthly data updates to support risk stratification, real-world evidence generation, and CKM management pathway optimization.

A Phase 3 Study of NTLA-2001 in ATTRv-PN

This study will be conducted to evaluate the efficacy and safety of a single dose of nexiguran ziclumeran (NTLA-2001) compared to placebo in participants with ATTRv-PN.

Magnetic Resonance Imaging in Metabolic Diseases

This study aims to leverage structural, functional, and metabolic magnetic resonance imaging (MRI) of the brain to identify imaging features that correlate with clinical parameters. It is hypothesized that individuals with metabolic diseases exhibit distinct functional and structural brain differences compared to healthy controls. These differences may evolve over time due to changes in whole-body metabolism or body weight, influenced by factors such as the natural progression of the disease or therapeutic interventions. Additionally, potential brain changes may correlate with body composition metrics, such as the fat content of specific body compartments. This is a prospective, single-center study conducted at Ulm University Hospital, designed to track the clinical and imaging histories of patients with metabolic diseases and compare them to healthy individuals. Eligible participants include adults (aged 18 and older) capable of providing informed consent. Recruitment will occur through routine clinical care or existing research studies. To provide a comprehensive understanding, the study will include both cross-sectional analyses and longitudinal follow-up of participants, integrating repeated assessments during routine medical visits.

Growing Up in Singapore Towards Healthy Outcomes

This study aims to examine the role of genetic and epigenetic factors, maternal nutrition, lifestyle, emotional health, and other environmental factors in pregnancy or postpartum period that can influence future maternal risk of metabolic and mental wellness, including body weight changes. The study will recruit women in early pregnancy and later follow their children after birth, tracking both the mother and child until the child reaches at least 20 years of age.

Effects of Daily Beef Intake, as a Component of a Heart-Healthy Diet on Cellular Zinc

The objective of the current study is to test the overarching hypothesis that the beef nutritive matrix is uniquely suited to direct dietary zinc to cellular compartments for improved metabolic function, leading to a greater effect on health outcomes. Specifically, whether beef, as a component of a healthy meal, will promote the absorption of zinc into cells, where the zinc will have greater effects on zinc-dependent metabolic processes supporting cardiovascular health. To maximize the observability of these beef-related effects, individuals who are 55- to 70-year-old who generally have a higher risk of zinc deficiency and cardiovascular disease will be enrolled.

Landscape of Gout in French Polynesia.

The aim of this research is to characterise the genetic and molecular landscape of gout, inflammation and metabolic diseases, as well as the associated molecular, anthropomorphic and pathological characteristics.

Comparing Dumping Symptoms and Quality of Life 6 Months After Sleeve Gastrectomy With or Without Transit Bipartition in Adults With Obesity

This clinical study aims to compare two types of bariatric (weight loss) surgery used to treat obesity: sleeve gastrectomy alone and sleeve gastrectomy with transit bipartition. Both procedures help patients lose excess weight and improve obesity-related conditions such as diabetes and high blood pressure. However, they may differ in how they affect digestion and patients' quality of life after surgery. One possible complication after bariatric surgery is dumping syndrome. This occurs when food passes too quickly from the stomach into the small intestine, causing symptoms such as nausea, bloating, abdominal pain, diarrhea, dizziness, or fatigue after eating. These symptoms can be uncomfortable and may interfere with daily activities, eating habits, and overall well-being. The main goal of this study is to evaluate and compare both the occurrence of dumping syndrome and the overall quality of life six months after surgery in two groups of patients: Those who undergo sleeve gastrectomy alone. Those who undergo sleeve gastrectomy combined with transit bipartition. Participants will be adults with obesity who are scheduled to undergo bariatric surgery. Each participant will be evaluated before and after surgery using medical assessments and validated questionnaires that measure symptoms, eating patterns, and different aspects of quality of life-including physical health, emotional well-being, and social functioning. Follow-up visits and questionnaires will be conducted six months after surgery to determine how each surgical technique affects patients' digestion, comfort after meals, and overall satisfaction with their health and lifestyle. The study's hypothesis is that adding transit bipartition to sleeve gastrectomy may decrease the frequency or severity of dumping syndrome and lead to better quality of life outcomes compared to sleeve gastrectomy alone. By comparing these two surgical approaches, this study hopes to help surgeons and patients make better-informed decisions about bariatric surgery, aiming for the best combination of effective weight loss, minimal side effects, and improved long-term quality of life.

Effects of HIIT vs. TRE on Type 2 Diabetes Risk

The primary aim of this randomized controlled trial is to examine the effects of a 4-week high-intensity interval training (HIIT) and time-restricted eating (TRE) intervention on cardiometabolic biomarkers in adolescents and young adults.

Sarcopenia, Metabolic Diseases, and Integrated Aging Longitudinal Evaluation (SMILE)

This study aims to establish an ambispective cohort platform centered on the pathological axis of "sarcopenia-metabolic disorders-aging progression", integrating multimodal data including demographic characteristics, lifestyle factors, clinical phenotypes, laboratory tests, medical imaging, and biospecimens. Namely 'Sarcopenia, Metabolic Diseases, and Integrated Aging Longitudinal Evaluation (SMILE)'.

Adipose Tissue and Polycystic Ovary Syndrome (PCOS)(EIFFEL)

The purpose of this study is to collect data to help understand why some women develop Polycystic Ovary Syndrome (PCOS) associated with decreased lower-body fat.

Nicotinamide Riboside Supplementation and Exercise Training to Promote Healthy Longevity

The prevalence of age-related chronic diseases (like obesity, type 2 diabetes and cardiovascular diseases) is mounting worldwide, reaching pandemic proportions. These age-related chronic diseases are associated with diminished skeletal muscle mitochondrial function in humans. Nicotinamide adenosine dinucleotide (NAD) is a coenzyme that regulates mitochondrial function, therefore, plays an important role in energy metabolism. Importantly, it has been shown that high cellular NAD+ levels as well as a high NAD+/NADH ratio promote metabolic and mitochondrial health. In contrast, NAD+ bioavailability declines upon aging in humans as well as in animal models of metabolic disorders and type 2 diabetes. These findings fuel the notion of boosting the NAD+ bioavailability in order to improve metabolic disturbances and mitochondrial dysfunction in aged individuals. Supplementation with nicotinamide riboside (NR), a naturally occurring form of vitamin B3, boosts cellular NAD+ levels. However, in contrast to animal studies, NR supplementation in humans has so far been unsuccessful in improving skeletal muscle mitochondrial function, exercise capacity or insulin sensitivity. Interestingly, Recently, it has been suggested that metabolic conditions where NAD+ levels become limited, is needed for NR supplementation to exert beneficial health effects. This metabolic condition could be achieved by exercise. However, studies combining NR and exercise are lacking, and that is why we will perform the present study.