Clinical trials: Genetic Disorders
Diabetes Mellitus, Severe Insulin Resistance
Genetic Studies of Insulin and Diabetes
The study will allow researchers to obtain blood, plasma, DNA, and RNA for genetic studies of insulin. There will be a focus on the causes of insulin resistance and diabetes mellitus.
- Trial name
- NCT00001987
- Testing
- HR-pQCT scan
- Where
- United States
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Hypoparathyroidism, Pseudo Hypoparathyroidism
QoL and Cognitive Function in Patients With Hypoparathyroidism
Hypoparathyroidism (HypoPT) is a disease with inadequate production of parathyroid hormone (PTH) from the parathyroid glands leading to hypocalcemia.
- Trial name
- MR-hypoPT (NCT04569604)
- Testing
- MRI scans, Neuro cognitive tests, Questionnaires on Quality of Life
- Where
- Denmark
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Pancreatic Exocrine Insufficiency
The Development of a Metabolomic Test to Diagnose and Quantify Pancreatic Exocrine Insufficiency (The DETECTION Study)
DETECTION. The development of a metabolomic test to diagnose and quantify pancreatic exocrine insufficiency.
- Trial name
- DETECTION (NCT05980221)
- Testing
- Metabolomics, 13C MTGT
- Where
- United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University Hospital Birmingham NHS Foundation Trust
Mental Disorders, Psychological Disorders
Longitudinal Family/Molecular Genetic Study to Validate Research Domain Criteria
The purpose of this research is to study new ways of classifying mental disorders in children based on observable behavior and genetics to ultimately diagnose these disorders better.
- Conditions
- Mental Disorders, Psychological Disorders, Psychiatric, Diagnosis, Mental Disorders Diagnosed in Childhood
- Trial name
- NCT02415647
- Where
- United States
- Volunteers
- 2,806 people, healthy volunteers welcome
- Sponsor
- State University of New York - Upstate Medical University
Sickle Cell Disease, Thalassemia
Multi-Center Study of Iron Overload: Pilot Study
The purpose of this study is to initiate pilot studies to demonstrate that a sufficient number of iron-overloaded thalassemia, SCD and DBA populations with similar duration of chronic transfusion, and age at start of transfusions…
- Conditions
- Sickle Cell Disease, Thalassemia, Diamond-Blackfan Anemia
- Trial name
- MCSIO (NCT01114776)
- Where
- 3 sites in United States, Germany and 1 more
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- UCSF Benioff Children's Hospital Oakland
Pregnancy Related
Cell- Based Noninvasive Prenatal Testing (NIPT): Single Cell Prenatal Diagnosis (SCPD)
The purpose of the overall study is to develop improved methods for recovery of fetal cells from the mother's blood in order to develop a clinically useful form of cell-based, diagnostic, noninvasive prenatal testing (NIPT).
- Trial name
- NIPT & SCPD (NCT05076734)
- Testing
- Redraw for analysis of blood samples from healthy pregnant women
- Where
- United States
- Volunteers
- 157 people, healthy volunteers welcome
- Sponsor
- Luna Genetics
Atopic Dermatitis, Eczema
Efficacy of Marine By-product Hydrolysate on the Reduction of Atopic Dermatitis Symptoms
This interventional, double-blind, randomized, placebo-controlled study aims to evaluate the effect of a marine by-product hydrolysate supplementation on the reduction of atopic dermatitis symptoms.
- Trial name
- NCT06268847
- Testing
- ACT01, ACT02
- Where
- Spain
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- Abyss Ingredients
Health Status Unknown, Lung Cancer
Liverpool Lung Project: Risk Factors and Genetic Markers in Healthy Participants and Patients With Lung Cancer
RATIONALE: Environmental exposure and genetic predisposition may affect the risk of developing cancer later in life. Learning about genetic markers and the long-term effects of environmental exposure may help the study of lung…
- Trial name
- NCT00503958
- Testing
- DNA methylation analysis, DNA stability analysis, gene expression analysis
- Where
- 5 sites in United Kingdom
- Volunteers
- 8,300 people, healthy volunteers welcome
- Sponsor
- University of Liverpool Cancer Research Centre
Atopic Dermatitis, Eczema
Evaluating Skin Barrier Dysfunction in Infants at High Risk of Atopy
It is hypothesized that food allergy is preceded by atopic dermatitis (AD), due to a disruption of skin barrier which can predispose one to food sensitization through the skin.
- Conditions
- Atopic Dermatitis, Eczema, Food Allergy
- Trial name
- NCT03089476
- Testing
- Evaluating atopy in infants, Evaluating TEWL and STS in adults
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Jewish Health
Cystic Fibrosis
Upper Extremity Exercise Capacity, Muscle Oxygenation, Balance in Patients With Cystic Fibrosis
The primary aim of the study is to evaluate upper extremity exercise capacity, muscle oxygenation, balance and physical activity level in patients with cystic fibrosis..
- Trial name
- NCT04803643
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Gazi University
Diabetes Mellitus
Defining the Molecular and Physiological Mechanisms of Pancreatic Islet Cell Dysfunction Which Lead to Type 2 Diabetes
Defects in insulin secretion are central to the pathogenesis of type 2 diabetes (T2D) but the molecular basis and physiological consequences of those defects are poorly understood, impeding efforts to develop novel therapeutic…
- Trial name
- DIVA-Exeter (NCT02505308)
- Testing
- Glucose-Potentiated Arginine-Induced Insulin Secretion
- Where
- 2 sites in United Kingdom
- Volunteers
- 328 people, healthy volunteers welcome
- Sponsor
- Royal Devon and Exeter NHS Foundation Trust
Gout
Lesinurad/Allopurinol 200/300 Fixed-Dose Combination (FDC) Tablets Bioequivalence.
To assess the bioequivalence between lesinurad/allopurinol 200/300 FDC tablets and coadministered lesinurad and allopurinol tablets in the fasted state based on the pharmacokinetic (PK) evaluation of lesinurad and allopurinol in…
- Trial name
- NCT03272425
- Testing
- lesinurad/allopurinol 200/300 FDC tablets, lesinurad 200 mg, allopurinol 300 mg
- Where
- Brazil
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Ardea Biosciences, Inc.
Rare Genetic Disease, Undiagnosed Diseases
Research for Individualized Therapeutics in Rare Genetic Disease
The purpose of this research study is to identify individuals that have a rare genetic disease without an adequate therapeutic strategy that might be treatable with drug developed to target the disease-causing genetic alteration.
- Trial name
- NCT05236595
- Testing
- Individualized drug matching per genetic disease
- Where
- 3 sites in United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Tardive Dyskinesia, Huntington Disease
Safety, Tolerability and Pharmacokinetic of Multiple-ascending Doses of LPM3770164 in Healthy Subjects
This is a single-center, randomized, double-blind, placebo-controlled, multiple-ascending doses trial to evaluate the safety, tolerability and pharmacokinetic of LPM3770164 sustained-release tablets orally administered in healthy…
- Trial name
- NCT06216054
- Testing
- LPM3770164 sustained release tablet, LPM3770164 sustained release tablet simulant
- Where
- China
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Luye Pharma Group Ltd.
Fragile X Syndrome (FXS)
Novel Clinical Target in Fragile X Syndrome
Fragile X syndrome (FXS) is the most common genetic cause of autism spectrum disorder (ASD). The investigators wish to examine brain distribution of sigma-1 receptors in young adult males with FXS using 18F-FTC-146 PET.
- Trial name
- NCT04314856
- Testing
- 18F-FTC-146
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Guido A. Davidzon, MD, SM
CBS Deficiency
Effect of Acetaminophen and N-Acetylcysteine on Liver Metabolism on Homocystinuria
In homocystinuria due to cystathionine beta synthase (CBS) deficiency or classical homocystinuria, decreased blood cysteine levels are observed.
- Trial name
- NCT04015557
- Testing
- Acetaminophen, N-acetylcysteine
- Where
- Brazil
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Hospital de Clinicas de Porto Alegre
Alzheimer Disease, Parkinson Disease
Validation and Standardization of a Battery Evaluation of the Socio-emotional Functions in Various Neurological Pathologies
The role of disorders of socio-emotional processes in cerebral diseases such as Alzheimer's disease, frontal temporal dementia, Parkinson's disease, Huntington's disease, traumatic brain injury, stroke, focal lesions, has been…
- Conditions
- Alzheimer Disease, Parkinson Disease, Frontal Dementia, Huntington Disease
- Trial name
- GREFEXII (NCT03052712)
- Testing
- social cognition
- Where
- France
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire, Amiens
Down Syndrome
Natural History of Dysregulation and Aging of the Immune System in People With Trisomy 21 With and Without Thymectomy
Background: Down syndrome is a genetic disorder that can cause heart defects and other problems in the body. People with Down syndrome are more likely to have infections, autoimmunity, and blood diseases.
- Trial name
- NCT07416201
- Where
- United States
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Phenylketonuria
Impact Of A Phe-Restricted Diet On Gut Health In Children With PKU
Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. The mainstay of treatment is a Phe-restricted diet, which aims to maintain blood Phe concentrations within the recommended range and prevent…
- Trial name
- NCT07728032
- Testing
- Phenylalanine-restricted diet alone, Sapropterin Dihydrochloride, Sepiapterin
- Where
- United Kingdom
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- Birmingham Women's and Children's NHS Foundation Trust
Obesity, Childhood
Food Genetics Behavior Study
A genetic risk for obesity does not always translate to the development of obesity among children, which points to the presence of risk-modifying factors that likely relate to energy balance behaviors as key behavioral drivers.
- Trial name
- FOODIE (NCT05783765)
- Testing
- Heightened Drive to Eat
- Where
- United States
- Volunteers
- 317 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
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