Clinical trials: Genetic Disorders
Sickle Cell Disease, Pain
Integrative Medicine in Pain Management in Sickle Cell Disease, 2.0
The proposed research is to determine the clinical efficacy and neurobiological mechanisms of acupuncture analgesia in patients with sickle cell disease.
- Conditions
- Sickle Cell Disease, Pain, Acupuncture, Quantitative Sensory Testing
- Trial name
- NCT06725550
- Testing
- needling acupuncture, laser acupuncture
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- University of Cincinnati
Nervous System Disease, Immune System Disease
Detection and Characterization of Neurologic Manifestations of Inborn and Acquired Errors of Immunity
Background: Immune system and nervous system have significant interaction so that People with immunity diseases can have complications that affect the nervous system and people with some neurological disease may have defects in…
- Trial name
- NCT06169150
- Where
- United States
- Volunteers
- 350 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Diabetes
GLP1R Polymorphisms and Response to GLP1
Glucagon-like Peptide-1 (GLP-1) is an important incretin hormone which acts as a powerful insulin secretagogue. Defects in GLP-1 synthesis and secretion are thought to be part of the pathogenesis of type 2 diabetes.
- Trial name
- NCT00588380
- Testing
- GLP-1
- Where
- United States
- Volunteers
- 88 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Tay-Sachs Disease, Sandhoff Disease
A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2
Primary Objectives: Primary population (adult participants with late-onset GM2 gangliosidosis): To assess the efficacy and pharmacodynamics (PD) of daily oral dosing of venglustat when administered over a 104-week period…
- Trial name
- AMETHIST (NCT04221451)
- Testing
- venglustat GZ402671
- Where
- 23 sites in United States, Argentina and 11 more
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
Behcet Syndrome
Neuro-ultrasound Assessment in Behcet's Disease
Assessment of structural changes that occur in large extracranial and intracranial arteries in patients with Behcet's disease
- Trial name
- NCT04738864
- Testing
- ultrasound
- Where
- Egypt
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Assiut University
Systemic Lupus Erythematosus
Lupus Genetics Studies
The Lupus Genetics Studies and Lupus Family Registry \& Repository are working to find the genes that reveal the causes of systemic lupus erythematosus (SLE, or lupus).
- Trial name
- LFRR (NCT00071175)
- Where
- United States
- Volunteers
- 3,460 people, healthy volunteers welcome
- Sponsor
- Oklahoma Medical Research Foundation
Chiari Malformation, Type 1
Identification of Genetic Mutations Involved in Chiari Type I Malformations
Although most cases of Chiari malformation type I (CM1) are sporadic, familial cases of CM1, with or without syringomyelia, suggest a genetic cause in the pathogenesis of these malformations.
- Trial name
- ChiariGene (NCT05165030)
- Testing
- Blood Sample
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Acquired Immunodeficiency Syndrome, Alcoholism
Genetic Factors and Interrelationships for Cancer Risk-Related Behaviors and Complex Traits
We propose to conduct a multifactorial genetic study of cancer risk-related behaviors and other complex human characteristics. The main areas of interest are tobacco smoking, excess alcohol consumption, psychological traits, and…
- Conditions
- Acquired Immunodeficiency Syndrome, Alcoholism, HIV Infection, Neoplasm
- Trial name
- NCT00001500
- Where
- United States
- Volunteers
- 4,500 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Cystic Fibrosis, Non-CF Bronchiectasis
Regional Phenotyping of CF and Non-CF Bronchiectasis
The Investigators propose to study pediatric subjects who are diagnosed with cystic fibrosis (CF) and patients with non-CF bronchiectasis, with the goal of developing markers of CF lung disease severity, progression, and therapy…
- Trial name
- NCT04793867
- Testing
- Xenon
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Adrenal Hyperplasia, Congenital
Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers
Congenital adrenal hyperplasia (CAH) is a genetic disorder that affects the amount of steroids that the body forms. The most common form of CAH is 21-hydroxylase deficiency (21OHD), which leads to cortisol deficiency and causes…
- Trial name
- NCT00617292
- Where
- 4 sites in United States, Brazil and 1 more
- Volunteers
- 233 people, healthy volunteers welcome
- Sponsor
- Office of Rare Diseases (ORD)
Protein C Deficiency
Ghrelin Levels in Patients With Protein C Deficiency
In rodents with protein C deficiency elevated levels of ghrelin has been observed. The purpose of this study is to investigate if patients with protein C deficiency also have elevated levels of ghrelin, and if so, how this…
- Trial name
- NCT04180657
- Testing
- Protein C deficiency
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Atopic Dermatitis
A Study of How Safe Abrocitinib (CIBINQO) is in Pregnant Women and Their Offspring
The purpose of this observational study is to learn about the safety of abrocitinib (CIBINQO) in pregnant women and the offspring.
- Trial name
- NCT05721937
- Testing
- Abrocitinib
- Where
- United States
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Pfizer
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Ramipril Versus Carvedilol in Duchenne and Becker Patients
Data on preventive therapy in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) affected individuals without cardiac involvement are very limited and currently lacking regard both ACE-inhibitors and…
- Trial name
- NCT00819845
- Testing
- carvedilol, ramipril
- Where
- Italy
- Volunteers
- 194 people, healthy volunteers welcome
- Sponsor
- Catholic University, Italy
Homocystinuria
Proof of Concept Creatine Supplementation for Homocystinuria Study
Homocystinuria is a rare and inherited metabolic disorder, people with this condition don't have an enzyme needed to break down an amino acid called homocysteine.
- Trial name
- NCT06495567
- Testing
- Creatine, Dietary methionine tracer and protein intake
- Where
- Canada
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Fatigue in Multiple Sclerosis, Multiple Sclerosis
Fatigue in Multiple Sclerosis and Its Relationship to Inflammatory and Neurodegenerative Markers of the Disease
The study is focused on several independent quantifiable biomarkers (sNfL, sGFAP, mitochondrial activity, genetics and fatigue tests) to obtain more detailed information about MS and its progression.
- Conditions
- Fatigue in Multiple Sclerosis, Multiple Sclerosis, Neurofilaments Light Chains, GFAP
- Trial name
- MITOFATIGUE (NCT07025122)
- Where
- Slovakia
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Hospital, Martin
Mucopolysaccharidosis Type I
MRS to Determine Neuroinflammation and Oxidative Stress in MPS I
Neuroinflammation and oxidative stress have been shown to be present in persons with mucopolysaccharidosis type I (MPS I), but their effect on disease severity and disease progression is unknown.
- Trial name
- NCT03576729
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Nasopharyngeal Carcinoma (NPC)
Brain Alterations Based on Multiplex MR Imaging in Nasopharyngeal Carcinoma Patients After Treatment, and Their Correlation With Clinical Cognitive Scores.
The objective of this study is to examine the potential impact of the treatment before, during, and/or after radiotherapy on the brain in patients with nasopharyngeal carcinoma (NPC) using Multiplex (MTP) MR imaging sequence…
- Trial name
- NPC (NCT07011329)
- Testing
- Changes in the brain MTP parameters after radiotherapy
- Where
- China
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Hubei Cancer Hospital
Gout
A Clinical Trial of HEC93077 in Chinese Healthy Subjects and HUA Patients With Single or Multiple Dosing
A phase 1 clinical trial of HEC93077,to evaluate the safety ,PK,PD and food effect in Chinese healthy subjects and HUA patients after single or multiple dosing.
- Trial name
- NCT05127772
- Testing
- HEC93077
- Where
- China
- Volunteers
- 126 people, healthy volunteers welcome
- Sponsor
- Sunshine Lake Pharma Co., Ltd.
Healthy
A Study to Assess the Effects of 2 Different Prothrombin Complex Concentrates on the Pharmacodynamics of Rivaroxaban in Healthy Adult Volunteers
The purpose of this study is to assess the use of 2 different Prothrombin Complex Concentrates (PCCs) on their ability to reverse (normalize) the pharmacodynamic effects of rivaroxaban in healthy adult volunteers.
- Trial name
- NCT01656330
- Testing
- Rivaroxaban 20 mg twice daily, Rivaroxaban 20 mg once daily, Profilnine SD
- Where
- Belgium
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Janssen Research & Development, LLC
Peanut Allergy
Early Peanut Introduction: Translation to Clinical Practice
The recent finding that early introduction of peanut can prevent ~70-90% of peanut allergy is a major step towards prevention of food allergy.
- Trial name
- EPI (NCT03019328)
- Testing
- Peanut in diet
- Where
- 2 sites in United States
- Volunteers
- 333 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
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