Clinical trials: Genetic Condition, active
Pregnancy Related, Cystic Fibrosis
Prospective Study of Pregnancy in Women With Cystic Fibrosis
In this study, the investigators aim to evaluate changes in lung function in women with cystic fibrosis (CF) during pregnancy and for 2 years after pregnancy based on exposure to highly effective cystic fibrosis transmembrane…
- Trial name
- MAYFLOWERS (NCT04828382)
- Where
- 40 sites in United States
- Volunteers
- 285 people
- Sponsor
- Amalia Magaret
Congenital Heart Defects
Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)
Congenital heart defects (CHD) are the most common major human birth malformation, affecting ~8 per 1,000 live births. CHD are associated with significant morbidity and mortality, and are second only to infectious diseases in…
- Trial name
- CHD GENES (NCT01196182)
- Where
- 15 sites in United States, United Kingdom
- Volunteers
- 32,000 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Familial Pancreatic Cancer, BRCA1 Mutation
Registry of Subjects at Risk of Pancreatic Cancer
IRFARPC is a multicenter national registry designed to study the diagnosis and predisposing factors of subjects with an inherited increased risk for pancreatic cancer.
- Conditions
- Familial Pancreatic Cancer, BRCA1 Mutation, BRCA2 Mutation, Lynch Syndrome
- Trial name
- IRFARPC (NCT04095195)
- Testing
- MRCP, Endoultrasonography
- Where
- 4 sites in Italy
- Volunteers
- 1,000 people
- Sponsor
- Associazione Italiana per lo Studio del Pancreas
Alpha-1-antitrypsin Deficiency
Czech AATD Registry
Alpha-1-antitrypsin deficiency is the most common congenital disease of the respiratory system, leading to early pulmonary emphysema or bronchiectasis. Pulmonary involvement significantly accelerates active cigarette smoking.
- Trial name
- NCT05178277
- Where
- Czechia
- Volunteers
- 300 people
- Sponsor
- Thomayer University Hospital
Colorectal Carcinoma, Lynch Syndrome
Collecting Blood and Stool Samples to Detect Colorectal Cancer or Advanced Neoplasia in Lynch Syndrome Patients
This study collects blood and stool samples from patients with suspected or diagnosed Lynch syndrome to evaluate a deoxyribonucleic acid (DNA) screening technique for the detection of colorectal cancer in Lynch syndrome patients.
- Trial name
- NCT05410977
- Testing
- Biospecimen Collection, Electronic Health Record Review
- Where
- 9 sites in United States
- Volunteers
- 950 people
- Sponsor
- Mayo Clinic
Neonatal Screening, Lysosomal Storage Diseases
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
The study will include all newborns in Normandie region for 3 years (about 105,000 births) for whom signed consent by one (or two) parents will be collected.
- Trial name
- LysoNeo (NCT04393701)
- Testing
- Additional blood sampling
- Where
- 2 sites in France
- Volunteers
- 100,000 people
- Sponsor
- University Hospital, Rouen
Sickle Cell Disease, Sickle Cell Anemia in Children
Development of a Provider-Focused Intervention to Improve Health Outcomes in Pediatric Sickle Cell Disease
The goal of this interventional study is to learn about the impact of an intervention for health care providers that teaches individuation and perspective-taking (IPT) skills to enhance patient-centered communication in pediatric…
- Conditions
- Sickle Cell Disease, Sickle Cell Anemia in Children, Sickle Cell Disease (SCD), Sickle Cell
- Trial name
- NCT07540767
- Testing
- Individuation and Perspective-Taking (IPT), pediatric SCD pain management education session
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Connecticut Children's Medical Center
ADPKD (Autosomal Dominant Polycystic Kidney Disease)
Mass Balance and Absolute Bioavailability Study of JMKX003142 In Healthy Volunteers
A phase 1 healthy volunteer study to assess the excretion and metabolism as well as the absolute bioavailability of oral JMKX003142.
- Trial name
- NCT07463053
- Testing
- [14C]JMKX003142, JMKX003142 tablets, [14C]JMKX003142 solution for infusion
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Jemincare
Lynch Syndrome, Crohn Disease
A Study for Imaging the Lower Gastrointestinal Tract Using a Retro-TCE Capsule
The investigators have developed an inexpensive tool to take pictures in the lower GI tract without sedation and to look for signs of disease.
- Conditions
- Lynch Syndrome, Crohn Disease, Inflammatory Bowel Diseases, Healthy
- Trial name
- NCT07219537
- Testing
- Feasibility of using an OCT-based Retrograde Tethered Capsule Endomicroscope device to image the lower GI tract
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Atopic Dermatitis
A Clinical Study to Evaluate SM17 for Atopic Dermatitis
This trial is a phase 2, randomized, double-Blind, placebo-Controlled, dose-finding clinical study conducted in participants with moderate-to-severe atopic dermatitis.
- Trial name
- NCT07445919
- Testing
- SM17 for subcutaneous injection
- Where
- China
- Volunteers
- 200 people
- Sponsor
- SinoMab BioScience Ltd
Ischemic Stroke
Different Treatment Strategies on Prognosis of Acute Ischemic Stroke(AISDTS)
AISDTS is a prospective registry study, in which clinical information, examination and imaging data of patients with acute ischemic stroke receiving different treatment strategies were collected, grouped and statistically…
- Trial name
- NCT05410457
- Where
- China
- Volunteers
- 5,000 people
- Sponsor
- Nanjing First Hospital, Nanjing Medical University
ATTR-CM (Transthyretin Amyloid Cardiomyopathy), Heart Failure
Right Ventricular Septal Biopsy to Detect Cardiac Amyloidosis
People eligible for this study have had the suggestion from their doctor to receive a cardiac pacemaker or defibrillator to treat a cardiac condition as part of their routine care.
- Trial name
- RV-CAM (NCT07784712)
- Volunteers
- 70 people
- Sponsor
- Geisinger Clinic
Hypertension, Diabetes
Genetics of Type 2 Diabetes in West Africans
Background: Type 2 diabetes (T2D) and associated complications are major contributors to the global disease burden. T2D is already a major health threat in populations in developed countries and is rapidly taking hold in the…
- Trial name
- NCT00837122
- Where
- 5 sites in Ghana, Nigeria
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Glycogen Storage Disease Type I
Dietary Treatment Strategies and Metabolic Control in Glycogen Storage Disease Type I
The present project will specifically assess metabolic effects of dietary interventions with controlled intake of fructose and fructose/galactose in GSDI, with the aim to provide evidence whether relaxed dietary restrictions of…
- Trial name
- GSD-DIET (NCT06852612)
- Testing
- Fructose, Fructose and galactose
- Where
- 2 sites in Switzerland
- Volunteers
- 20 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Urinary Incontinence
Clinical Study of External Electrical Stimulation for Male Incontinence
The purpose of this research is to evaluate the effectiveness of the Elidah neuromuscular stimulation treatment to reduce incontinence in men post-prostatectomy.
- Trial name
- NCT06620419
- Testing
- Perineal-applied electrical stimulation
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Elidah, Inc.
Parkinson's Disease, Parkinsonian Disorders
Gait Analysis in Neurological Disease
The purpose of this study is to investigate whether speed-dependent measures of gait (so called gait signatures) can be identified in patients with neurological conditions that affect gait, particularly in subjects with…
- Conditions
- Parkinson's Disease, Parkinsonian Disorders, Atypical Parkinson Disease, Progressive Supranuclear Palsy
- Trial name
- NCT02994719
- Testing
- Anti-Parkinson medication, Deep Brain Stimulation
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
0.5-14 Year Old Children With Nephroblastoma
Combination Therapy of Anthracyclines for Children With Nephroblastoma
This study aims to estimate the efficacy and side effects of study drugs in children with nephroblastoma who are treated with combination therapy.
- Trial name
- NCT03892330
- Testing
- Vincristine, Oxytetracycline/ Cyclophosphamide, Liposomal doxorubicin
- Where
- China
- Volunteers
- 120 people
- Sponsor
- Shengjing Hospital
Multicystic Dysplastic Kidney, Polycystic Kidney Disease
Amnioinfusion for Fetal Renal Failure
The goal of this clinical trial is to learn if serial amnioinfusions can improve the chances of survival for fetuses with severe kidney problems that cause low amniotic fluid (anhydramnios).
- Conditions
- Multicystic Dysplastic Kidney, Polycystic Kidney Disease, Fetal Renal Anomaly, Anhydramnios
- Trial name
- NCT06728228
- Testing
- Amnioinfusion
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Fetal Care Center, PLLC
Sickle Cell Disease (SCD)
Self-administered Acupressure in Patients With Sickle Cell Disease
The proposed research is to determine the clinical efficacy and neurobiological mechanisms of acupressure analgesia in patients with sickle cell disease (SCD).
- Trial name
- NCT07875777
- Testing
- Verum Acupressure (using AcuWand)
- Where
- 2 sites in United States
- Volunteers
- 300 people
- Sponsor
- University of Cincinnati
Sickle Cell Disease, Sickle Cell Crisis
Optimal Timing of Ketamine Initiation for SCD Pain
The goal of this clinical trial is to learn if the use of early ketamine decreases the chance of admission to the hospital in patients with sickle cell disease presenting with pain.
- Trial name
- NCT07450430
- Testing
- Ketamine hydrochloride injection
- Where
- United States
- Volunteers
- 90 people
- Sponsor
- Boston Children's Hospital
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