Clinical trials: Genetic Disorders
Huntington Disease
Beta Testing of a New Assessment in Huntington's Disease (HD)
Huntington's disease (HD) is an inherited neurodegenerative disease for which there are no existing disease-modifying treatments.
- Trial name
- CAPIT-HD Beta (NCT03119246)
- Testing
- CAPIT-HD beta
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Lactose Intolerance
Comparison of the Colonic Metabolism in Patients With Lactose Intolerance and Healthy Controls
Most people are born with the ability to digest lactose, a dissacharide consisting of β-D-glucose and β-D-galactose, because of the presence of lactase at the brush border of the small intestine.
- Trial name
- NCT02171403
- Where
- Belgium
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- KU Leuven
Amyloidosis; Systemic, Amyloidosis Cardiac
Essen Amyloidosis Registry
The Essen Amyloidosis Registry (EAR) is a prospective, observational registry designed to collect comprehensive clinical data on patients diagnosed with systemic amyloidosis.
- Trial name
- EAR (NCT06887283)
- Where
- Germany
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- University Hospital, Essen
Bipolar and Related Disorders
Enhancing Cognitive Reserve of the Offsprings of Bipolar and Schizophrenic Patients
The high hereditary component and the contribution of neurodevelopmental processes in bipolar disorder and schizophrenia means implies the children of these patients are considered a high risk population for both diseases and…
- Trial name
- NCT03722082
- Testing
- Enhancing Cognitive Reserve, Support intervention
- Where
- Spain
- Volunteers
- 173 people, healthy volunteers welcome
- Sponsor
- Hospital Clinic of Barcelona
Age-Related Memory Disorders
Effectiveness of a Cognitive Training Program (UMAM Method) in Elderly People Without Dementia
The study is oriented to analyze the effectiveness of a cognitive training method (UMAM) on cognitive functions, subjective memory and mood state in elderly people without dementia.
- Trial name
- NCT04245579
- Testing
- Multifactorial Memory Training Program (UMAM method)
- Where
- Spain
- Volunteers
- 199 people, healthy volunteers welcome
- Sponsor
- Madrid Salud
Atopic Dermatitis
A First-in-Human Study of CEE321 in Adult Subjects
Open label, non-randomized, uncontrolled, First-in-Human Phase 1 Study in Healthy Subjects and Subjects with Atopic Dermatitis
- Trial name
- NCT04612062
- Testing
- CEE321
- Where
- 3 sites in United States, Japan
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Novartis Pharmaceuticals
Sarcoma, Endocrine Tumors
Comprehensive Omics Analysis of Pediatric and Adult Solid Tumors and Establishment of a Repository for Related Biological Studies
Background: Laboratory investigators who are studying common childhood cancers are interested in developing a tissue repository to collect and store blood, serum, tissue, urine, or tumors of children who have cancer or adults who…
- Conditions
- Sarcoma, Endocrine Tumors, Neuroblastoma, Retinoblastoma
- Trial name
- NCT01109394
- Where
- 5 sites in United States
- Volunteers
- 6,035 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Age-Related Macular Degeneration, Genetic Testing
The Moran AMD Genetic Testing Assessment Study
The goals of this study are: To assess the impact of genetic testing for Age-related Macular Degeneration (AMD) on lifestyle behaviors as measured by systemic and ocular carotenoid status.
- Conditions
- Age-Related Macular Degeneration, Genetic Testing, Nutritional Biomarkers
- Trial name
- MAGENTA (NCT05265624)
- Testing
- Early disclosure of genetic testing results, Late disclosure of genetic testing results
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Paul S. Bernstein
Lung; Disease, Interstitial, With Fibrosis, Alveolitis, Extrinsic Allergic
BPF Genetics of ILD Study
The investigators aim to examine the genetic determinants of interstitial lung disease in a cohort of subjects with regular exposure to pigeons, a known cause of one form of interstitial lung disease known as hypersensitivity…
- Conditions
- Lung; Disease, Interstitial, With Fibrosis, Alveolitis, Extrinsic Allergic, Bird Fancier's Lung, Idiopathic Interstitial Pneumonias
- Trial name
- BPF GILD (NCT03747627)
- Testing
- Genetic profiling
- Where
- 2 sites in United Kingdom
- Volunteers
- 475 people, healthy volunteers welcome
- Sponsor
- University of Dundee
Primary Ciliary Dyskinesia, Cystic Fibrosis
Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With CF, PCD and Healthy Children
The aim of this study is to compare pulmonary function, respiratory muscle strength, exercise capacity and peripheral muscle strength of patients with CF, PCD and healthy childrens.
- Trial name
- NCT04161313
- Testing
- Measurement of functional capacity, pulmonary function test, Functional capacity
- Where
- Turkey (Türkiye)
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Bezmialem Vakif University
Metabolic Disease, Mitochondrial Diseases
Genetic Diagnosis in Inborn Errors of Metabolism
Inborn Errors of metabolism comprise a large number of rare conditions with a collective incidence of around 1/2000 newborns. Many disorders are treatable provided that a correct diagnosis can be established in time, and for many…
- Conditions
- Metabolic Disease, Mitochondrial Diseases, Epilepsy in Children, Epilepsy
- Trial name
- NCT06376279
- Testing
- IEM-EP
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Region Stockholm
Diabetic Retinopathy, Retinal Vein Occlusion
Computer Aided Diagnosis of Multiple Eye Fundus Diseases From Color Fundus Photograph
Blindness can be caused by many ocular diseases, such as diabetic retinopathy, retinal vein occlusion, age-related macular degeneration, pathologic myopia and glaucoma.
- Conditions
- Diabetic Retinopathy, Retinal Vein Occlusion, Retinal Artery Occlusion, Central Serous Chorioretinopathy
- Trial name
- NCT04723160
- Testing
- Software assisted imaging diagnosis
- Where
- 5 sites in China
- Volunteers
- 748 people, healthy volunteers welcome
- Sponsor
- Visionary Intelligence Ltd.
Dilated Cardiomyopathy
A Study to Investigate Safety, Tolerability, and Pharmacokinetics of Oral AZD0233 Compared With Placebo in Healthy Adult Participants.
The purpose of this study is to assess the safety, tolerability, and pharmacokinetics of AZD0233 following single and multiple ascending dose (SAD and MAD) administration in healthy participants.
- Trial name
- NCT06381466
- Testing
- AZD0233
- Where
- United States
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- AstraZeneca
Colorectal Cancer, Rectal Cancer
PeLear CCC: Proyecto Latino Contra Cancer Colorrectal
The study aims to recruit 60 Spanish speaking individuals who identify as Latinos, are 18 years or older and attend the Saint Thomas More (STM) Church in Chapel Hill.
- Conditions
- Colorectal Cancer, Rectal Cancer, Colon Cancer, Colon Rectal Cancer
- Trial name
- PeLear CCC (NCT06426927)
- Testing
- Colorectal Cancer Educational Videos in Spanish
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Systememic Lupus Erythematosus, Systemic Sclerosis (SSc)
Investigation of Type I Interferon Excess in Patients With Systemic Autoimmune Diseases and Genetic Type I Interferonopathies
Systemic autoimmune diseases associated with type I interferon (IFN-I) dysregulation, such as systemic lupus erythematosus, systemic sclerosis, myositis, and mixed or undifferentiated connective tissue diseases, and genetic type…
- Conditions
- Systememic Lupus Erythematosus, Systemic Sclerosis (SSc), Inflammatory Myopathies, Connective Tissue Diseases
- Trial name
- SAFRAN (NCT07837986)
- Testing
- biological samples
- Where
- 3 sites in France
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Emphysema, Lung Diseases, Obstructive
Characterization of the Pathobiology of Early Lung Destruction in Alpha 1-Antitrypsin Deficient Individuals
Alpha 1-antitrypsin-deficient individuals develop severe destructive lung disease much earlier and their lung function declines faster than the general population of individuals with chronic obstructive lung disease.
- Conditions
- Emphysema, Lung Diseases, Obstructive, Alpha 1-Antitrypsin Deficiency
- Trial name
- NCT00001462
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Alzheimer Disease
Late Onset Alzheimer's Disease
The goal of this study is to is to focus on the genetic influences on Alzheimer's Disease (AD) risk. The investigators are looking for families and/or individuals (affected or unaffected) of any ethic background (African…
- Trial name
- LOAD (NCT05010603)
- Testing
- Blood Draw, Late Onset Alzheimer's Disease (LOAD) Neuropsychological Battery Test
- Where
- 12 sites in United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Cystic Fibrosis
Tele-Coaching Intervention to Improve Treatment Adherence in Cystic Fibrosis
This is a prospective, multicenter pilot study to investigate the feasibility and preliminary effectiveness of a tailored tele-coaching intervention to enhance medical adherence in patients with CF.
- Trial name
- NCT03921229
- Testing
- Tele-coaching
- Where
- 6 sites in United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Autism Disorders and Maternal Stress, Development Delay
Perinatal Autism Genetics and Epigenetics Study
The University of Iowa's Center for Disabilities and Development is researching how pregnancy, early childhood experiences, and genetic factors influence child development, with a focus on autism spectrum disorder (ASD).
- Conditions
- Autism Disorders and Maternal Stress, Development Delay, Prenatal Stress, Social Behavior
- Trial name
- PAGES (NCT07738003)
- Testing
- Change in child's DNA methylation, Perinatal stress, Early social experience
- Where
- United States
- Volunteers
- 7,200 people, healthy volunteers welcome
- Sponsor
- University of Iowa
Pompe-Disease
ERT in Pompe Disease: Elucidation of Molecular Structures Contributing to Enzyme Uptake and Immunoreactivity
In the first part of this study, the aim is to characterize the molecular structure of wildtype GAA and, in particular, of mutated GAA variants with and without HSAT, in order to learn how mutation impairs uptake of GAA into the…
- Trial name
- NCT05448131
- Where
- Germany
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Centre for Analytical Biochemistry and Biomedical Mass Spectrometry
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