Clinical trials: Genetic Disorders
Parkinson Disease, REM Sleep Behavior Disorder
Implementing a National Biobank of PD With WGS and Functional Assessment of Polygenic Inheritance by iPSC Technology
The genetic complexity and heterogeneity of the sporadic forms of Parkinson's disease (PD) are posing a formidable challenge to disentangle their direct molecular causes.
- Trial name
- NCT05721911
- Testing
- whole genome sequencing
- Where
- Italy
- Volunteers
- 230 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
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
Glycogen Storage Disease Type 2, Dystrophia Myotonica
An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica-
The aim of the project is to develop new Magnetic Resonance (MR) imaging techniques for better diagnosis and monitoring of patients with muscular disorders.
- Trial name
- NCT02708784
- Where
- 2 sites in Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Haemophilia
Inter Individual Variability in Initiation Pathway Activation and Regulation and Phenotypic Heterogeneity in Patients With Haemophilia A and B
Severe haemophilia A and B (SHA, SHB) are X - linked inherited bleeding disorders, characterised by factor VIII and IX levels of <1 IU/dL respectively.
- Trial name
- InPath (NCT03287999)
- Testing
- Thrombophilia screen, Initiation pathway analysis
- Where
- United Kingdom
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Royal Free Hospital NHS Foundation Trust
Visual Snow Syndrome, Color Blindness
Study of Visual Perception Phenomena: Phosphene Mapping Induced by TMS and Its Relationship With Eye Movements
The purpose of this basic science study is to better understand human visual perception. Phosphenes are flashes of light that can be induced using Transcranial Magnetic Stimulation (TMS).
- Conditions
- Visual Snow Syndrome, Color Blindness, Healthy Volunteer
- Trial name
- NCT07110493
- Testing
- Transcranial Magnetic Stimulation (TMS), Electroencephalography (EEG), Eye-Tracking
- Where
- Russia
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Skolkovo Institute of Science and Technology
WAGR Syndrome, Wilm's Tumor
Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of…
- Conditions
- WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities
- Trial name
- NCT00758108
- Where
- United States
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Inherited Metabolic Disorders, Undiagnosed Diseases
Caregiving Networks Across Disease Context and the Life Course
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs
- Trial name
- NCT05007990
- Where
- United States
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Coronary Artery Disease, Genetic Predisposition to Disease
Genetic Risk Stratification for Primary Prevention of CAD in Men and Pre & Post-menopausal Women
The investigators propose to genotype males and females at age 40 years and older, who are asymptomatic and without known heart disease (N=2000).
- Trial name
- NCT05169840
- Testing
- Genetic Risk Score for Coronary Artery Disease
- Where
- 3 sites in United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- St. Joseph's Hospital and Medical Center, Phoenix
Corneal Dystrophy
Corneal Endothelium Morphology and Central Thickness in Type II Diabetes Mellitus and Normal Subjects
The purpose of this study is to compare corneal endothelium morphology and central thickness in type II Diabetes Mellitus and normal subjects with special reference to glycemic status.
- Trial name
- NCT01084850
- Where
- Denmark
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Frederiksberg University Hospital
Sickle Cell Disease, Hemoglobinopathies
Non-Myeloablative Conditioning and Bone Marrow Transplantation
Allogeneic blood or marrow transplantation (alloBMT) is a curative therapy for a variety of hematologic disorders, including sickle cell disease and thalassemia.
- Trial name
- NCT01850108
- Testing
- Thymoglobulin, Fludarabine, Cyclophosphamide (CTX)
- Where
- 3 sites in United States, France and 1 more
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Vanderbilt-Ingram Cancer Center
Ehler's Danlos Syndrome, Obstructive Sleep Apnea
Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
- Trial name
- NCT02712060
- Testing
- No intervention
- Where
- Switzerland
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Zurich
Coronary Heart Disease
Rapid Engagement for Solutions to Population and Outcomes Through Networked Dialogue for Coronary Heart Disease
Cardiometabolic diseases are major causes of morbidity and mortality in the state of Wisconsin and are expected to pose an increasing burden over the next few decades.
- Trial name
- RESPOND (NCT07260552)
- Testing
- Polygenic risk score
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Medical College of Wisconsin
Hemophilia A, Hemophilia B
Gaining Insight Into the Complexity of Pain in Patients With Haemophilia
Joint pain has been reported as a major problem in people with haemophilia (PwH). Therefore, haemophilia in adults seems clinically more related to a musculoskeletal disorder than a bleeding disorder, with many patients reporting…
- Trial name
- NCT05606640
- Testing
- Biopsychological pain assessment
- Where
- 2 sites in Belgium
- Volunteers
- 104 people, healthy volunteers welcome
- Sponsor
- Universiteit Antwerpen
Disorder of Sex Development, Intersex Conditions
Decision Support for Parents Receiving Information About Child's Rare Disease
The birth of a child with a disorder of sex development (DSD) is stressful for parents and members of the healthcare team. The "right" decisions about gender assignment (is it a boy? a girl?) and the best course of action (e.g.…
- Conditions
- Disorder of Sex Development, Intersex Conditions, Congenital Adrenal Hyperplasia, Hypospadias
- Trial name
- DSD DST (NCT01875640)
- Where
- 4 sites in United States
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Huntington Disease
IMarkHD: in Vivo Longitudinal Imaging of HD Pathology
iMarkHD is an adaptive, longitudinal positron emission tomography (PET) and magnetic resonance (MR) imaging study in Huntington's disease (HD) that aims to assess abnormal molecular, functional, and structural changes in…
- Trial name
- NCT03434548
- Testing
- PET imaging, Multi-modal MRI imaging
- Where
- United Kingdom
- Volunteers
- 113 people, healthy volunteers welcome
- Sponsor
- King's College London
Retinal Diseases, Stargardt's Disease
Microcurrent Stimulation to Treat Macular Degeneration
Microcurrent stimulation thereapy improves retinal efficiency and may restore and/or improve retinal function.
- Conditions
- Retinal Diseases, Stargardt's Disease, Retinitis Pigmentosa
- Trial name
- NCT01790958
- Where
- 4 sites in United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Retina Institute of Hawaii
Sickle Cell Disease
Sickle Cell Pro-Inflammatory Response to Interval Training Study
Recommendations for exercise prescription currently do not exist for individuals with sickle cell anemia (SCA) despite the known impact that SCA-related complications has on physical functioning and fitness.
- Trial name
- SPRINTS (NCT03653676)
- Testing
- Exercise Test (CIIT)
- Where
- 3 sites in United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Ann & Robert H Lurie Children's Hospital of Chicago
Well-Being, Psychological, Loneliness
Physiological, Hormonal, and DNA-based Mechanisms of Psychosocial Stress and Therapeutic Effect
The goal of this trial is to learn if the Groups 4 Health (G4H) intervention is effective in supporting student well-being at the University of Helsinki.
- Trial name
- NCT07152652
- Testing
- Groups 4 health
- Where
- Finland
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- University of Helsinki
Cellulite
Treatment for Cellulite Appearance
Open-label, non-randomized, prospective, multi-center, self-controlled clinical study with masked evaluation.
- Trial name
- NCT05358847
- Testing
- Sofwave
- Where
- 4 sites in United States
- Volunteers
- 69 people, healthy volunteers welcome
- Sponsor
- Sofwave Medical LTD
Skin Laxity
Ultherapy® for Treating the Face and Neck Using Standard Versus Simulines Transducers
Up to 40 participants will be enrolled, randomized and treated. Enrolled participants will receive one, split-face Ulthera® treatment on the face and neck using a Ulthera System standard transducer on one side of the face and a…
- Trial name
- NCT02416076
- Testing
- Ulthera Treatment at EL2, Ulthera Treatment at EL4
- Where
- 3 sites in United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Ulthera, Inc