Clinical trials: Genetic Disorders
Duchene Muscular Dystrophy, Becker Muscular Dystrophy
Multiparametric Ultrafast Ultrasound Biomarkers for Duchenne and Becker Muscular Dystrophies
The purpose of this research study is to determine the potential of a multiparametric ultrasound approach to non-invasively monitor disease progression and to serve as an objective outcome measure for future clinical trials in…
- Trial name
- INNOVAN (NCT07378553)
- Where
- France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
GVHD, Bone Marrow Transplant Failure
α1-antitrypsin (AAT) Levels and Functions in Allogeneic Bone Marrow Transplantation and Throughout Progression Into GVHD
Create a personalized time and context curve of patient circulating α1-antitrypsin (AAT) levels and functions before hematopoietic stem cell transplantation and throughout progression into GVHD. PRIMARY ENDPOINT 1.
- Conditions
- GVHD, Bone Marrow Transplant Failure, Alpha 1-Antitrypsin
- Trial name
- AATGVHD-MARK (NCT03188601)
- Where
- 4 sites in Israel
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Rambam Health Care Campus
Fabry Disease
A Co-designed Physical Activity Intervention in Fabry Disease
Currently, treatments for Fabry disease are pharmacological and predominantly focus on the physical symptoms of the disease. In the general population and individuals with disabilities, increasing physical activity levels and…
- Trial name
- NCT06257901
- Testing
- Interviews/Focus groups/Participatory workshops
- Where
- United Kingdom
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Brunel University
Amyloidosis, Cardiac Amyloidosis
Study of Olfactory Disorders in Patients With Cardiac Amyloidosis
Amyloidosis is a disease caused by the continuous accumulation of fibrillary proteins in the extracellular matrix causing the architecture of different organs to be disrupted. The prevalence of the disease increases with age.
- Conditions
- Amyloidosis, Cardiac Amyloidosis, Olfactory Loss, Hyposmia
- Trial name
- AMYLODOR (NCT04661800)
- Testing
- Sniffin's stick test
- Where
- France
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Atopic Dermatitis (Eczema), Psoriasis
The Impact of Salt Intake on Sodium in the Skin and Inflammatory Skin Disease
The goal of this clinical trial is to demonstrate the feasibility of a trial that examines the impact of changes in dietary sodium intake on skin sodium levels, atopic dermatitis, and psoriasis.
- Trial name
- SIS-ISD (NCT07487831)
- Testing
- Sodium chloride tablets
- Where
- 2 sites in United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Duchenne Muscular Dystrophy
PDE Inhibitors in DMD Study (Acute Dosing Study)
PDE5A inhibition, which boosts NO-cGMP signaling, will relieve functional muscle ischemia and restore normal blood flow regulation (i.e., functional sympatholysis) during exercise in boys with DMD.
- Trial name
- NCT01580501
- Testing
- Tadalafil and Sildenafil
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Cedars-Sinai Medical Center
Low Von Willebrand Factor
Genetic Background of Patients With Low Von Willebrand Factor Levels
Von Willebrand disease (VWD) is caused by either quantitative or qualitative von Willebrand (VWF) defects and is the commonest inherited bleeding disorder with an estimated prevalence of about 1% in the general population.
- Trial name
- LOVMIC (NCT05116501)
- Testing
- Whole-exome sequencing
- Where
- Italy
- Volunteers
- 254 people, healthy volunteers welcome
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Hereditary Spastic Paraplegia, SPG47
Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia
The Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP) is focused on gathering longitudinal clinical data as well as biological samples (skin and/or blood and/or saliva) from male and female…
- Conditions
- Hereditary Spastic Paraplegia, SPG47, SPG50, SPG51
- Trial name
- HSP (NCT04712812)
- Where
- United States
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Diabetes Mellitus
Genetics of Type 1 Diabetes in Chinese Adolescents and Youth
primary outcome: To explore the genetic susceptibility of diabetes in Chinese adolescent and youth. secondary outcomes: 1. To classify diabetes by gene detection in Chinese adolescent and youth. 2.
- Trial name
- NCT01938365
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Shanghai Jiao Tong University School of Medicine
Stress Reduction
The Impact of a Self-help Coping App on Distress Levels in Men Experiencing Infertility
The purpose of this study is to determine if the use of a new app, FertiStrong, is associated with decreased levels of anxiety and depression in men who have infertility or whose partner has infertility.
- Trial name
- NCT03519607
- Testing
- FertiStrong App
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Fertility Centers of Illinois
Skin Laxity
Safety and Efficacy of Sofwave Treatment to Lift Lax Skin
Open-label, non-randomized 2 arms prospective, multi-center, self-controlled clinical study with masked evaluation.
- Trial name
- NCT04829227
- Testing
- Sofwave
- Where
- 4 sites in United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Sofwave Medical LTD
Danon Disease, Fabry Disease
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome
- Trial name
- NCT07336394
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Urea Cycle Disorders, Inborn, Other Metabolic Diseases
Protein Sorbent Properties of Montmorillonite in Vitro and in Vivo Models
Montmorillonite (MONT) is a phyllosilicate layered mineral with unique physicochemical properties, such as swelling and cation exchange capability.
- Trial name
- NCT02124330
- Testing
- montmorillonite 5 g, montmorillonite 3 g, Montmorillonite 1 g
- Where
- Italy
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Luca Ronfani
Anemia
A Safety and Tolerability Study of AG-519 in Healthy Subjects
The purpose of the study is to investigate a drug called AG-519, which is being developed for the treatment of a disease called pyruvate kinase deficiency (also known as PK deficiency) and other forms of anemia.
- Trial name
- NCT02630927
- Testing
- AG-519
- Where
- United Kingdom
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- Agios Pharmaceuticals, Inc.
Dermatitis, Atopic
A Study Assessing GW870086's Potential to Cause Skin Thinning
This study is a randomised, double-blind, placebo-controlled study of topical GW870086 to explore the potential for skin thinning in healthy adult volunteers after 42±2 days of treatment.
- Trial name
- NCT01381445
- Testing
- GW870086 0.2%, GW870086 2%, Clobetasol Propionate
- Where
- Germany
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Genetics, Genetic Disease
Personalized Genomic Research
Background: Congenital malformations, sometimes called birth defects, occur because of a difference in early human development. There are many different types of congenital malformations, and some of these can be caused by…
- Conditions
- Genetics, Genetic Disease, Genetic Linkage, Birth Defects
- Trial name
- NCT01294345
- Where
- United States
- Volunteers
- 353 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Neurofibromatosis 2, Vestibular Schwannoma
Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors
The purpose of this study is to determine if Lapatinib has any effect on tumors found in patients with Neurofibromatosis Type 2 (NF2). NF2 is a condition that mainly affects the skin and nervous system.
- Trial name
- NCT00973739
- Testing
- Lapatinib
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- NYU Langone Health
Progressive Supranuclear Palsy
Risk Factors for Progressive Supranuclear Palsy (PSP)
Progressive supranuclear palsy (PSP) is the most common atypical parkinsonian movement disorder. This study will determine the role of specific genetic, occupational and environmental components in the development of PSP by…
- Trial name
- NCT00431301
- Where
- 10 sites in United States, Canada
- Volunteers
- 942 people, healthy volunteers welcome
- Sponsor
- University of Louisville
Drug Coating Balloon (DCB), Sequent Please
SeQuent Please Neo Multicenter Registry
The registry evaluates the safety and efficacy of paclitaxel-releasing SeQuent® Please Neo balloon in the following scenarios: restenosis, bifurcation lesions, small vessel lesions, diabetes (diffuse disease) and atrial…
- Trial name
- NCT04493112
- Where
- Spain
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Germans Trias i Pujol Hospital
Familial Hypercholesterolemia, Nutrition, Healthy
Unravelling the Impact of Diet on Cardiovascular Health in Heterozygous Familial Hypercholesterolemia.
The investigators will first conduct a fully controlled dietary randomized crossover trial (RCT) including 50 adults with HeFH to investigate the impact of a whole food plant-based (WFPB) diet low in red and processed meats and…
- Conditions
- Familial Hypercholesterolemia, Nutrition, Healthy, Cholesterol, Elevated, Cholesterol; Metabolic Disorder
- Trial name
- FH-Diet (NCT05181553)
- Testing
- Whole-food plant based diet (WFPB diet), Standard North American diet (SAD diet)
- Where
- Canada
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Laval University
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.