Clinical trials: Genetic Condition
Atopic Dermatitis, Ichthyosis Vulgaris
Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
The investigators' primary objective is to identify common and rare mutations in the filaggrin gene in African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris.
- Trial name
- NCT01016106
- Testing
- Buccal Swab
- Where
- 2 sites in United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Northwestern University
Down Syndrome, Speech and Language Disorder
Building Sentences With Preschoolers Who Use AAC
The focus of this investigation is to compare the effectiveness of the AAC Generative Language Intervention approach to an AAC Standard of Care condition on preschool sentence productions.
- Conditions
- Down Syndrome, Speech and Language Disorder, Speech Disorders in Children, Speech Intelligibility
- Trial name
- NCT03538925
- Testing
- AAC Generative Language Intervention, Standard of Care / Business as Usual
- Where
- 2 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University of Central Florida
Type 1 Diabetes Mellitus, Genetic Predisposition to Disease
Mechanisms of Type 1 Diabetes Endophenotypes
The goal of this observational study consists of performing cluster analysis to decipher underlying disease mechanisms of type 1 diabetes in children and young adults.
- Trial name
- METYDIA (NCT05764850)
- Testing
- Genome sequencing
- Where
- Switzerland
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Pediatric Clinical Research Platform
Gout
A Study to Evaluate ALN-XDH in Healthy Subjects and Patients With Gout
The purpose of this study is to: Part A: Evaluate the safety and tolerability of single ascending doses of ALN-XDH in healthy adult participants Part B: Evaluate the safety, tolerability and efficacy of ALN-XDH as monotherapy in…
- Trial name
- NCT05256810
- Testing
- ALN-XDH
- Where
- United Kingdom
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Alnylam Pharmaceuticals
Severe Combined Immunodeficiency, Atypical
Generalized Neonatal Screening of Severe Combined Immunodeficiencies
Severe combined Immunodeficiencies ( SCID ) are a group of inherited diseases of the immune system by characterised profound abnormalities of T cell development .
- Trial name
- DEPISTREC (NCT02244450)
- Testing
- SCID screening
- Where
- 51 sites in France
- Volunteers
- 190,539 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
Obesity
Adipogenic Capacity as a Mediator of Weight Gain
To demonstrate differences in response of subjects with a high, low or medium predisposition for weight regain after weight reduction in terms of: body composition; energy expenditure; physical activity; and adipogenic capacity.
- Trial name
- NCT01015508
- Testing
- Very Low Energy Diet (VLED), Weight maintenance
- Where
- Netherlands
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Maastricht University Medical Center
Diamond Blackfan Anemia, Dyskeratosis Congenita
Cancer in Inherited Bone Marrow Failure Syndromes
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.
- Conditions
- Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome
- Trial name
- NCT00027274
- Where
- 2 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Spinocerebellar Ataxia Type 10
Genetic Mechanism of Conserved Ancestral Haplotype in SCA10
Spinocerebellar ataxia type 10 (SCA10) is a hereditary ataxia whose ancestral mutation occurred in East Asia. The mutation is likely to have migrated during peopling of American continents from East Asia.
- Trial name
- CAHSCA10 (NCT04495426)
- Testing
- Non-interventional study
- Where
- 3 sites in United States, Brazil
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- The Methodist Hospital Research Institute
Gout, Hyperuricemia
Relative Bioavailability Study to Assess an LC350189 Tablet Compared to an LC350189 Capsule in Healthy Adults
This is an open-label, randomized, crossover, single dose study. Two single doses of LC350189(tablet or capsule formulations) will be administered with a washout period of at least 4-day between the doses to investigate the…
- Trial name
- NCT04886050
- Testing
- LC350189 Tablet, LC350189 Capsule
- Where
- United States
- Volunteers
- 23 people, healthy volunteers welcome
- Sponsor
- LG Chem
Cardiomyopathy, Dilated, Prognosis
Cardiac Magnetic Resonance-Clinical Prediction Model-Dilated Cardiomyopathy
Dilated cardiomyopathy (DCM) is a common and serious heart disease characterized by left ventricular enlargement and impaired pumping function, with adverse prognosis (including heart failure, arrhythmia, heart-related…
- Conditions
- Cardiomyopathy, Dilated, Prognosis, Magnetic Resonance Imaging, Cardiac, Death, Sudden, Cardiac
- Trial name
- MPS-CMR-DCM (NCT07527715)
- Testing
- left ventricular ejection fraction
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Shandong Provincial Hospital
Hailey Hailey Disease
Efficacy of Guselkumab in Treating Hailey Hailey Disease
Hailey-Hailey disease (HHD) is a debilitating genetic skin disorder, affecting mainly body folds with erythema and painful erosions and blisters.
- Trial name
- NCT06651489
- Testing
- Guselkumab
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Yale University
Huntington Disease
Extracellular Vesicles for HD
The primary objective of this study is to discover blood-based biomarker of brain Huntingtin (HTT) protein using extracellular vesicles to be used in evaluating target engagement in HTT lowering clinical trials.
- Trial name
- NCT06082713
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Central Florida
Myotonic Dystrophy 1, Muscular Dystrophies
Myotonic Dystrophy Type 1 Aerobic Exercise Study
Myotonic dystrophy type 1 (DM1) is a genetic disease that primarily targets skeletal muscle resulting in severe weakness and muscle loss.
- Trial name
- DM1ex (NCT04187482)
- Testing
- Exercise training
- Where
- Canada
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- McMaster University
Obesity, Diet Habit
FTO Gene Variants and Diet in Obesity
Studies have shown that the effect of fat mass and obesity-associated (FTO) gene on obesity is modulated by lifestyle factors. Hence, we aimed to determine whether two single nucleotide polymorphisms (SNPs) in the FTO gene are…
- Conditions
- Obesity, Diet Habit, Genetic Predisposition
- Trial name
- NCT04205318
- Where
- Turkey (Türkiye)
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Thalassemia
T2* in Transfusion Dependant Anemia, MI, LVF, Normal Patients
The purpose of this study is to provide accurate prognostic data linking cardiac complications to myocardial T2* values (A measure of iron levels in the heart using MRI)in patients predisposed to heart iron overload.
- Trial name
- NCT00520559
- Volunteers
- 652 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Thalassemia, Folic Acid Deficiency Anemia
Effect of Folic Acid Supplementation in Pregnant Women Having Thalassaemia Trait
Folic acid supplementation has been recommended for prevention of neural tube defects in pregnancy when taken periconceptionally up to 12 weeks of gestation.
- Trial name
- NCT04310059
- Testing
- Folic acid, Materna
- Volunteers
- 270 people, healthy volunteers welcome
- Sponsor
- The University of Hong Kong
Hereditary Cancer-Predisposing Syndrome
Inherited Risk Evaluation Tool (InheRET): Identifying Patients at Increased Risk for Hereditary Disease
This study will evaluate the impact InheRET™, an online family history gathering and risk assessment reporting tool, has on facilitating National Comprehensive Cancer Network(NCCN) guideline compliant referrals for cancer genetic…
- Trial name
- NCT04510896
- Testing
- InheRET, Patient Acceptance, Physician Acceptance Survey
- Where
- 4 sites in United States
- Volunteers
- 2,232 people, healthy volunteers welcome
- Sponsor
- InheRET, Inc
Retinitis Pigmentosa
Clinical Study to Evaluate Safety and Efficacy of BMMNC in Retinitis Pigmentosa
Retinitis pigmentosa is an eye disease in which there is damage to the retina. The retina is the layer of tissue at the back of the inner eye that converts light images to nerve signals and sends them to the brain.Autologous Bone…
- Trial name
- NCT01914913
- Testing
- BMMNCs
- Where
- India
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Chaitanya Hospital, Pune
Major Depression
Blood Biomarkers in Suicidal Behaviour
Suicidal behavior (SB) is a major public health problem in France, with more than 10,000 suicides and 220,000 suicide attempts per year.
- Trial name
- 2BSB (NCT02855918)
- Testing
- Blood sample for genetic purpose
- Where
- France
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Hyper-IgM Syndrome, Ectodermal Dysplasia
Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States
This study investigates gene abnormalities in Primary Immune Deficiency(PID) with a goal of improving the diagnosis and treatment of patients. The specific disorders include: 1.
- Trial name
- NCT00266513
- Where
- United States
- Volunteers
- 119 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
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