Clinical trials: Genetics Syndrome
Cystic Fibrosis
Functional Analysis by Dynamic Imaging of the Respiratory Epithelium in Infants With Cystic Fibrosis
Cystic fibrosis (CF) is characterized by airway inflammation and infection leading to progressive destruction of lungs. One of the most important abnormalities in CF is an abnormal processing of the mutated CFTR protein through…
- Trial name
- NCT01605565
- Testing
- A nasal brushing
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Retinitis Pigmentosa, Retinal Dystrophy
Observational Study to Assess the Reliability and Validity of the MLYMT and MLSDT
This is a prospective Multi-Center Observational Study to assess the reliability and validity of the Multi-Luminance Y-Mobility Test (MLYMT) and Multi-Luminance Shape Discrimination Study (MLSDT) Main Outcome Measures: (i)…
- Trial name
- NCT05820100
- Testing
- Observational
- Where
- 8 sites in United States, Puerto Rico
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Nanoscope Therapeutics Inc.
Cystic Fibrosis
Fidgety Movements in Cystic Fibrosis
Very low birth weight infants who are at risk for chronic lung diseases may also be at risk for brain anomalies such as increased echogenicity, leukomalacia and intracranial hemorrhage.
- Trial name
- NCT03381157
- Testing
- Observational General Movements Assessments
- Where
- Turkey (Türkiye)
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Obesity, Behavior, Health
Evaluation of Brain Activity Changes After a Behavior Change Weight Loss Intervention
The aim of this study is to compare brain changes in individuals with overweight or obesity enrolled in either the Noom Healthy Weight program or a matched control.
- Conditions
- Obesity, Behavior, Health, Weight Loss
- Trial name
- NCT04522245
- Testing
- Noom Healthy Weight; mobile behavior change program for weight loss., Matched Control
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Noom Inc.
Musculoskeletal Diseases, Genetic Disease
Turkish Version of the Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T)
This study aimed to translate the Affordance in the Home Environment for Motor Development -Toddler (AHEMD-T) into Turkish and examine its psychometric properties.
- Conditions
- Musculoskeletal Diseases, Genetic Disease, Metabolic Disease, Delays Developmental
- Trial name
- NCT04556500
- Testing
- investigating the psychometric properties of Turkish Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T)
- Where
- Turkey (Türkiye)
- Volunteers
- 139 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Loeys-Dietz Syndrome
Immunopathology of Loeys-Dietz Syndrome
Loeys-Dietz syndrome (LDS) is a rare vascular genetic disorder (estimated prevalence 1/25,000-1/100,000) due primarily to mutations in the Transforming growth factor beta (TGF-β) cytokine receptor 1 and 2 genes.
- Trial name
- I-LoDiS (NCT05472519)
- Testing
- blood samples
- Where
- France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Ehlers-Danlos Syndrome, Obstructive Sleep Apnea
Obstructive Sleep Apnoea in 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
- OSA in EDS (NCT02435745)
- Where
- Switzerland
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Zurich
Sickle Cell Disease
Neurovascular Determinants of Cognitive Function in Adults With Sickle Cell Disease
Cognitive impairment is a poorly understood, serious, and emerging complication for adult patients with sickle cell disease. Because there is extensive microvascular damage from oxidative damage in sickle cell disease, the…
- Trial name
- NCT02946905
- Volunteers
- 226 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Sickle Cell Disease, Sickle Cell Trait
Bone Loss, Physical Function and Frailty in Older Women With Sickle Cell Trait Sickle Cell Trait
This is a cross-sectional, clinical research study comparing postmenopausal women of African Descent (AD) with different hemoglobin genotypes: normal and sickle cell trait (SCT). This research study has two purposes.
- Trial name
- NCT07083531
- Testing
- Healthy volunteers without SCT, Healthy volunteers with SCT
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- UConn Health
Lynch Syndrome, Endometrial Cancer
Frequency of Endometrial Cancer Precursors Associated with Lynch Syndrome
Given that there is a significant prevalence of Lynch syndrome among patients with endometrial cancer (about 5% of patients with endometrial cancer), and given there is a known risk of endometrial cancer among patients with…
- Conditions
- Lynch Syndrome, Endometrial Cancer, Endometrial Hyperplasia, Mismatch Repair Deficiency
- Trial name
- NCT05257057
- Testing
- Immunohistochemical staining
- Where
- United States
- Volunteers
- 91 people, healthy volunteers welcome
- Sponsor
- WellSpan Health
Gout Initiating Urate-loweringUrate-lowering Therapy, Gout Arthritis
HLA-B*58:01-Guided Therapy for Gout: Effectiveness, Safety, and Cost-Effectiveness
Severe cutaneous adverse reactions (SCARs), such as Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) and drug reaction with eosinophilia and systemic symptoms (DRESS), are rare but life-threatening complications that…
- Conditions
- Gout Initiating Urate-loweringUrate-lowering Therapy, Gout Arthritis, Gout and Hyperuricemia
- Trial name
- HLA-SCREEN (NCT07369622)
- Testing
- HLA-B*58:01 Genotyping, Allopurinol Tablet, Febuxostat
- Volunteers
- 228 people, healthy volunteers welcome
- Sponsor
- Haiphong University of Medicine and Pharmacy
Lipodystrophy, Familial Partial
Familial Partial Lipodystrophy Study
Studying patients with rare adipose tissue disorders may help the investigators to better understand the pathophysiology of diabetes and dyslipidemia in relation to adiposity, and thus have an enormous impact on public health.
- Trial name
- FPL (NCT02858830)
- Testing
- High fat mixed meal
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Brugada Syndrome
Right Ventricle Morphology and Hemodynamics in BrS
The study purpose is to evaluate the morphological, functional and electrophysiological characteristics of the right ventricle before and after ajmaline in patients diagnosed with Brugada syndrome as well as to correlate CMR…
- Trial name
- RV-BrS (NCT03524079)
- Testing
- Ajmaline 17-(Chloroacetate) Monohydrochloride
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato
Primary Ciliary Dyskinesia, Healthy
Examining Bronchial Hyperresponsiveness in Primary Ciliary Dyskinesia
The purpose of this study is to look at children with PCD and see if they have another condition called "bronchial hyperresponsiveness".
- Trial name
- BHR (NCT07288827)
- Testing
- Lung Function Testing, Phlebotomy, Allergy skin prick testing
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Indiana University
Lactose Intolerance
Effects Comparison of A1 and A2 Milk on Gastrointestinal Physiology, Symptoms and Cognitive Behavior
This is a single-site, double-blinded, randomized, controlled, 2X2 cross-over study aiming to compare effects of milk containing only A2 type beta casein versus milk containing both A1 and A2 beta casein proteins on the…
- Trial name
- NCT02406469
- Testing
- Oral consumption milk Tetra Pak
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- a2 Milk Company Ltd.
Connective Tissue Disease, Dissecting Aneurysm
Study of Heritable Connective Tissue Disorders
The purposes of this study are to identify the genes responsible for inherited connective tissue disorders and learn about the range of medical problems they cause.
- Conditions
- Connective Tissue Disease, Dissecting Aneurysm, Ehlers Danlos Syndrome, Marfan Syndrome
- Trial name
- NCT00001641
- Where
- United States
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Cystic Fibrosis
Investigating the Use of a Positive Parenting Programme to Improve Treatment Adherence in Cystic Fibrosis
Cystic fibrosis (CF) is an illness that makes the lungs clog up with sticky mucus. There is no cure and so treatments are used to help make the illness easier to live with.
- Trial name
- NCT02501369
- Testing
- Self-directed Teen Triple P
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Emma Wells
Sickle Cell Disease
Imatinib for Pain in Sickle Cell Anemia
In this protocol, the investigators propose to evaluate the biochemical effects of imatinib on sickle red blood cells (RBCs). Patients will be administered imatinib mesylate orally following the guidelines previously established…
- Trial name
- IMPACT (NCT03997903)
- Testing
- Imatinib Mesylate
- Where
- 2 sites in United States
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Indiana University
Gout, Hyperuricemia
Safety and Efficacy Study of Intravenous Uricase-PEG 20
The purpose of this study is to assess the safety, pharmacokinetics and pharmacodynamics of single intravenous doses of Uricase-PEG 20.
- Trial name
- NCT01021241
- Testing
- Uricase-PEG 20
- Where
- 2 sites in United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- EnzymeRx
Trisomy 21
Non-invasive Screening of Fetal Trisomy 21 by Digital PCR
In France, as in many countries of the world, trisomy 21 or Down syndrome (DS) is the subject of an antenatal screening based on a risk calculation (R) including the assay of biochemical markers in the maternal blood, and the…
- Trial name
- dPNI-T21 (NCT03687866)
- Testing
- non invasive prenatal testing
- Where
- France
- Volunteers
- 776 people, healthy volunteers welcome
- Sponsor
- University Hospital, Caen
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