Clinical trials: Genetic Disorder
Huntington Disease
Move to Improve: Telehealth Exercise to Music for HD
The purpose of this study is to determine if a movement to music exercise program delivered via telehealth is feasible and safe for individuals with neurodegenerative disease and their caregivers (Aim 1).
- Trial name
- MtI (NCT05270681)
- Testing
- Movement to Music
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Ohio State University
Hemophilia A, Hemophilia B
Pre-clinical Models for Mesenchymal Stem Cell Therapy in Hemophilic Arthropathy
Hemophilia is a constitutional coagulation disorder responsible for a hemorrhagic phenotype in patients from an early age. Hemarthrosis is one of the most frequent complications in hemophiliacs and leads to the development of…
- Conditions
- Hemophilia A, Hemophilia B, Arthropathy
- Trial name
- NCT05187936
- Where
- France
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
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
Sarcopenic Obesity, Sarcopenia
Evaluation Of DNA Methylation Pattern In Healthy, Sarcopenic, Obese And Sarcopenic Obese Older Women: A Cross-Sectional Study
INTRODUCTION: Sarcopenic obesity (SO), a functional and clinical condition, is characterized by the coexistence of obesity, marked by excess fat mass and sarcopenia, characterized by reduced strength and muscle mass.
- Conditions
- Sarcopenic Obesity, Sarcopenia, Obesity, Epigenesis, Genetic
- Trial name
- NCT06618430
- Testing
- None (Observational Study)
- Where
- Brazil
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Alzheimers Disease, Dementia
Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation.
The purpose of this study is to assess the safety, tolerability, biomarker and cognitive efficacy of investigational products in subjects who are known to have an Alzheimer's disease-causing mutation by determining if treatment…
- Conditions
- Alzheimers Disease, Dementia, Alzheimers Disease, Familial
- Trial name
- DIAN-TU (NCT04623242)
- Testing
- Gantenerumab, Solanezumab
- Where
- 25 sites in United States, Australia and 6 more
- Volunteers
- 194 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Genetic Counseling, Shared Decision Making
Comparing Game Facilitated Interactivity to Genetic Counseling for Prenatal Screening Education
Advancements in prenatal genetic screening have significantly improved the identification of chromosomal abnormalities and heritable conditions during pregnancy, yet current standards for patient education in this domain are…
- Conditions
- Genetic Counseling, Shared Decision Making, Pregnancy, Genetic Testing
- Trial name
- NCT05360095
- Testing
- Meaning of Screening, Genetic Counseling, Usual Care
- Where
- 3 sites in United States
- Volunteers
- 2,045 people, healthy volunteers welcome
- Sponsor
- Erin Rothwell
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.
Testicular Cancer
WEST-KOaST Study: WES Analysis of Testicular Cancer Patientsand Their First-degree Family Members
The project aims to identify the possible risk factors regarding the onset of the disease and to evaluate genes and gene modifications responsible for the onset od testicular cancer.
- Trial name
- West-KOaSt (NCT06142500)
- Testing
- Analysis of biological samples of saliva from testicular cancer patients and from their first-degree family members
- Volunteers
- 4,500 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
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
Parkinson Disease, PD
Genetic Characterization of Parkinson's Disease
This study will explore the risks and causes of Parkinson's disease, a chronic progressive nervous system disorder. Patients typically have tremors, muscle weakness and a shuffling gait.
- Conditions
- Parkinson Disease, PD, Movement Disorder, Healthy Volunteer
- Trial name
- NCT00105131
- Where
- United States
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Amyotrophic Lateral Sclerosis
Clinical Research in ALS Study
CRiALS is an umbrella protocol through which people are recruited to participate in a range of research studies being conducted by the ALS Research Collaboration (ARC).
- Trial name
- CRiALS (NCT00136500)
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- University of Miami
Diabetes Mellitus, Type 1
PINIT Study: Primary Intranasal Insulin Trial
Type 1 diabetes (T1D) results from an autoimmune destruction of the insulin-producing beta cells. Administration of mucosal insulin in islet autoantibody-negative children who are genetically predisposed for T1D offers the…
- Trial name
- NCT03182322
- Testing
- intranasal insulin
- Where
- 2 sites in Germany
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Technical University of Munich
Psoriasis
Evaluation of IL 12B Genetic Polymorphism (rs3213094)
Psoriasis is a skin disorder that is chronic proliferative and inflammatory in nature. Extensor surfaces, scalp, and lumbosacral area are covered in erythematous plaques with silvery scales.
- Trial name
- NCT07128472
- Testing
- Humira
- Where
- Egypt
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- South Valley 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
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