Clinical trials: Genetic Disorders
Fragile X Syndrome
Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome
Fragile X Syndrome (FXS) is the most common known inherited form of mental impairment, developmental disability and autism. Minocycline is an antibiotic that has recently been used to treat the mouse model for Fragile X, and was…
- Trial name
- NCT00858689
- Testing
- Minocycline
- Where
- Canada
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- FRAXA Research Foundation
Pheochromocytoma, Paraganglioma
Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous.
- Conditions
- Pheochromocytoma, Paraganglioma, Inherited Cancer Syndrome, Associated Conditions
- Trial name
- NCT03160274
- Testing
- Genetic screening
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center at San Antonio
Polycystic Kidney Disease
Early PKD Observational Cohort Study
This observational study will collect blood and urine and clinical information from individuals with early-stages of polycystic kidney disease (PKD), their unaffected siblings and normal volunteers to create a biobank, also…
- Trial name
- EPOC (NCT02936791)
- Where
- 3 sites in United States
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- University of Kansas Medical Center
Basal Cell Carcinoma, Squamous Cell Carcinoma
Photochemical Tissue Bonding
The broad aim of this study is to evaluate the efficacy of photochemical tissue bonding (PTB) for the closure of skin excisions.
- Conditions
- Basal Cell Carcinoma, Squamous Cell Carcinoma, Atypical Nevus
- Trial name
- PTB (NCT00586040)
- Testing
- tissue bonding, sutures
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Nutrition, Pediatric Obesity
Metabolic and Genetic Impacts of Energy Drinks in Youth
Caffeine containing energy drinks (CCED) are beverages that typically contain mixtures of simple sugars, caffeine and may contain vitamin, mineral and/or herbal preparations.
- Conditions
- Nutrition, Pediatric Obesity, Pediatric, Caffeine
- Trial name
- NCT03512496
- Testing
- Acute energy drink - Caffein, Acute energy drink - Decaf
- Where
- Canada
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Calgary
Skin Laxity (Submental and Neck), Skin Lifting and Tightening
Safety and Efficacy of a 2,910 nm Fractional Ablative Fiber Laser (UltraClear®) for Improvements of Skin Laxity and Lifting of the Lower Face, Submental, and Neck Treatment Areas
This study evaluates the safety and effectiveness of the UltraClear® 2,910 nm fractional ablative fiber laser for improving skin laxity and tissue lifting in the lower face, submental, and neck areas.
- Trial name
- UC 29-2026 (NCT07759817)
- Testing
- 2910 nm fiber laser (UltraClear®)
- Where
- 2 sites in United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- FA Corporation
Diabetes Mellitus, Hyperglycemia
Durban Diabetes Study:A Study of the Epidemiology of Diabetes Mellitus in Urban South Africans of African Descent (DDS)
Type 2 diabetes (T2D) is an emerging epidemic in sub-Saharan Africa, with an estimated prevalence of 6%. With around seven million cases of T2D in 2000, it is anticipated that over 18 million Africans will have the disease by…
- Conditions
- Diabetes Mellitus, Hyperglycemia, Hereditary Diseases, Glucose Intolerance
- Trial name
- DDS (NCT02416440)
- Testing
- blood sample
- Where
- South Africa
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- University of KwaZulu
Hereditary Hemochromatosis, Hyperferritinemia
Quality and Biologic Characteristics of Red Blood Concentrates Obtained From Individuals With Elevated Ferritin.
Iron overload in hereditary hemochromatosis (HH) is treated by phlebotomy. It is unclear, if individuals with hyperferritinemia due to hereditary hemochromatosis or to secondary causes are suitable as blood donors.
- Trial name
- NCT05742035
- Testing
- Venipuncture
- Where
- 2 sites in Switzerland
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Interregionale Blutspende SRK
Friedreich Ataxia
TCA Cycle in the Dentate in Friedreich's Ataxia
OBJECTIVE: To measure the tricarboxylic acid (TCA) cycle rate in the dentate nucleus in a group of control subjects and subjects with Friedreich's Ataxia (FRDA).
- Trial name
- NCT03122925
- Testing
- MR
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Dilated Cardiomyopathy
Pathophysiology of Dilated Cardiomyopathy
This will be a cross-sectional, observational study. Null hypothesis: There is no difference in the amount of extracellular volume (ECV or scarring) in the hearts of patients with heart failure as compared to control subjects.
- Trial name
- NCT02001961
- Where
- United Kingdom
- Volunteers
- healthy volunteers welcome
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Healthy Volunteers
A Trial to Investigate Teprotumumab (High-concentration Formulation) Subcutaneous Administration in Healthy Adult Non-Japanese and Japanese Participants
The primary objective of this trial are to assess the pharmacokinetics (PK) of a single subcutaneous (SC) administration of teprotumumab high-concentration formula (HCF) in healthy adult non-Japanese and Japanese participants and…
- Trial name
- NCT06674941
- Testing
- Teprotumumab
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Amgen
Autosomal Recessive Cerebellar Ataxia
Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia
RADIAL is an algorithm which has been developed following a review of the literature on 67 autosomal recessive cerebellar ataxias (ARCA) and personal clinical experience.
- Trial name
- RADIAL-VALID (NCT04261127)
- Testing
- Genetic diagnosis (PMDA panel), Use of RADIAL algorithm
- Where
- 8 sites in France
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Lynch Syndrome, Polyposis Syndrome, Hereditary Mixed, 1
PSYLIVED: the Psychological Impacts of Living With an Inherited Colorectal Cancer Predisposition Syndrome
Why? PSYLIVED is a qualitative study that aims to understand the psychological experience of individuals living with inherited colorectal cancer.
- Conditions
- Lynch Syndrome, Polyposis Syndrome, Hereditary Mixed, 1, Polyposis Syndrome, Hereditary Mixed, 2
- Trial name
- PSYLIVED (NCT06447961)
- Where
- United Kingdom
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- London North West Healthcare NHS Trust
Dermatitis, Atopic
Intervention Study to Evaluate a Probiotic in Mild Atopic Dermatitis Young Patients
The aim of the study is to evaluate the beneficial effect of a probiotic preparation with an antiinflammatory and modulating activity on immunological processes, with positive results on different inflammatory and atopic…
- Trial name
- NCT02585986
- Testing
- Probiotic
- Where
- Spain
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Biopolis S.L.
Primary Ciliary Dyskinesia
A Longitudinal, Observational Study of Primary Ciliary Dyskinesia in Adults
The goal of this observational study is to characterize clinical measures and biomarkers of airway disease in adults with primary ciliary dyskinesia (PCD) and in a group of healthy volunteers (HV) to establish normative values.
- Trial name
- NCT05685186
- Testing
- Spirometry, Multiple Breath Washout (MBW), Mucociliary Clearance (MCC)
- Where
- United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- ReCode Therapeutics
Cerebral Palsy (CP)
Go For It: to Improve Levels of Daily Physical Activity and to Reduce the Sedentary Life Style of Adolescents With CP
Long hours of daily sitting and lack of Physical Activity (PA) are risk factors for morbidity and mortality. People with movement disabilities, including adolescents with Cerebral Palsy (CP) tend to lead a sedentary life styl and…
- Trial name
- NCT02978469
- Testing
- Life style changing: reducing sedentary behavior
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Assaf-Harofeh Medical Center
Rheumatic Heart Disease, Mitral Stenosis
Genetic Susceptibility to Rheumatic Heart Disease in the Pacific Region
The purpose of this study is to investigate whether there are genetic differences between patients with rheumatic heart disease and members of the general population.
- Trial name
- NCT02188862
- Where
- 3 sites in Fiji, New Caledonia and 1 more
- Volunteers
- 2,372 people, healthy volunteers welcome
- Sponsor
- University of Oxford
Autism Spectrum Disorder, Attention Deficit/Hyperactivity Disorder
Evaluating the Validity of a Genetic Risk Assessment Tool in Identifying Autism Spectrum Disorder
There are three purposes to this study. The first purpose is to evaluate the value of a genetic test in determining risk for autism spectrum disorder.
- Conditions
- Autism Spectrum Disorder, Attention Deficit/Hyperactivity Disorder, Developmental Delay
- Trial name
- NCT01452061
- Where
- United States
- Volunteers
- 456 people, healthy volunteers welcome
- Sponsor
- Thomas W. Frazier, Ph.D
Acute Pancreatitis
Assessment of the Different Etiological and Susceptibility Markers in Patients With Pancreatitis: Investigating IG4, Cytomegalovirus, Coxsackie- Virus, Genetic Polymorphism of Vitamin D Receptor Gene
Acute pancreatitis (AP) is a multifactorial disease. AP represents a significant number of hospital admissions. Most of the patients are admitted in an acute setting.
- Trial name
- NCT03830073
- Testing
- Measurement of VDR genetic polymorphism
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Assiut University
Overweight and Obesity, Chronic Disease
Influence of Genetic and Physiological in Weight Loss
The study focuses on the influence of polymorphism in the FTO genes rs9939609 and PPARᵧ Pro12Ala, oxidative stress and systemic inflammation on changes in body composition and rest metabolism induced by HIIT and continuous…
- Trial name
- NCT03568773
- Testing
- High-intensity interval training, Aerobic exercise moderate intensity, Control Group
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- Federal University of Paraíba
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.