Clinical trials: Genetic Change
MELAS, LHON
A Dose-escalating Clinical Trial With KH176
Mitochondrial Diseases are rare progressive, multi-system, often early fatal disorders affecting both children and adults. KH176 is a novel chemical entity currently under development for the treatment of inherited mitochondrial…
- Conditions
- MELAS, LHON, Leigh Syndrome, Mitochondrial Disease
- Trial name
- NCT02544217
- Testing
- KH176
- Where
- Belgium
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Khondrion BV
Sexual Dysfunction, Endothelial Dysfunction
Effects of Lifestyle-modification Induced Weight Loss on Sexual and Urinary Function, and Quality of Life in Obese Men
This study aims to evaluate the extent to which weight loss of 5-10% from baseline, induced by exercise and diet, improves metabolic and inflammatory profile, endothelial function, erectile function, sexual desire, lower urinary…
- Conditions
- Sexual Dysfunction, Endothelial Dysfunction, Quality of Life, Inflammation
- Trial name
- NCT01554735
- Testing
- Exercise and diet
- Where
- Singapore
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Changi General Hospital
Graves Disease, Graves Ophthalmopathy
Systemic Inflammation, Thyroid Autoimmunity and Neuroretinal Changes in Graves Disease
This retrospective observational study aims to evaluate the relationship between systemic inflammatory parameters, thyroid autoimmunity markers, and neuroretinal structures in patients with Graves disease.
- Trial name
- NCT07480720
- Where
- Turkey (Türkiye)
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Elazıg Fethi Sekin Sehir Hastanesi
Pseudohypoparathyroidism Type 1A, Albright Hereditary Osteodystrophy
Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1a
The investigators would like to learn more about the metabolic consequences of pseudohypoparathyroidism type 1a in children, adolescents and adults with this condition.
- Trial name
- NCT01398774
- Where
- United States
- Volunteers
- 519 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Factor V Leiden, Prothrombin G20210A
A Single Ascending Dose Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of CITY-FXI in Healthy Adults, Adults With FV Leiden or Prothrombin G20210A Mutation, and Adults With a History of Provoked Venous Thromboembolism
This is a first-in-human (FIH), single-center, randomized, double-blind, placebo-controlled, single ascending and multiple dose study evaluating the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of…
- Conditions
- Factor V Leiden, Prothrombin G20210A, Venous Thromboembolism (VTE)
- Trial name
- NCT07430397
- Testing
- CITY-FXI
- Where
- United Kingdom
- Volunteers
- 182 people, healthy volunteers welcome
- Sponsor
- City Therapeutics
Down Syndrome, Prenatal Stress
Amniotic Fluid Ischemia Modified Albumin as a Novel e Prenatal Diagnostic Marker for Down Syndrome
Down syndrome is the most common genetic disorder in the society that causes mental retardation. Today, screening tests (combined test, triple screening, ultrasonography and age) are performed for the diagnosis of down syndrome…
- Conditions
- Down Syndrome, Prenatal Stress, Cytokines
- Trial name
- NCT04293380
- Testing
- amniosyntesis
- Where
- Turkey (Türkiye)
- Volunteers
- 94 people, healthy volunteers welcome
- Sponsor
- Karadeniz Technical University
Panic Disorder
Genetic Abnormalities and Biological Changes of Panic Disorder Patients After Pharmacotherapy
We plan to examine genetic polymorphism of catechol-O-methyltransferase in panic disorder and neurobiological changes of panic disorder patients after 12 weeks of pharmacotherapy with paroxetine.
- Trial name
- NCT00515996
- Where
- South Korea
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Schizophrenia, Chinese Han People
Mutation Screening and Translocation Detection of DISC1 Gene in Schizophrenia
Several chromosomal loci obtained from genetic linkage studies have been reported of relating to schizophrenia. These areas include of 1q32-41, 6p24-21, 8p22-21, 15q13-14, and 22q11-12.
- Trial name
- NCT00155818
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Cardiovascular Diseases (CVD)
Healthy Living With Online suPport & Education for Cardiovascular Disease in the Primary Care Setting
This pragmatic four-arm (1:1:1:1) parallel cluster randomised controlled trial (cRCT) aims to evaluate the effectiveness of reducing the risk of cardiovascular disease (CVD) through three combinations of interventions for…
- Trial name
- HOPE-CVD-GP (NCT06099353)
- Testing
- Heart Age, Heart Age-HOPE-CVD App, Communication of Genetic Risk Score
- Where
- Singapore
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- Nanyang Technological University
Segmental Dysplastic Nevi
Genetic Identification (ID) of Segmental Dysplastic Nevi
The investigators' goal is to identify the mutation in the gene that is responsible for the development of segmental dysplastic nevi. To identify the gene the investigators may use a candidate gene approach (i.e.
- Trial name
- NCT00955578
- Testing
- Punch Biopsy
- Where
- Canada
- Volunteers
- healthy volunteers welcome
- Sponsor
- Nova Scotia Health Authority
Mitochondrial DNA Mutation, Endoscopy
Multimodal Imaging Based on Pathological and Genomic Characteristics
Mitochondrial DNA mutations in normal gastric tissue, early gastric cancer and advanced gastric cancer were identified by single cell sequencing, and the origin of gastric stem cells was traced and new molecular markers were…
- Trial name
- NCT05196243
- Testing
- Patients diagnosed as gastrointestinal mucosal lesions
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Affiliated Hospital to Academy of Military Medical Sciences
Atopic Dermatitis, Atopic Dermatitis Eczema
Characterizing Skin Microbiome Change in Atopic Dermatitis
Atopic dermatitis (AD), also known as eczema, is an inflammatory disease of the skin affecting a large proportion of the pediatric and adult patient population.
- Trial name
- NCT04800185
- Testing
- Crisaborole 2% Top Oint, Skin Microbiome Swabs
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of California, Irvine
Congenital Hypothyroidism
TG Gene Mutations and Congenital Hypothyroidism
The aim of this study was to identify mutations in the thyroglobulin gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.
- Trial name
- NCT00493103
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Genetic Screening, Adolescent
Engaging Adolescents in Decisions About Return of Genomic Research Results
Recent recommendations to return children's results for adult-onset conditions to parents anytime whole exome or genome sequencing is performed, as well as growing expectations to return research results to participants on a…
- Conditions
- Genetic Screening, Adolescent, Genetic Change, Shared Decision Making
- Trial name
- NCT04481061
- Testing
- Electronic Decision Tool
- Where
- 2 sites in United States
- Volunteers
- 787 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Charcot-Marie-Tooth Disease
Change in MUNIX in Patients With CMT1A Undergoing a Home Ankle Strengthening Program Versus Standard of Care
Here the investigators aim to show that a focused lower extremity resistance strength training program in patients with Charcot-Marie-Tooth disease (CMT) results in increased motor strength of ankle plantar- and dorsi-flexion.
- Trial name
- NCT03715283
- Testing
- Home Ankle Strengthing Program, Standard of Care
- Where
- United States
- Volunteers
- 19 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University Medical Center
Hypertension, Diet, Healthy
Improvement of Physical and Physiological Parameters Through the Use of a Mobile App
To investigate the health effects of a new mobile application (app) for prevention and personalized treatment in people with chronic cardiovascular pathologies associated with body composition.
- Conditions
- Hypertension, Diet, Healthy, Body Weight, Obesity
- Trial name
- NCT05093803
- Testing
- CONTROL GROUP, HEALTH APP GROUP
- Where
- Spain
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University of Alicante
MDC1A
LAMA2 Genetic Correction
Merosin-deficient congenital muscle dystrophy type 1a (MDC1a), or LAMA2 muscular dystrophy (LAMA2-MD) is a severe autosomal recessive form of muscular dystrophy that is caused by homozygous or compound heterozygous mutations in…
- Trial name
- NCT06582537
- Testing
- Participants sample collection
- Where
- Netherlands
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Maastricht University
MDS (Myelodysplastic Syndrome)
Luspatercept + Darbepoetin in MDS
This is a single arm open-label Phase II trial of luspatercept and darbepoetin alfa in non-mutated SF3B1 , lower-risk, RBC transfusion dependent MDS participants with an endogenous erythropoietin (EPO) level < 500 IU/L.
- Trial name
- DarbeLus (NCT07096297)
- Testing
- Luspatercept, Darbeopoetin
- Where
- 4 sites in United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Yale University
Retinal Dystrophies, Color Vision Defects
Natural History Study of Inherited Retinal Diseases
This prospective, observational investigation seeks to delineate the interplay between chromatic vision deficits and both functional visual outcomes and anatomical retinal biomarkers in individuals affected by Inherited Retinal…
- Conditions
- Retinal Dystrophies, Color Vision Defects, Vision Disorders, Macular Degeneration
- Trial name
- MojiLVCDT (NCT07085533)
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Augelux Therapeutics
Pleuropulmonary Blastoma, Sertoli-Leydig Cell Tumor
International PPB/DICER1 Registry
PPB has strong genetic implications, with a unique set of conditions in an individual or their family, occurring mostly in childhood and adolescence.
- Conditions
- Pleuropulmonary Blastoma, Sertoli-Leydig Cell Tumor, DICER1 Syndrome, Cystic Nephroma
- Trial name
- NCT03382158
- Where
- United States
- Volunteers
- 3,400 people, healthy volunteers welcome
- Sponsor
- Children's Hospitals and Clinics of Minnesota