Clinical trials: Genetic Mutation
Intrahepatic Cholestasis of Pregnancy
ABCB4 Gene Mutations in Intrahepatic Cholestasis of Pregnancy and Controls
Mutations of the ATP binding cassette subfamily B member 4 (ABCB4) gene, a gene involved in a subtype of progressive familial intrahepatic cholestasis, have been reported in women suffering from intrahepatic cholestasis of…
- Trial name
- NCT00700232
- Where
- France
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- University Hospital, Tours
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
Prion Diseases
PROSPECT Registry for Individuals at Risk for Genetic Prion Disease
PROSPECT is a prospective observational registry and longitudinal natural history study of adults at risk for genetic prion disease.
- Trial name
- PROSPECT (NCT07732608)
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Brian Appleby
Moyamoya Disease, Intracranial Atherosclerotic Stroke
Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic Stroke
The aim of this study is to investigate the proportion of patients with moyamoya disease among the patients who were diagnosed as having intracranial atherosclerotic stroke.
- Conditions
- Moyamoya Disease, Intracranial Atherosclerotic Stroke, Intracranial Steno-occlusive Disease
- Trial name
- NCT02074111
- Where
- South Korea
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Metabolic Disease
Characterisation of the Human Carboxylesterase 1 (CES1) Mutations in Thailand
The aim of this study is to evaluate the conversion of OP to OC in individual X and the family member of individual X. The investigators hypothesize that one or more of the single nucleoprotein polymorphisms (SNPs) of the CES1…
- Trial name
- NCT01443806
- Testing
- Oseltamivir
- Where
- Thailand
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- University of Oxford
Stomach Neoplasms, Stomach Cancer
Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer
Background: Gastric cancers are cancers of the stomach. Hereditary ones are passed from parent to child. Researchers want to gather data about hereditary gastric cancers.
- Conditions
- Stomach Neoplasms, Stomach Cancer, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS), Hereditary Diffuse Gastric Cancer (HDGC)
- Trial name
- NCT03030404
- Where
- United States
- Volunteers
- 733 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Creutzfeldt-Jakob Disease (CJD)
A Natural History Study of Preclinical Genetic Creutzfeldt-Jakob Disease (CJD)
Creutzfeldt-Jakob Disease (CJD) is the most common prion disease in humans causing a rapidly progressive neurological decline and dementia and is invariably fatal.
- Trial name
- NHS_CJD (NCT05746715)
- Where
- Israel
- Volunteers
- 126 people, healthy volunteers welcome
- Sponsor
- Tel-Aviv Sourasky Medical Center
Urea Cycle Disorders
Study in Healthy Subjects, Patients With Urea Cycle Disorders (UCD) and Carriers of UCD Mutations to Evaluate Urea Cycle Function
This diagnostic study will be performed to investigate the performance of the urea cycle in healthy subjects, asymptomatic carriers of Urea Cycle Disorders (UCD) mutations and subjects with genetically proven urea cycle…
- Trial name
- NCT01549015
- Testing
- oral administration of Sodium [1,2-13C]-Acetate
- Where
- 4 sites in Germany
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Cytonet GmbH & Co. KG
Primary Ciliary Dyskinesia
Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
The purpose of this study is to measure mucociliary clearance (MCC) in groups of subjects with the disease Primary Ciliary Dyskinesia (PCD) caused by mutations in different genes, and compare to healthy subjects.
- Trial name
- NCT04901715
- Testing
- Albuterol, Technetium99m - Sulfur Colloid (Tc99m-SC)
- Where
- United States
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
PTEN, ASD
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
The purpose of this study is to determine cross-sectional and longitudinal medical, behavioral, and cognitive differences between PTEN ASD and other groups, as well as to identify cognitive, neural systems, and molecular…
- Conditions
- PTEN, ASD, Autism, Macrocephaly
- Trial name
- NCT02461446
- Where
- 5 sites in United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Glaucoma, Healthy
Cause of Pigment Dispersion Syndrome
The purpose of this study is to learn how pigment is released from the iris (the colored part of the eye) in patients with pigment dispersion syndrome.
- Conditions
- Glaucoma, Healthy, Pigment Dispersion Syndrome
- Trial name
- NCT00005919
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
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, cognitive and clinical efficacy of investigational products in participants with an Alzheimer's disease-causing mutation by determining if treatment with…
- Conditions
- Alzheimers Disease, Dementia, Alzheimers Disease, Familial
- Trial name
- DIAN-TU (NCT06424236)
- Testing
- Gantenerumab
- Where
- 17 sites in United States, Australia and 4 more
- Volunteers
- 73 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst
The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics
The long-term goal of our PIC is to develop effective strategies that can be applied clinically at the point-of-care to prevent, intercept, or detect PDAC at an early stage, thereby reducing PDAC burden and saving lives.
- Conditions
- Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst, Chronic Pancreatitis, Fatty Pancreas
- Trial name
- NCT05692596
- Testing
- Data collection
- Where
- United States
- Volunteers
- 317 people, healthy volunteers welcome
- Sponsor
- H. Lee Moffitt Cancer Center and Research Institute
Lynch Syndrome, Li Fraumeni Syndrome
Video Capsule Examination in Patients With Lynch Syndrome
Surveillance for colorectal cancer (CRC) in patients predisposed to develop CRC during their lifetime has been impacted by access to colonoscopy suites and endoscopy specialists in the past couple of years.
- Conditions
- Lynch Syndrome, Li Fraumeni Syndrome, PTEN Hamartoma Syndrome, FAP
- Trial name
- PILLCAM (NCT06712095)
- Testing
- Video capsule investigation
- Where
- United Kingdom
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
Taybi Linder Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I and III
Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. These genes are named U12 genes, and these introns, minor or U12 introns.
- Conditions
- Taybi Linder Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I and III, Roifman Syndrome, Lowry Wood Syndrome
- Trial name
- ATAC (NCT06111950)
- Testing
- Blood samples, Skin biopsies, Fetal samples
- Where
- 6 sites in France
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Atopic Dermatitis
The Role of Filaggrin and FADS Genes on the Concentrations of PUFA Towards Its Effect on Atopic Dermatitis in Infants
The incidence of atopic dermatitis has increased dramatically in this years. Atopic dermatitis occurs due to complex interactions between genetic and environmental factors.
- Trial name
- FLG-FADSgen (NCT02401178)
- Where
- Indonesia
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Universitas Indonesia
Injuries, Genetic Change
Candidate Gene Association Study With Injury in Elite Male Youth Football Players
Understanding how candidate genes, previously associated with injury susceptibility, influence the incidence of muscle, bone, ligament, and tendon injuries across the development pathway of elite footballers may provide valuable…
- Trial name
- NCT04952662
- Testing
- Genetic variants
- Where
- 2 sites in United Kingdom
- Volunteers
- 123 people, healthy volunteers welcome
- Sponsor
- St Mary's University College
Genetic Diseases, Nonsense Mutations
Safety, Tolerability, Pharmacokinetics of ELX-02 in Healthy Adult Volunteers
This is the first study in humans of ELX-02, an advanced synthetic aminoglycoside optimized as a translational read-through drug (TRID) for the treatment of genetic conditions caused by nonsense. mutations.
- Trial name
- NCT02807961
- Testing
- ELX-02
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Eloxx Pharmaceuticals, Inc.
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
Breast Cancer
One-stage Breast Reconstruction Using Dermal Matrix/Implant Versus Two-stage Expander/Implant Procedure
Currently the two-stage tissue expander/implant (TE/I) technique is the standard breast reconstructive option for breast cancer patients selected for immediate, skin-sparing mastectomy.
- Trial name
- AllodermRCT (NCT00956384)
- Testing
- One-stage dermal matrix/implant procedure, Two-stage tissue expander/implant procedure
- Where
- 4 sites in Canada
- Volunteers
- 198 people, healthy volunteers welcome
- Sponsor
- University Health Network, Toronto