Clinical trials: Mutation
Lipid Disorder
Genetic Origin of Lipid Disorders
Several lipid disorders are without known genetic origin. The scope of this project is to sequence genes superior involved in lipid and carbohydrate metabolism in patients with severe lipid disorders.
- Trial name
- NCT00277121
- Where
- Norway
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Oslo
Acute Myeloid Leukemia
Functional Role of RUNX1 Mutations in the Etiology of Acute Myeloid Leukemia (AML)
The purpose of this study is to elucidate the role of RUNX1 in Acute Myeloid Leukemia (AML), in particular, the transcriptional regulation of genes by mutated forms of this protein.
- Trial name
- NCT01329471
- Where
- Israel
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Hillel Yaffe Medical Center
Parkinson Disease, LRRK2
LRRK2, GBA and Other Genetic Biomarkers in Eastern European (Ashkenazi) Jews With and Without Parkinson's Disease
Single site observational study focused on elucidating the genes and biochemical pathways involved in causing Parkinson disease.
- Conditions
- Parkinson Disease, LRRK2, GBA Gene Mutation
- Trial name
- BioPD (NCT04668898)
- Where
- United States
- Volunteers
- 203 people, healthy volunteers welcome
- Sponsor
- Icahn School of Medicine at Mount Sinai
Alzheimer's Disease
Dominantly Inherited Alzheimer Network (DIAN)
The purpose of this study is to identify potential biomarkers that may predict the development of Alzheimer's disease in people who carry an Alzheimer's mutation.
- Trial name
- DIAN (NCT00869817)
- Where
- 26 sites in United States, Argentina and 11 more
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Prostate Cancer, Genetic Predisposition to Disease
Prophylactic Prostatectomy for Prostate Cancer (PPPC)
Prostate cancer affects 1-in-8 people assigned male at birth in the UK and kills almost 12,000 annually. Half the cases occur due to genetic factors.
- Conditions
- Prostate Cancer, Genetic Predisposition to Disease, BRCA Mutation
- Trial name
- PPPC (NCT06470685)
- Testing
- Qualitative Research Interviews
- Where
- United Kingdom
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
Advanced Non-small Cell Lung Cancer, EGFR Mutation
A Study to Learn About How BAY2927088 Affects the Level of Dabigatran or Rosuvastatin in the Blood When These Drugs Are Taken Together in Healthy Participants
Researchers are looking for a better way to treat people who have advanced non-small cell lung cancer (NSCLC) with specific genetic changes called epidermal growth factor receptor (EGFR) and human epidermal growth factor receptor…
- Conditions
- Advanced Non-small Cell Lung Cancer, EGFR Mutation, HER2 Mutation, Healthy Volunteers
- Trial name
- NCT06329895
- Testing
- BAY2927088, Dabigatran etexilate, Rosuvastatin
- Where
- United Kingdom
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Bayer
Lamin A/C Gene Mutation, Dilated Cardiomyopathy, Familial
The Deep Phenotype of Lamin A/C Cardiomyopathy
This study seeks to discover clinically useful tests to improve the diagnosis of a rare and serious heart muscle disease caused by mutations in a gene called 'Lamin'.
- Trial name
- NCT03860454
- Where
- 6 sites in United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University College, London
Mutation, Point
Elucidating the Molecular and Biochemical Basis of the Human AhR-mutation Disease
In a previous study, we have identified a consanguineous family from Northern Israel with three children affected by idiopathic infantile nystagmus (IIN) and foveal hypoplasia, which follow an autosomal recessive mode of…
- Trial name
- NCT03566745
- Testing
- Blood for protein activity
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Hillel Yaffe Medical Center
MELAS Syndrome, Mitochondrial Respiratory Chain Deficiencies
Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers
The purpose of this First In Human study is to investigate the safety and tolerability of KL1333 after a single oral dose and to investigate the pharmacokinetic characteristics of KL1333 after a single oral dose.
- Trial name
- NCT03056209
- Testing
- KL1333 25 mg, KL1333 50 mg, KL1333 100 mg
- Where
- South Korea
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Yungjin Pharm. Co., Ltd.
Inherited Retinal Degeneration Associated With RPGR Mutations, Inherited Retinal Degeneration Associated With Biallelic RPE65 Mutations
Monitoring and Early Detection of Treatable Inherited RETinal Disease in Children and Adolescents
The goals of this observational study are to develop and train artificial intelligence (AI) algorithms using multimodal imaging to identify patients with inherited retinal degeneration (IRD) caused by Retinal Pigment Epithelium…
- Trial name
- MEDIRET (NCT07901907)
- Where
- 3 sites in United States, Germany and 1 more
- Volunteers
- 4,887 people, healthy volunteers welcome
- Sponsor
- University College, London
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
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
Frontotemporal Lobar Degeneration (FTLD), Frontotemporal Dementia (FTD)
Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations
The study will investigate the ability of a new PET tracer, 18F-AV-1451, to detect depositions of a protein, called tau, in the brains of people with a mutation in the tau gene that causes deposition of the protein, and in people…
- Conditions
- Frontotemporal Lobar Degeneration (FTLD), Frontotemporal Dementia (FTD), Tauopathies
- Trial name
- NCT02676843
- Testing
- 18F-AV-1451
- Where
- United States
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Columbia University
Nevi
Study to Test Genetic Alterations Among Different Dermoscopic Types of Melanocytic Nevi.
This project is a multicenter study in which we will investigate a dual concept of nevogenesis. Study location is the Department of Dermatology at the Medical University of Graz in collaboration with centers in Austria (Vienna)…
- Trial name
- NCT00422448
- Testing
- To test the frequency of BRAF and NRAS mutations among nevi
- Where
- Austria
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Medical University of Graz
Parkinson's Disease
Clinical, Molecular and Metabolic Characteristics of Parkinson's Disease (PD) Patients With Parkin Mutation
Parkinson's disease is a frequent neurodegenerative disorder. Genetic forms of the disease have been recently identified. The monogenic form due to parkin mutation is responsible for many familial cases and sporadic forms.
- Trial name
- NCT00169364
- Testing
- positron emission tomography
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Groupe Hospitalier Pitie-Salpetriere
Somatic Mutation
Exploring the Landscape of Somatic Mutations in Human Tissue
Every cell in the human body contains a blueprint of the body called the genome. Throughout life, the genome can become damaged resulting in errors (mutations) that can change the way cells behave and may result in diseases such…
- Trial name
- NCT06585800
- Testing
- sample collection
- Where
- United Kingdom
- Volunteers
- 1,800 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties.
- Conditions
- Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 6
- Trial name
- NCT01060371
- Testing
- Genetic Testing, Blood Collection, Magnetic Resonance Imaging (MRI) Scan
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,400 people, healthy volunteers welcome
- Sponsor
- Lauren Moore
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
Nephronophthisis, NPH1
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).
- Conditions
- Nephronophthisis, NPH1, Autosomal, Recessive
- Trial name
- NPH1 (NCT06648044)
- Testing
- Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie
- Where
- France
- Volunteers
- 310 people, healthy volunteers welcome
- Sponsor
- Imagine Institute
Cancer of Unknown Primary, Bone Cancer Metastatic
Tislelizumab Combined With Chemotherapy in the Treatment of Bone Metastases of Unknown Primary
Through scientific and rigorous design, implementation, follow-up and statistics, the sponsor aims to explore the clinical efficacy and safety of Tislelizumab combined with chemotherapy (platinum + paclitaxel) in the treatment of…
- Conditions
- Cancer of Unknown Primary, Bone Cancer Metastatic, Tislelizumab, Gene Mutation-Related Cancer
- Trial name
- NCT05241132
- Testing
- Tislelizumab plus chemotherapy
- Where
- China
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Wei Xu