Clinical trials: Genetic Association Studies
Hemophilia A, Hemophilia B
Socialization of Adult Men With Congenital Hemophilia A or B
The goal of this pilot study is to understand the socialization of adult men with hemophilia living in the United States and their quality of life in order to improve comprehensive care for persons with congenital bleeding…
- Trial name
- PWBCD (NCT01510418)
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Dana-Farber Cancer Institute
Neurodegenerative Disease, Hereditary, Mitochondrial Diseases
Natural History Study of SLC25A46 Mutation-related Mitochondriopathy
The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the solute carrier family 25…
- Conditions
- Neurodegenerative Disease, Hereditary, Mitochondrial Diseases, Optic Atrophy
- Trial name
- NCT04594590
- Testing
- Mutation analysis
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- State University of New York at Buffalo
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
The purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
- Conditions
- Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies
- Trial name
- NCT02231710
- Testing
- BPX-501 and Rimiducid
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Bellicum Pharmaceuticals
Neurodegenerative Disease, Hereditary, Mitochondrial Diseases
Natural History Study of FDXR Mutation-related Mitochondriopathy
The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the ferredoxin reductase gene.
- Conditions
- Neurodegenerative Disease, Hereditary, Mitochondrial Diseases, Optic Atrophy
- Trial name
- NCT04580979
- Testing
- Mutation analysis
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- State University of New York at Buffalo
Neurodegenerative Disorders
Development of IPS from Donated Somatic Cells of Patients with Neurological Diseases
Human fibroblasts and possibly other human somatic cells may be reprogrammed into induced pluripotent stem (iPS) cells by the forced expression of transcription factors (1-5).
- Trial name
- NCT00874783
- Where
- Israel
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Nephrocalcinosis, Renal Calculi
Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis
Kidney stones are very common. They affect 3-5% of the population in the United States. Many people are hospitalized for the treatment of kidney stones and some may die.
- Conditions
- Nephrocalcinosis, Renal Calculi, Hypercalciuria, Hyperparathyroidism
- Trial name
- NCT00169806
- Testing
- videotape for mapping of renal anatomy and papillary biopsy
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- Indiana Kidney Stone Institute
Advanced Solid Tumors
Study to Test How Well Patients With Advanced Solid Tumors Respond to Treatment With the Elimusertib in Combination With Pembrolizumab, to Find the Optimal Dose for Patients, How the Drug is Tolerated and the Way the Body Absorbs, Distributes and Discharges the Drug
The purpose of the study is to test how well patients with advanced solid tumors respond to treatment with elimusertib (BAY1895344) in combination with pembrolizumab.
- Trial name
- NCT04095273
- Testing
- Elimusertib (BAY1895344), Pembrolizumab (Keytruda®)
- Where
- 16 sites in United States, Germany and 3 more
- Volunteers
- 56 people
- Sponsor
- Bayer
Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia
Natural History Study of Patients with HPDL Mutations
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
- Conditions
- Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease
- Trial name
- NCT05848271
- Testing
- Patient Registry, Dry blood spots sampling
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of California, San Diego
PFIC - Progressive Familial Intrahepatic Cholestasis
A Study to Assess the Genetic Variations in Bile Flow Disorders: Linking Progressive Familial Intrahepatic Cholestasis (PFIC)-Related Genes to Symptoms in Adults With Recurrent Cholestasis in Spain
Progressive Familial Intrahepatic Cholestasis (PFIC) is a group of inherited conditions that affect how bile moves in the liver, which can lead to serious liver problems.
- Trial name
- REGENIC (NCT07191704)
- Where
- 10 sites in Spain
- Volunteers
- 150 people
- Sponsor
- Ipsen
Lung Diseases, Asthma
Optimal Approach for Analysis of Case-Control Genetic Association Studies
The purpose of this study is to examine the effectiveness of approaches to correct for the effects of population stratification on case-control genetic association studies.
- Trial name
- GALA 1 (NCT00241709)
- Where
- United States
- Volunteers
- 800 people
- Sponsor
- University of California, San Francisco
Geographic Atrophy, Stargardt Disease
Phase 1 Study of C.001 in Retinal Degeneration
This is a first-in-human Phase 1 study evaluating the safety and tolerability of C.001 in patients with retinal diseases involving degeneration of the retinal pigment epithelium.
- Conditions
- Geographic Atrophy, Stargardt Disease, RPE-mediated Maculopathy, Age Related Macular Degeneration
- Trial name
- NCT07594236
- Testing
- Injection
- Where
- 3 sites in United States
- Volunteers
- 15 people
- Sponsor
- Cellio Therapeutics Inc
Attention Deficit Hyperactivity Disorder
Endophenotype, Molecular Genetic Study on Attention-Deficit/Hyperactivity Disorder
The ultimate goals of this study are to identify patterns of familial aggregation with regards to categorical and dimensional approaches of ADHD and neuropsychological measures, to validate the phenotypes and endophenotypes that…
- Trial name
- NCT00529906
- Where
- Taiwan
- Volunteers
- 200 people
- Sponsor
- National Taiwan University Hospital
RETT Syndrome With Proven MECP2 Mutation, Rett Syndrome
Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome
The FENRTT2 study will investigate the efficacy and safety of a medicinal cannabis plant extract with extremely low THC (delta-9-tetrahydrocannabinol), NTI164, on Rett syndrome (RTT) in a crossover design.
- Trial name
- TRANSCEND (NCT07257978)
- Testing
- NTI164
- Where
- Australia
- Volunteers
- 40 people
- Sponsor
- Fenix Innovation Group
Vitamin D Deficiency
Vitamin D Intervention Trial in Healthy Chinese, Phase II
This is a double-blind, randomized, placebo-controlled trial. Based on inclusion and exclusion criteria, 400 eligible volunteers, who were 20-45 years, with 25-hydroxyvitamin D between 12.5-50 nmol/L and BMI between 18.5-28…
- Trial name
- NCT01998763
- Testing
- Vitamin D3
- Where
- China
- Volunteers
- 448 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Sciences
Non-alcoholic Fatty Liver Disease, Cholesterol Ester Storage Disease
Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical Study
Non-alcoholic fatty liver disease (NAFLD) is a world-wide problem with a global prevalence estimated at 1.5 billion people. It is characterised by significant diversity and phenotypic heterogeneity.
- Trial name
- NCT01791452
- Where
- Israel
- Sponsor
- Assy Nimer
Adult Acute Myeloid Leukemia, Secondary Acute Myeloid Leukemia
Geriatric Assessment & Genetic Profiling to Personalize Therapy in Older Adults With Acute Myeloid Leukemia
Acute myeloid leukemia (AML) is among the most common hematologic malignancies in adults and accounts for approximately 10,000 deaths in the United States every year. AML is commonly diagnosed in sixth or seventh decades of life.
- Conditions
- Adult Acute Myeloid Leukemia, Secondary Acute Myeloid Leukemia, Therapy-Related Acute Myeloid Leukemia
- Trial name
- NCT03226418
- Testing
- Cytarabine, Decitabine, Idarubicin
- Where
- United States
- Volunteers
- 75 people
- Sponsor
- University of Nebraska
Drug-Related Side Effects and Adverse Reactions
DOAC ADRs Retrospective Study
This retrospective study's objective is to evaluate if Cipherome's algorithm could have predicted the serious adverse drug reactions (ADRs) experienced by patients while on direct oral anti-coagulants (DOACs).
- Trial name
- NCT04247919
- Where
- United States
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- Cipherome, Inc.
Rett Syndrome
Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to <4 Years With Rett Syndrome
The primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome.
- Trial name
- ASPIRE (NCT07480564)
- Testing
- TSHA-102
- Where
- 3 sites in United States
- Volunteers
- 4 people
- Sponsor
- Taysha Gene Therapies, Inc.
Cardiovascular Disease, Hyperhomocysteinemia
Prevalence Of Hyperhomocysteinemia In Thai Chronic Kidney Disease (CKD) Patients
It is well recognized that patients with chronic kidney disease (CKD) have an increased risk for cardiovascular disease (CVD) and hyperhomocysteinemia appears to be a predictor of future CVD events.
- Trial name
- NCT01391416
- Volunteers
- 98 people, healthy volunteers welcome
- Sponsor
- Bangkok Metropolitan Administration Medical College and Vajira Hospital
Asthma, Atrial Fibrillation
The Living With a Long-Term Condition Study
Psychological distress (anxiety and depression) is common in and experienced differently by people living with long-term health conditions (LTCs).
- Conditions
- Asthma, Atrial Fibrillation, Cancer, Cerebrovascular Disorders
- Trial name
- LTC (NCT06072287)
- Testing
- Living with LTC Questionnaire
- Where
- United Kingdom
- Volunteers
- 600 people
- Sponsor
- King's College London