Clinical trials: Genetic
Severe Hemophilia A
Safety and Pharmacokinetics of Subcutaneous Injection of OCTA101 in Adult Patients With Severe Hemophilia A
This Phase 1/2 study will be a dose escalation study in adults in 5 cohorts (named cohorts 1, 2, 3, 5 and 6), with the main purpose to assess the safety of subcutaneous injection of OCTA101 (a human-cl rhFVIII and recombinant…
- Trial name
- NCT04046848
- Testing
- OCTA101
- Where
- Bulgaria
- Volunteers
- 36 people
- Sponsor
- Octapharma
Alpha1-Antitrypsin Deficiency
A Study to Evaluate Safety, Tolerability and Pharmacokinetics of Two Different Doses of Alpha1-Proteinase Inhibitor Subcutaneous (Human) 15% in Participants With Alpha1-Antitrypsin Deficiency
The purpose of this study is to evaluate the safety and tolerability of 72 milligrams per kilogram (mg/kg) and 180 mg/kg Alpha-1 15%, administered as a single-dose subcutaneous (SC) infusion and subsequently as weekly SC…
- Trial name
- NCT04722887
- Testing
- Alpha-1 15%, Liquid Alpha1-Proteinase Inhibitor (Human)
- Where
- 5 sites in United States
- Volunteers
- 17 people
- Sponsor
- Grifols Therapeutics LLC
Seemingly Healthy, Genetic Predisposition to Disease
Return of Genomic Results and Aggregate Penetrance in Population-Based Cohorts
The PopSeq Project is a prospective cohort study that will develop and implement a genomic return of results (gRoR) process in the Framingham Heart Study (FHS) and Jackson Heart Study (JHS) cohorts and explore associated medical…
- Trial name
- PopSeq (NCT04196374)
- Testing
- Genomic Sequencing
- Where
- 2 sites in United States
- Volunteers
- 7,603 people
- Sponsor
- Brigham and Women's Hospital
Parkinson, Parkinson Disease
Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers
Every year, approximately 9,000 Parkinson disease (PD) patients undergo deep brain stimulator (DBS) placement into the subthalamic nucleus (STN-DBS).
- Conditions
- Parkinson, Parkinson Disease, Genetic Predisposition, GBA Gene Mutation
- Trial name
- NCT03234478
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Rutgers, The State University of New Jersey
Genetic Predisposition
Care Plans for Cancer Predisposition
Develop and evaluate acceptability, feasibility, and preliminary efficacy of digital care plan and accompanying text message reminders for children and adolescents with a known Cancer Predisposition Syndromes (CPS).
- Trial name
- NCT05736497
- Testing
- Digital Care Plans
- Where
- United States
- Volunteers
- 177 people
- Sponsor
- Children's Hospital of Philadelphia
Genetic Disease, Cancer
Educational Video for Genetic Testing
Develop and evaluate the acceptability, feasibility, and preliminary efficacy of an informational video on paired tumor/normal testing for children and adolescents with a new diagnosis of cancer, tumors or other diagnosis.
- Trial name
- NCT05472714
- Testing
- Educational Video
- Where
- United States
- Volunteers
- 359 people
- Sponsor
- Children's Hospital of Philadelphia
Environmental and Genetic Factors on Lung Function
ONES Grant: CXCL10/CXCR3 Regulation of Ozone-Induced Epithelial Permeability
The purpose of this research study to understand how environmental and genetic factors may be involved in lung function. Study participants will undergo a 1-day screening that includes a blood draw and breathing testing, return…
- Trial name
- NCT03599206
- Testing
- Ozone, Filtered Air
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Robert Tighe, MD
Glycogen Storage Disease Type IA, Von Gierke's Disease (GSD Type Ia)
Study of Long-Term Safety and Efficacy on Gene Therapy in Glycogen Storage Disease Type Ia
The primary objective of this study is to determine the long-term safety of DTX401 following a single intravenous (IV) dose in adults with GSDIa.
- Trial name
- NCT03970278
- Testing
- No intervention
- Where
- 6 sites in United States, Canada and 2 more
- Volunteers
- 12 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Muscular Dystrophy, Duchenne, Muscular Dystrophies
Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
This study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.
- Conditions
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- NCT03179631
- Testing
- Ataluren
- Where
- 64 sites in United States, Australia and 16 more
- Volunteers
- 360 people
- Sponsor
- PTC Therapeutics
Optic, Atrophy, Hereditary, Leber
Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation
The goal of this clinical trial is to assess the effectiveness of GS010, a gene therapy, in improving the visual outcome in participants with Leber Hereditary Optic Neuropathy (LHON) due to the G11778A ND4 mitochondrial mutation…
- Trial name
- RESCUE (NCT02652767)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 39 people
- Sponsor
- GenSight Biologics
Optic, Atrophy, Hereditary, Leber
Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation (REVERSE)
The goal of this clinical trial is to assess the effectiveness of GS010, a gene therapy, in improving the visual outcome in participants with Leber Hereditary Optic Neuropathy (LHON) due to the G11778A ND4 mitochondrial mutation…
- Trial name
- REVERSE (NCT02652780)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 37 people
- Sponsor
- GenSight Biologics
Leber Hereditary Optic Neuropathy
RESCUE and REVERSE Long-term Follow-up
The goal of this clinical trial is to assess the long-term safety and efficacy of GS010, a gene therapy, and assess the quality of life in subjects with LHON due to the G11778A ND4 mitochondrial mutation and who were treated in…
- Trial name
- RESTORE (NCT03406104)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 62 people
- Sponsor
- GenSight Biologics
Refractory Aggressive B-cell Lymphomas, Refractory B-Cell Non-Hodgkin Lymphoma
Acalabrutinib + Liso-Cel In R/R Aggressive B-Cell Lymphomas
This research is being done to assess the effectiveness and safety of acalabrutinib combined with lisocabtagene maraleucel (liso-cel) for people with relapsed/refractory aggressive B-cell lymphoma.
- Conditions
- Refractory Aggressive B-cell Lymphomas, Refractory B-Cell Non-Hodgkin Lymphoma, Aggressive B-cell NHL, Diffuse Large B-cell Lymphoma (DLBCL)
- Trial name
- NCT05583149
- Testing
- ACALABRUTINIB, LISOCABTAGENE MARALEUCEL, Lymphodepleting chemotherapy
- Where
- 2 sites in United States
- Volunteers
- 28 people
- Sponsor
- Patrick C. Johnson, MD
Hemophilia A
Study to Evaluate the Efficacy and Safety of Valoctocogene Roxaparvovec, With Prophylactic Steroids in Hemophilia A
This Phase III clinical study will evaluate the safety and effectiveness of valoctocogene roxaparvovec in combination with prophylactic corticosteroids in patients with severe hemophilia A.
- Trial name
- GENEr8-3 (NCT04323098)
- Testing
- valoctocogene roxaparvovec
- Where
- 12 sites in United States, Australia and 2 more
- Volunteers
- 22 people
- Sponsor
- BioMarin Pharmaceutical
Age-Related Macular Degeneration, Genetic Testing
The Moran AMD Genetic Testing Assessment Study
The goals of this study are: To assess the impact of genetic testing for Age-related Macular Degeneration (AMD) on lifestyle behaviors as measured by systemic and ocular carotenoid status.
- Conditions
- Age-Related Macular Degeneration, Genetic Testing, Nutritional Biomarkers
- Trial name
- MAGENTA (NCT05265624)
- Testing
- Early disclosure of genetic testing results, Late disclosure of genetic testing results
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Paul S. Bernstein
Hemophilia A, Gene Therapy
Gene Therapy Study in Severe Hemophilia A Patients With Antibodies Against AAV5
This study is being conducted by BioMarin Pharmaceutical Inc. as an open label, single dose study to determine the safety of valoctocogene roxaparvovec (an Adenovirus-Associated Virus (AAV) based gene therapy vector) in severe…
- Conditions
- Hemophilia A, Gene Therapy, Clotting Disorders, Blood Disorder
- Trial name
- GENEr8-AAV5+ (NCT03520712)
- Testing
- Valoctocogene Roxaparvovec
- Where
- 9 sites in South Africa, South Korea and 2 more
- Volunteers
- 3 people
- Sponsor
- BioMarin Pharmaceutical
Dermatitis, Atopic, Dermatitis
Effect of Benralizumab in Atopic Dermatitis
Atopic Dermatitis (AD), also known as eczema, is a common skin disease characterized by itchy lesions. The prevalence of AD has increased over the past few decades, with 15-30% of children and 2-10%of adults being affected.
- Conditions
- Dermatitis, Atopic, Dermatitis, Eczema, Skin Diseases
- Trial name
- NCT03563066
- Testing
- Benralizumab
- Where
- Canada
- Volunteers
- 20 people
- Sponsor
- McMaster University
Pediatric: Genetic Syndrome
Genomic Medicine for Ill Neonates and Infants (The GEMINI Study)
The Genomic Medicine for Ill Neonates and Infants (The GEMINI Study) is a research study aimed at comparing the clinical and economic utility of performing rapid whole genomic sequencing versus a targeted genomic sequencing panel…
- Trial name
- GEMINI (NCT03890679)
- Testing
- rapid whole genomic sequencing (rWGS)
- Where
- 6 sites in United States
- Volunteers
- 400 people
- Sponsor
- Tufts Medical Center
Genetic Obesity
DAYBREAK: A Study of Setmelanotide in Participants With Specific Gene Variants in the Melanocortin-4 Receptor (MC4R) Pathway
The purpose of this study was to evaluate the safety and efficacy of once daily subcutaneous (SC) administration of setmelanotide in participants with obesity and specific gene variants in the MC4R pathway.
- Trial name
- NCT04963231
- Testing
- Setmelanotide
- Where
- 36 sites in United States, Canada and 6 more
- Volunteers
- 164 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
HIV/AIDS, Albuminuria
Optimal Management of HIV Infected Adults at Risk for Kidney Complications in Nigeria
In this study, the Investigators plan to determine the optimal means to prevent or slow the progression of kidney disease among genetically at-risk northern Nigerian HIV-infected adults.
- Conditions
- HIV/AIDS, Albuminuria, Kidney Diseases, Genetic Predisposition
- Trial name
- R3 (NCT03201939)
- Testing
- Lisinopril
- Where
- Nigeria
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University Medical Center