Clinical trials: Genetics
Alpha 1 Antitrypsin Deficiency
A Study of AIR-001 in Adults With Alpha-1 Antitrypsin Deficiency (AATD)
This is a Phase 1, open-label, single ascending dose (SAD) and multiple dose (MD) study of AIR-001 in participants with alpha-1 antitrypsin deficiency (AATD) due to PiZZ genotype.
- Trial name
- RepAIR1 (NCT07431112)
- Testing
- AIR-001 SAD dose level 1, AIR-001 SAD dose level 2, AIR-001 SAD dose level 3
- Where
- 13 sites in Australia, Georgia and 7 more
- Volunteers
- 54 people
- Sponsor
- AIRNA Corporation
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
Achondroplasia
Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With Achondroplasia
This is a multicenter, multinational, randomized, active-controlled, operationally seamless Phase 2/3 study of BMN 333 in treatment-naïve pediatric participants with achondroplasia (ACH).
- Trial name
- ASPEN (NCT07441876)
- Testing
- BMN 333, Vosoritide Injection [Voxzogo]
- Where
- 28 sites in United States, Australia and 7 more
- Volunteers
- 160 people
- Sponsor
- BioMarin Pharmaceutical
Atopic Dermatitis
A Study to Learn About the Study Medicine Called Tilrekimig in People With Moderate-to Severe Eczema
The purpose of this study is to find out how well tilrekimig works, how safe it is, and how it affects the body in adults and adolescents with moderate to severe atopic dermatitis (eczema).
- Trial name
- Tilrek (NCT07783425)
- Testing
- Tilrekimig, Dupilumab
- Where
- 32 sites in United States, Japan
- Volunteers
- 1,375 people
- Sponsor
- Pfizer
Pancreatic Ductal Adenocarcinoma (PDAC), Family History of Pancreas Cancer
Reach and Engagement of GENetic Education, Risk Assessment, and TEsting Feasibility Trial
This study will test a remote approach to help people who may be at higher risk for pancreatic cancer learn about and decide whether to get genetic testing and a blood test that looks for signs of several cancers (MCED testing).
- Conditions
- Pancreatic Ductal Adenocarcinoma (PDAC), Family History of Pancreas Cancer, Genetic Testing, Multi-cancer Early Detection
- Trial name
- REGENERATE (NCT07787156)
- Testing
- Telephone education session, Online educational materials
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- Brigham and Women's Hospital
Neurodevelopmental Disorders, Intellectual Disability
Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases
LEOPARD is a multicenter study aimed at improving the genetic diagnosis of patients with neurodevelopmental disorders (NDDs) of unknown etiology, particularly those with moderate-to-severe intellectual disability.
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Autism Spectrum Disorder, Genetic Diseases, Inborn
- Trial name
- LEOPARD (NCT07884227)
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Istituto Giannina Gaslini
Genetic Testing, Breast Cancer
Video Education With Result Dependent dIsclosure
The overall study objective of this trial study is to identify and evaluate strategies to improve the accessibility of the video education with result dependent disclosure (VERDI) model, increasingly utilized as a pre-genetic…
- Conditions
- Genetic Testing, Breast Cancer, Ovarian Cancer, Pancreatic Cancer
- Trial name
- VERDI (NCT05225428)
- Testing
- Video Education, Genetic Counseling
- Where
- United States
- Volunteers
- 1,334 people
- Sponsor
- Dana-Farber Cancer Institute
Dilated Cardiomyopathy (DCM), Cardiovascular Diseases
BAG3-DCM Natural History Study
The goal of this international observational study is to learn about the natural history of Dilated Cardiomyopathy (DCM) arising from pathogenic BAG3 variants in adult patients ≥18 years of age.
- Conditions
- Dilated Cardiomyopathy (DCM), Cardiovascular Diseases, Heart Diseases, Genetic Diseases
- Trial name
- NCT07486752
- Volunteers
- 30 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID)
Evaluation of Patients With Immune Function Abnormalities
This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation.
- Conditions
- Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD), Graft Versus Host Disease (cGvHD)
- Trial name
- NCT00128973
- Where
- United States
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Genetic Eye Disease
Genetics of Inherited Eye Disease
Background: Research has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes.
- Trial name
- NCT02471287
- Where
- United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Harboring of Unexpected Genetic Variant
Reverse Phenotyping Core
Background: Genes tell a person's body how to grow and work. All people have variations in their genes. Some of these cause differences that show up in a person's traits or their health, others do not.
- Trial name
- NCT03632239
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Neurofibromatosis 1, Noonan Syndrome
Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial
Background: RASopathies are a group of genetic diseases that affect a child s development. They cause physical, cognitive, and behavioral symptoms. Caring for a child with a RASopathy can be stressful.
- Conditions
- Neurofibromatosis 1, Noonan Syndrome, Legius Syndrome, Cardiofaciocutaneous Syndrome
- Trial name
- NCT05361811
- Testing
- Waitlist, ACT Intervention
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Epidermolysis Bullosa Simplex, Ichthyosis
A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory Genodermatoses
The goal of this clinical trial is to learn about deucravacitinib treatment in adults with inflammatory epidermal genodermatoses . The main question it aims to answer are: describe efficacity and safety of this treatment.
- Conditions
- Epidermolysis Bullosa Simplex, Ichthyosis, Genodermatosis, Inflammatory Congenital Ichthyoses
- Trial name
- GENEPID (NCT06136403)
- Testing
- deucravacitinib
- Where
- 2 sites in France
- Volunteers
- 8 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Rare Genetic Disease
Exome and Genome Sequencing of DNA Samples, as Required by Specific Research Projects and the Diagnostic Needs of the Gaslini Institute, to Be Performed Within the Framework of the "Joint Genomic Lab" Established Between IGG and IIT
The study involves two centers, only one of which recruits clinical cases. It is funded by the two participating centers according to their respective areas of expertise, in particular through research projects that will make use…
- Trial name
- JL-seq (NCT07877688)
- Where
- Italy
- Volunteers
- 1,950 people
- Sponsor
- Istituto Giannina Gaslini
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
Parkinson Disease, Prodromal Stage
Slow-SPEED: Slowing Parkinson's Early Through Exercise Dosage
The goal of this clinical trial is two-fold. First to investigate the feasibility of whether a remotely administered smartphone app can increase the volume and intensity of physical activity in daily life in individuals with a…
- Conditions
- Parkinson Disease, Prodromal Stage, Neurodegenerative Diseases, Basal Ganglia Diseases
- Trial name
- Slow-SPEED (NCT06993142)
- Testing
- Increase of physical activity volume and intensity with the use of a motivational smartphone application
- Where
- 2 sites in United States, Netherlands
- Volunteers
- 600 people
- Sponsor
- Radboud University Medical Center
Heart Failure With Reduced Ejection Fraction
Mechanistic Clinical Trial Comparing the Pharmacokinetics/Pharmacodynamics of Metoprolol in Heart Failure With Reduced Ejection Fraction Patients With Low vs. High Polygenic Score
The purpose of this trial is to better understand how the beta-blocker metoprolol works in people with Heart Failure with Reduced Ejection Fraction (HFrEF) according to participants genetics.
- Trial name
- NCT07490067
- Testing
- Metoprolol Succinate, Beta-Blocker Polygenic Score, Illumina Infinium Global Diversity Array with Enhanced Pharmacogenomics (PGx)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- University of Michigan
Atopic Dermatitis
A Study to Learn About the Study Medicine Called Tilrekimig in People With Moderate-to-Severe Eczema
The purpose of this study is to find out how well tilrekimig works, how safe it is, and how it affects the body when used together with medicated creams or ointments in adults and adolescents with moderate to severe atopic…
- Trial name
- NCT07765888
- Testing
- Tilrekimig
- Where
- 21 sites in United States, Japan
- Volunteers
- 375 people
- Sponsor
- Pfizer
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
XPhePiccosMR is a prospective, single-arm, open label, observational study that aims to evaluate the acceptability and tolerability of XPhe Piccos, a slow-release, phenylalanine-free protein substitute in the form of tiny…
- Conditions
- Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn, Brain Disorder, Metabolic, Brain Diseases
- Trial name
- XPhePiccosMR (NCT07802366)
- Testing
- Slow release, phenylalanine-free protein substitute tablets
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Pancreatic Ductal Adenocarcinoma, Hereditary Diseases
Pancreatic Cancer Screening in a Population at High Risk
Pancreatic cancer is one of the diseases with the worst prognosis, which is mainly due to the initial asymptomatic prognosis. Unfortunately, the incidence of this disease in the Czech Republic is still increasing.
- Conditions
- Pancreatic Ductal Adenocarcinoma, Hereditary Diseases, Pancreatitis, Chronic
- Trial name
- ScrePan (NCT06330441)
- Testing
- endoscopic ultrasonography, magnetic resonance, laboratory examination
- Where
- Czechia
- Volunteers
- 700 people
- Sponsor
- Masaryk Memorial Cancer Institute