Clinical trials: Genetic Variation
Congenital Sucrase-isomaltase Deficiency (CSID)
Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
Congenital sucrose-isomaltase deficiency (CSID) is a rare, genetic disease in which mutations in the sucrose-isomaltase (SI) gene cause digestion problems of sucrose resulting in diarrhea and abdominal pain.
- Trial name
- CSID GPS (NCT01914003)
- Where
- 19 sites in United States
- Volunteers
- 53 people
- Sponsor
- QOL Medical, LLC
Dilated Cardiomyopathy (DCM)
A Phase 1 AAV Gene Therapy Trial Evaluating Safety and Preliminary Efficacy of RP-A701 in Subjects With BAG3 Dilated Cardiomyopathy
This is a Phase 1, open-label, dose-escalation trial to characterize the safety, tolerability, and preliminary efficacy of RP-A701 following a single IV administration in high-risk adult patients with BAG3-DCM.
- Trial name
- NCT07137338
- Testing
- RP-A701 is a recombinant viral vector composed of an AAV serotype rh.74 (AAVrh.74) capsid encapsulating the transgene, BCL2-associated Athanogene 3 (BAG3)
- Where
- 3 sites in United States
- Volunteers
- 8 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Chronic Disease, Endocrine System Disease
Identify Genetic Variations That Affect The Ability of Patients To Metabolize Drugs Through Metabolic Pathways
This observation will look at patient care decisions of the primary healthcare provider utilizing the results of the DNA testing of patients' metabolic pathways using 2C19, 2C9, 2D6, 3A4, Factor II, Factor V and MTHFR and VKORC1.
- Conditions
- Chronic Disease, Endocrine System Disease, Cardiovascular Disease, Respiratory Tract Disease
- Trial name
- NCT02525887
- Testing
- Observation
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Bracane Company
Hemophilia B
Dose Confirmation Trial of AAV5-hFIXco-Padua
This is an open-label, single-dose, single-arm, multi-center trial, with a screening, a treatment + post-treatment follow-up phase, and a long-term follow-up phase.
- Trial name
- NCT03489291
- Testing
- AAV5-hFIXco-Padua (AMT-061)
- Where
- 4 sites in United States
- Volunteers
- 3 people
- Sponsor
- CSL Behring
Fabry Disease
A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease
An Open-label Study to Evaluate the Safety and Pharmacokinetics of Migalastat HCl in Subjects with Fabry Disease and Amenable GLA Variants and Severe Renal Impairment (SRI) or End Stage Renal Disease (ESRD)
- Trial name
- NCT04020055
- Testing
- migalastat HCl 150 mg
- Where
- 12 sites in United States, Australia and 4 more
- Volunteers
- 14 people
- Sponsor
- Amicus Therapeutics
Pain, Chronic Pain
Observational Study Linking Genetic Variants With Clinical Outcomes in Pain Management
The purpose of this study is to (a) evaluate the treatment approaches and changes in treatment regimens utilized by clinicians when genetic testing is performed in the clinic; and (b) create a patient data registry to identify…
- Trial name
- TROJAN (NCT02480075)
- Testing
- Observational
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- Proove Bioscience, Inc.
Osteogenesis Imperfecta (OI)
Osteogenesis Imperfecta Trial of AGA2115 for ADUlts With COL1A1 and/or COL1A2 GeNetic Variations (IDUN)
This study will determine the effect of treatment of AGA2115 in adults with Type I, III, or IV osteogenesis imperfecta versus placebo.
- Trial name
- IDUN (NCT07062588)
- Testing
- AGA2115
- Where
- 26 sites in United States, Argentina and 6 more
- Volunteers
- 80 people
- Sponsor
- Angitia Incorporated Limited
Arrhythmogenic Cardiomyopathy, PKP2-ACM
Long-term Follow-up Study of Gene Therapy for Arrhythmogenic Cardiomyopathy Due to a Plakophilin-2 Pathogenic Variant
The primary objective of this Phase 1/2 long-term follow-up (LTFU) study is to assess the long-term safety and tolerability of LX2020 for the treatment of arrhythmogenic cardiomyopathy (ACM) due to a plakophilin-2 gene (PKP2)…
- Conditions
- Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC
- Trial name
- GRIT-PKP2 (NCT07050160)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Lexeo Therapeutics
Obesity, Metabolic Syndrome
Association of Genes to Resistance to Weight Loss in Obese Patients
The overall goal of this study is to determine whether variations in the perilipin, and several other, genes would be a useful tool for physicians who are caring for morbidly obese patients to guide therapy.
- Conditions
- Obesity, Metabolic Syndrome, Dyslipidemia
- Trial name
- NCT00858221
- Where
- United States
- Volunteers
- 824 people
- Sponsor
- Interleukin Genetics, Inc.
Ocular Motility Disorders, Strabismus
Clinical Validation of AI-Based Quantitative Eye Movement Analysis From Smartphone 9-Gaze Videos (Glandy EOM)
This prospective, multicenter, multinational observational study evaluates the clinical validity of an AI-based quantitative eye movement analysis system (Glandy EOM) that analyzes smartphone-recorded 9-gaze videos.
- Conditions
- Ocular Motility Disorders, Strabismus, Extraocular Muscle Dysfunction, Thyroid Eye Disease
- Trial name
- GLANDY-EOM-VAL (NCT07623837)
- Testing
- Glandy EOM (AI-based quantitative eye movement analysis software)
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- THYROSCOPE INC.
Pain, Chronic Pain
A Study of the Impact of Genetic Testing on Clinical Decision Making and Patient Care
The purpose of this study is to evaluate the impact of genetic testing on healthcare decisions and patient outcomes for patients suffering from pain, cardiovascular problems, Arthritis, Type II Diabetes, and/or Mental Health…
- Conditions
- Pain, Chronic Pain, Mental Disorders, Cardiovascular Diseases
- Trial name
- REVOLUTION (NCT02487888)
- Testing
- Unblinded to Genetic Testing Results, Blinded to Genetic Testing Results
- Where
- 31 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Proove Bioscience, Inc.
SH2B1 Deficiency Obesity, Obesity Associated With PCSK1 Mutation (rs6232 Variant)
An Open-Label Study of Diazoxide Choline in Patients With Genetic Obesities
This is a phase 2 open-label, one-arm, clinical study to evaluate the efficacy and safety of DCCR (diazoxide choline) extended-release tablets over 1 year of treatment, in patients with genetic obesities.
- Conditions
- SH2B1 Deficiency Obesity, Obesity Associated With PCSK1 Mutation (rs6232 Variant), SIM1 Deficiency Obesity
- Trial name
- NCT05532020
- Testing
- DCCR (diazoxide choline) extended-release tablets
- Sponsor
- Soleno Therapeutics, Inc.
Stent Thrombosis, Ischemic Stroke
Association Between Genetic Variant Scores and P2Y12 Inhibitor Effects
The goal of this study is to predict and prevent adverse drug events by investigating the impact of genetic variants, demographics, and environmental factors in subjects status post myocardial infarction and percutaneous coronary…
- Conditions
- Stent Thrombosis, Ischemic Stroke, Myocardial Infarction, Acute Coronary Syndrome
- Trial name
- CARES1 (NCT04580602)
- Where
- South Korea
- Volunteers
- 200 people
- Sponsor
- Cipherome, Inc.
Drug-Related Side Effects and Adverse Reactions, Iatrogenic Disorder
Association Between Genetic Variant Scores and DOACs (DARES2)
The study's objective is to evaluate the predictive accuracy of Cipherome's algorithm in predicting and preventing serious adverse drug reactions (ADRs) experienced by patients while on direct oral anti-coagulants (DOACs).
- Trial name
- NCT04597593
- Where
- South Korea
- Volunteers
- 200 people
- Sponsor
- Cipherome, Inc.
Hemophilia A
Phase 1 Safety, Pharmacokinetics And Pharmacodynamics Study Of Recombinant Factor VIIa Variant (813d) In Adult Subjects With Hemophilia
This study hypothesizes that the study drug, PF-05280602 (at the selected doses) will be safe to administer to subjects with severe Hemophilia A or B with or without inhibitors and will demonstrate evidence of hemostatic…
- Trial name
- NCT01439971
- Testing
- PF-05280602
- Where
- 23 sites in United States, Belgium and 6 more
- Volunteers
- 29 people
- Sponsor
- Catalyst Biosciences
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.
Hyperuricemia, Gout
Thorough QT (TQT) Study to Evaluate the Effect of LC350189 on Cardiac Repolarization in Healthy Male and Female Subjects
This is a Phase 1, single-center, randomized, partially double-blind, placebo- and positive controlled, 4-way crossover study to evaluate the effect of a therapeutic and a supratherapeutic dose of LC350189 on the QTcF in healthy…
- Conditions
- Hyperuricemia, Gout, Qt Interval, Variation in
- Trial name
- NCT04966325
- Testing
- LC350189 200mg, Moxifloxacin 400mg, LC350189 600mg
- Where
- United States
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- LG Chem
PIK3CA Mutations, Advanced Solid Tumors, Adult
A Study of Mutant Selective-Inhibitor (CGT6297), in Patients With Advanced Solid Tumors
This is a Phase 1, two-part, open-label, nonrandomized, dose-escalation and signal-seeking study of CGT6297, evaluating the safety, tolerability, PK, pharmacodynamic (what the drug does to the body), and antitumor activity of…
- Conditions
- PIK3CA Mutations, Advanced Solid Tumors, Adult, Endometrial Cancer, HR Positive/HER-2 Negative Breast Cancer
- Trial name
- NCT07383506
- Testing
- CGT6297
- Where
- 12 sites in United States
- Volunteers
- 90 people
- Sponsor
- Cogent Biosciences, Inc.
Hemophilia A, Hemophilia B
Study of FVIIa Variant BAY86-6150 (B0189) in Subjects With Moderate or Severe Hemophilia Types A or B With or Without Inhibitors
This is the first in humans study of BAY86-6150 (B0189) in non-bleeding subjects with moderate or severe congenital hemophilia A or B with or without inhibitors.
- Trial name
- MATCHBOX (NCT01921855)
- Testing
- BAY Factor VII (BAY86-6150)
- Where
- 4 sites in Poland, South Africa and 1 more
- Volunteers
- 16 people
- Sponsor
- Bayer
Arrhythmogenic Cardiomyopathy, PKP2-ACM
A Study to Assess Real-world Patient Characteristics and Clinical Course for Symptomatic Patients With PKP2-ACM
An observational study to assess real-world patient characteristics and clinical course of disease in participants with PKP2-ACM.
- Conditions
- Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC
- Trial name
- SNAPSHOT- PKP2 (NCT06976606)
- Where
- 6 sites in United States
- Volunteers
- 40 people
- Sponsor
- Lexeo Therapeutics