Phase 1 N=9 Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin (AAT) Deficiency
Alpha 1-Antitrypsin Deficiency
Primary: Adverse Events Possibly, Probably or Definitely Related to Study Drug — 2; 2; 3; 2 participants
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
N/A N=39 ABCA3 Gene and RDS in Late Preterm and Term Infants
Respiratory Distress Syndrome, Newborn
Primary: Mortality — 5; 3; 5 Participants
Phase 2 N=174 Phase 2B Study of PTC124 (Ataluren) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)
Duchenne Muscular Dystrophy · Becker Muscular Dystrophy
Primary: Change From Baseline in 6MWD at Week 48 — -41.81; -12.86; -42.56 meters — p=0.4756
N/A N=38 Genetically Determined Response to Atenolol in Patients With Persistent Atrial Fibrillation
Atrial Fibrillation
Primary: Change in Pre- and Post-atenolol Ventricular Rate Response After 5 Minutes of Exercise — -10; -13 beats per minute
Phase 2 N=7 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations
Frontotemporal Lobar Degeneration (FTLD) · Frontotemporal Dementia (FTD) · Tauopathies
Primary: SUVR of 18F-AV-1451 — 1.07; 1.26; 1.03; 1.34 standardized uptake value ratio (SUVR)
Phase 4 N=31 Genetics and HIV-1 Protease Inhibitors
HIV
Primary: Day 7 Atazanavir Oral Clearance — .25; .18 L/h/kg
Phase 2 N=11 Gene Therapy for Achromatopsia (CNGA3)
Achromatopsia
Primary: Number of Participants Meeting the Primary Outcome Defined as Any of the Below Events Occurring During the 6 Weeks Following Administration, at Least Possibly Related to…
Phase 3 N=14 Assess Incidence of Deep Vein Thrombosis(DVT)Following Administration of Recombinant Human Antithrombin (rhAT) to Hereditary Antithrombin(AT) Deficient Patients in High Risk Situations.
Antithrombin Deficiency, Congenital
Primary: Incidence of Thromboembolic Events Acute Deep Venous Thrombosis (DVT) and/or Thromboembolic Events Other Than Acute Deep Vein Thrombosis (DVT). — 1 participants
Phase 3 N=238 Study of Ataluren (PTC124™) in Cystic Fibrosis
Cystic Fibrosis
Primary: Percentage of Predicted Function (Percent-Predicted) of Forced Expiratory Volume in One Second (FEV1) at Baseline — 62.092; 60.232 percentage of predicted FEV1 — p=0.3264
Phase 1 N=105 CYP19A1 (Cytochrome P450 Family 19 Subfamily A Member 1) Gene and Pharmacogenetics of Response to Testosterone Therapy
Hypogonadism
Primary: Percent Change in Bone Mineral Density (BMD) According to rs700518 Polymorphism in the CYP19A1 Gene — 3.69; 4.13; 3.82; 0.38 percent change — p=<0.05
Phase 3 N=18 Recombinant Human Antithrombin (rhAT) in Patients With Hereditary Antithrombin Deficiency Undergoing Surgery or Delivery
Antithrombin III Deficiency
Primary: Incidence of Thromboembolic Events Acute Deep Venous Thrombosis (DVT) and/or Thromboembolic Events Other Than Acute Deep Venous Thrombosis (DVT) — 0 Participants
Phase 2 N=15 Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome
Epilepsy
Primary: Percent Change From Baseline in 28-Day Convulsive Seizure Frequency During Ataluren Treatment Period — 723.17 percent change
Phase 4 N=34 Pharmacogenomics of Antiplatelet Response
Atherosclerosis
Primary: Differential Gene Expression — 77.1 FPKM for HBG1 Gene — p=<0.000005
Phase 3 N=94 Study of Ataluren for Previously Treated Participants With Nonsense Mutation Duchenne/Becker Muscular Dystrophy (nmDBMD) in Europe, Israel, Australia, and Canada
Duchenne Muscular Dystrophy · Becker Muscular Dystrophy · Dystrophinopathy
Primary: Number of Participants With Treatment Emergent Adverse Events (TEAEs) — 91; 31; 26 Participants
Phase 3 N=230 Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
Muscular Dystrophy, Duchenne · Muscular Dystrophies · Muscular Disorders, Atrophic
Primary: Change From Baseline in 6MWD at Week 48 — -60.67; -47.69 meters — p=0.213
Phase 4 N=23 Genetic Basis for Variation in the Renal Elimination of Metformin
Other Conditions That May Be A Focus of Clinical Attention
Primary: Renal Clearance of Metformin — 614; 441 mL/min
Phase 2 N=23 Gene Therapy for Achromatopsia (CNGB3)
Achromatopsia
Primary: Number of Participants Meeting the Primary Outcome Defined as Any of the Below Events Occurring During the 6 Weeks Following Administration, at Least Possibly Related to…
Phase 3 N=191 Extension Study of Ataluren (PTC124) in Cystic Fibrosis
Cystic Fibrosis
Primary: Percentage of Participants With Treatment-Emergent Adverse Events (TEAEs) — 100; 97.9; 14.7; 18.8 percent of participants
Phase 2 N=30 Atomoxetine Treatment for Cognitive Impairment in Parkinson's Disease (ATM-Cog)
Parkinson's Disease · Cognitive Impairment
Primary: The Global Statistical Test Combined Information on Change From Baseline on a Battery of Standardized Executive Function Tests — 99.5; 117.5 summed-ranks — p=0.25
Phase 2 N=50 Clopidogrel Pharmacogenomics Project
Disease Susceptibility
Primary: Clopidogrel Resistance, Defined by P2Y12 Reaction Units (PRU)Value >230 — 30; 18 Number of Patients with PRU>230 — p==0.02
N/A N=117 Alpha-1 Carrier Genomics Study
Alpha-1 Antitrypsin Deficiency · Emphysema · COPD
Primary: Number of Participants With Abnormal Sequences in SERPINA1 Genes — 6; 0 participants — p=0.054
Phase 4 N=5,276 Tailored Antiplatelet Therapy Following PCI
Coronary Artery Disease · Acute Coronary Syndrome · Stenosis
Primary: Occurrence of the a Major Adverse Cardiovascular Event in Subjects Identified as CPY2C19 LOF Carriers by TaqMan. — 35; 54 Participants
N/A N=157 Defective Atypical Protein Kinase C (PKC) Activation in Diabetes and Metabolic Syndrome
Diabetes Mellitus, Type 2
Primary: Alterations in PKC-zeta mRNA in Vastus Lateralis Skeletal Muscles — 1.76; 3.58; 2.14; 2.22 arbitrary units/ng rRNA — p=.001
N/A N=80 Genetic Determinants of the Coronary Microvascular Obstruction in PCI
Myocardial Infarction · No-Reflow Phenomenon
Primary: Hospital Mortality Rate — 6; 2 Participants
Phase 2 N=13 Gene Therapy For Children With Variant Late Infantile Neuronal Ceroid Lipofuscinosis 6 (vLINCL6) Disease
Variant Late-Infantile Neuronal Ceroid Lipofuscinosis
Primary: Incidence And Severity Of Treatment-Emergent Adverse Events (TEAEs) and Serious Adverse Events (SAEs) — 13; 5; 7; 7 Participants
Phase 2 N=30 Everolimus for Cancer With TSC1 or TSC2 Mutation
TSC1 · TSC2 · Tuberous Sclerosis Complex
Primary: Objective Response Rate — 2 Participants
N/A N=5 Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia
Homozygous Familial Hypercholesterolemia
Primary: Number of LDLR Gene Mutations — 7 gene mutations
Phase 3 N=33 Single-Dose Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1
SMA
Primary: Number of Participants Who Achieve Independent Sitting for at Least 10 Seconds — 14 Participants
N/A N=35 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
Atopic Dermatitis · Ichthyosis Vulgaris
Primary: Heterozygous for Filaggrin (FLG) Null Mutations — 1; 4 participants
N/A N=6 Atropine in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Catecholaminergic Polymorphic Ventricular Tachycardia
Primary: Number of Ventricular Ectopic Beats Recorded During Exercise (and Recovery) — 46; 0 number of ventricular beats