Clinical trials: Genetic Association Studies
Homeostatic Iron Regulator Gene-related Hereditary Hemochromatosis
Efficacy and Safety of Vamifeport in Adult Participants With Homeostatic Iron Regulator Gene (HFE)-Related Hereditary Hemochromatosis
This is a phase 2, multicenter, randomized, placebo-controlled, double-blind, parallel-group, proof-of-concept study to assess vamifeport in adult participants with homeostatic iron regulator gene-related hereditary…
- Trial name
- NCT07332091
- Testing
- Vamifeport
- Where
- 100 sites in United States, Australia and 16 more
- Volunteers
- 84 people
- Sponsor
- CSL Behring
Tuberous Sclerosis Complex
Open-label Study of Adjunctive GNX Treatment in Children and Adults With TSC-related Epilepsy
This is a Phase 3, global, open-label extension (OLE) study of adjunctive GNX treatment in children and adults with TSC who previously participated in either Study 1042-TSC-3001 or Study 1042-TSC-2001
- Trial name
- NCT05604170
- Testing
- Ganaxolone
- Where
- 54 sites in United States, Australia and 8 more
- Volunteers
- 117 people
- Sponsor
- Marinus Pharmaceuticals
Amyloidosis, Hereditary, Transthyretin Amyloidosis
HELIOS-A: A Study of Vutrisiran (ALN-TTRSC02) in Patients With Hereditary Transthyretin Amyloidosis (hATTR Amyloidosis)
The purpose of this study is to evaluate the efficacy and safety of vutrisiran (ALN-TTRSC02) in participants with hereditary transthyretin amyloidosis (hATTR amyloidosis).
- Trial name
- NCT03759379
- Testing
- Patisiran, Vutrisiran
- Where
- 64 sites in United States, Argentina and 20 more
- Volunteers
- 164 people
- Sponsor
- Alnylam Pharmaceuticals
Major Depressive Disorder (MDD, Anxiety Disorder, Generalized
Serotonin Variants & Gut Microbiota in Mental Health
This observational pilot study investigates whether a broad panel of genetic variants relevant to the serotonin pathway (including serotonergic system, methylation cycle, intestinal barrier integrity, and inflammatory response…
- Conditions
- Major Depressive Disorder (MDD, Anxiety Disorder, Generalized, Stress Disorders, Post-Traumatic, Panic Disorder
- Trial name
- NCT07634458
- Testing
- SNP Genotyping and Gut Metagenomics
- Volunteers
- 30 people
- Sponsor
- Neurobiologix
Hemophilia A
Quality of Life Study of Helixate NexGen
The aim of this study is to describe Health Related Quality of Life (HRQoL) in adolescents and adults with Hemophilia A treated prophylactically or on-demand with Helixate NexGen.
- Trial name
- NCT01053715
- Where
- 31 sites in Austria, Belgium and 5 more
- Volunteers
- 78 people
- Sponsor
- CSL Behring
Priapism
A Study to Evaluate the Safety and Efficacy of Crizanlizumab in Sickle Cell Disease Related Priapism
The goal of the study was to evaluate the efficacy and safety of crizanlizumab in sickle cell disease (SCD) patients with priapism.
- Trial name
- SPARTAN (NCT03938454)
- Testing
- Crizanlizumab
- Where
- 13 sites in United States
- Volunteers
- 36 people
- Sponsor
- Novartis Pharmaceuticals
Drug-Related Side Effects and Adverse Reactions, Treatment Failure
DOAC ADRs Retrospective Study on Genetic Variations
The purpose of this study is to see if the participant's genetic profile and clinical factors (age, drug dose, etc.) affect drug outcomes (i.e.
- Trial name
- DARES1 (NCT04580589)
- Where
- United States
- Volunteers
- 210 people, healthy volunteers welcome
- Sponsor
- Cipherome, Inc.
Limb Girdle Muscular Dystrophy
A Gene Transfer Study to Evaluate the Safety, Tolerability and Efficacy of SRP-6004 in Ambulatory Participants With Limb Girdle Muscular Dystrophy, Type 2B/R2 (LGMD2B/R2, Dysferlin [DYSF] Related)
The primary purpose of this study is to evaluate the safety of SRP-6004 administered by intravenous (IV) infusion in ambulatory participants with LGMD2B/R2 (DYSF related).
- Trial name
- NCT05906251
- Testing
- SRP-6004
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Sarepta Therapeutics, Inc.
Gestational Diabetes, Pregnancy Complications
OneinSeven Gestational Diabetes Genetic and Socioeconomic Risk Study
The objective of the Gestational Diabetes Genetic Socioeconomic Risk Study is to generate genome wide association study data (GWAS) to calculate polygenic risk scores (PRS) for the development of gestational diabetes in pregnant…
- Conditions
- Gestational Diabetes, Pregnancy Complications, Pregnancy Related, Genetic Predisposition
- Trial name
- NCT04789473
- Testing
- Polygenic Risk Score Generation
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Prenome
LMNA-Related Dilated Cardiomyopathy
A Study With NVC-001 in Patients With LMNA-related Dilated Cardiomyopathy (SUNBEAM-LMNA)
This study is designed to evaluate the safety and tolerability of NVC-001 in adults with LMNA-related dilated cardiomyopathy (LMNA-DCM). The study will also assess exploratory measures of efficacy.
- Trial name
- NCT07606274
- Testing
- NVC-001 - Low Dose, NVC-001 - Intermediate Dose, NVC-001 - High Dose
- Where
- 8 sites in United States
- Volunteers
- 21 people
- Sponsor
- Nuevocor Pte. Ltd.
PIK3CA-Related Overgrowth Spectrum (PROS)/Proteus Syndrome
Study of Miransertib (MK-7075) in Participants With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC) (MK-7075-002)
This is an open label, Phase 1/2 study of oral miransertib (MK-7075) administered to participants at least 2 years of age with phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA)-related Overgrowth…
- Trial name
- MOSAIC (NCT03094832)
- Testing
- Miransertib
- Where
- 11 sites in United States, Australia and 2 more
- Volunteers
- 50 people
- Sponsor
- ArQule, Inc., a subsidiary of Merck Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc. (Rahway, NJ USA)
Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM), Amyloidosis
Cardiac Magnetic Resonance and Echocardiography Study With Acoramidis
The study aims to evaluate the effect of acoramidis on cardiac functional and structural improvement in participants with ATTR-CM.
- Conditions
- Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM), Amyloidosis, Amyloid Cardiomyopathy, Transthyretin Amyloidosis
- Trial name
- ASCEND-ATTR (NCT07695701)
- Testing
- Acoramidis (AG10) oral tablet
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy, Transthyretin-Related (ATTR) Familial Amyloid Cardiomyopathy
Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NTLA-2001 in Patients With Hereditary Transthyretin Amyloidosis With Polyneuropathy (ATTRv-PN) and Patients With Transthyretin Amyloidosis-Related Cardiomyopathy (ATTR-CM)
This study will be conducted to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of NTLA-2001 in participants with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) and…
- Conditions
- Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy, Transthyretin-Related (ATTR) Familial Amyloid Cardiomyopathy, Wild-Type Transthyretin Cardiac Amyloidosis
- Trial name
- NCT04601051
- Testing
- NTLA-2001
- Where
- 4 sites in France, New Zealand and 2 more
- Volunteers
- 72 people
- Sponsor
- Intellia Therapeutics
Ovarian Cancer
Tuvusertib Combined With Niraparib or Lartesertib in Participants With Epithelial Ovarian Cancer (DDRiver EOC 302)
The purpose of this study is to measure the effect and safety of treatment with tuvusertib combined with either niraparib or lartesertib in participants with epithelial ovarian cancer and to assess any differences between…
- Trial name
- NCT06433219
- Testing
- Tuvusertib (M1774), Niraparib, Lartesertib (M4076)
- Where
- 84 sites in United States, Australia and 11 more
- Volunteers
- 63 people
- Sponsor
- EMD Serono Research & Development Institute, Inc.
HSP, Hereditary Spastic Paraplegia
Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
Safety and Efficacy of AAV9/AP4B1 For Patients with AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1/2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration.
- Conditions
- HSP, Hereditary Spastic Paraplegia, Hereditary Spastic Paraparesis, Hereditary Spastic Paraplegia Type 50
- Trial name
- NCT06948019
- Testing
- BFB-101 (AAV9-CBh-AP4B1)
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- BlackfinBio Ltd
Hemophilia A
Health Related Quality of Life of Youth and Young Adults With Hemophilia A
The relevance of the study will be in establishing whether Health Related Quality of Life (HRQoL) measures obtained repeatedly during hemophilia care are sensitive to significant changes in health or personal circumstances…
- Trial name
- NCT01034904
- Where
- 2 sites in Canada
- Volunteers
- 48 people
- Sponsor
- CSL Behring
Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy
Efficacy and Safety of Acoramidis (AG10) in Subjects with Transthyretin Amyloid Polyneurophathy (ATTRibute-PN)
Phase 3 efficacy and safety of acoramidis in subjects with symptomatic Transthyretin Amyloid Polyneuropathy (ATTR-PN)
- Trial name
- NCT04882735
- Testing
- Acoramidis
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Locally Advanced or Metastatic Cancers, Metastatic Human Papillomavirus-Related Malignant Neoplasm
Study of TST005 in Patients With Locally Advanced or Metastatic Solid Tumors
This is an open label Phase 1, first-in-human (FIH) study of TST005, a bi-specific antibody consisting of a PD-L1 monoclonal antibody (mAb) and a transforming growth factor beta (TGF-β) trap in subjects with locally advanced or…
- Trial name
- NCT04958434
- Testing
- TST005
- Where
- 3 sites in United States
- Volunteers
- 19 people
- Sponsor
- Transcenta Therapeutics (Hangzhou) Co., Ltd.
Small Cell Lung Cancer
Pharmacogenomics ANDA SNP Clinical Study - Etoposide and Single Nucleotide Polymorphisms
Explore the relationship between drug target topoisomerase II gene single nucleotide polymorphisms and Etoposide (VP-16) therapeutic-effects in patients with small cell lung cancer, based on Oxford precisely sequencing drug…
- Trial name
- Drugs-SNPs (NCT01064466)
- Testing
- ETOPOSIDE - Usual, ETOPOSIDE - Study
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- Han Xu, M.D., Ph.D., FAPCR, Medical Director,, IRB Chair
Mitochondrial Diseases
A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease
A long-term extension study to assess the safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) in children with inherited mitochondrial diseases who previously enrolled into study…
- Trial name
- NCT02473445
- Testing
- Cysteamine Bitartrate
- Where
- 5 sites in United States
- Volunteers
- 22 people
- Sponsor
- Amgen