Clinical trials: Genetic Mutations
Polycythemia Vera (PV), Myelofibrosis (MF)
Study of ZE74-0282 for Patients With JAK2 V617F Positive Blood Cancers
This study will test an experimental drug called ZE74-0282 in people with certain blood disorders caused by a specific mutation called JAK2 V617F.
- Trial name
- NCT07529951
- Testing
- ZE74-0282
- Volunteers
- 60 people
- Sponsor
- Eilean Therapeutics
Congenital Myasthenic Syndrome
A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
Participants will attend up to 4 study visits to collect clinical assessments. The assessments will evaluate participants' symptoms and quality of life to understand disease activity in patients with CMS due to mutations in DOK7…
- Trial name
- NCT06078553
- Where
- 33 sites in United States, Austria and 10 more
- Volunteers
- 100 people
- Sponsor
- argenx
Fabry Disease
Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease
The primary objective of this study was to compare the effect of migalastat (123 milligrams [mg] of migalastat [equivalent to 150 mg of migalastat hydrochloride]) (migalastat) versus placebo on kidney globotriaosylceramide (GL-3).
- Trial name
- NCT00925301
- Testing
- migalastat hydrochloride
- Where
- 28 sites in United States, Argentina and 11 more
- Volunteers
- 67 people
- Sponsor
- Amicus Therapeutics
Non Small Cell Lung Cancer
Study of BEBT-109 in Subjects With Non-Small Cell Lung Cancer Carrying EGFR Exon 20 Insertion Mutations
This is a multicenter, open Phase II clinical study to evaluate the efficacy, safety, and pharmacokinetic characteristics of BEBT-109 combined with injectable pemetrexed disodium and carboplatin or cisplatin injection as…
- Trial name
- NCT06514027
- Testing
- BEBT-109 Capsules, Pemetrexed Disodium for Injection, Carboplatin Injection
- Where
- China
- Volunteers
- 30 people
- Sponsor
- BeBetter Med Inc
Non-Small Cell Lung Cancer, EGFR Exon 20 Insertion Mutation
Study of BEBT-109 in Subjects With EGFR Exon 20 Insertion Mutations Non-Small Cell Lung Cancer
This study is an open-label, multicenter Phase II trial, planning to enroll 200 subjects, using BEBT-109 capsules as monotherapy, aimed at evaluating the efficacy and safety of BEBT-109 capsules in subjects with Epidermal Growth…
- Trial name
- NCT06706713
- Testing
- BEBT-109 Capsule
- Where
- 2 sites in China
- Volunteers
- 200 people
- Sponsor
- BeBetter Med Inc
Myelofibrosis With High Molecular Risk Mutations
Phase III Study Investigating the Efficacy and Safety of Ruxolitinib in Early Myelofibrosis Patients With High Molecular Risk Mutations.
Myelofibrosis patients with high molecular risk mutations have an intrinsically aggressive disease with increased risk of leukemic transformation and reduced overall survival.
- Trial name
- ReTHINK (NCT02598297)
- Testing
- Ruxolitinib
- Where
- 110 sites in Australia, Austria and 23 more
- Volunteers
- 49 people
- Sponsor
- Novartis Pharmaceuticals
Mastocytosis
Masitinib in Patients With Mastocytosis With Handicap and Bearing the D816V Mutation
The objective is to compare efficacy and safety of AB1010 at 3 or 6 mg/kg/day in treatment of patients with mastocytosis with handicap and bearing activating point mutations in the phosphotransferase domain of c-Kit such as the…
- Trial name
- NCT01266369
- Testing
- masitinib
- Volunteers
- 21 people
- Sponsor
- AB Science
Cystic Fibrosis
A Study to Evaluate the Safety and Efficacy of Long-term Treatment With TEZ/IVA in CF Participants With an F508del CFTR Mutation
This study evaluates the long-term safety and tolerability of tezacaftor in combination with ivacaftor (TEZ/IVA) in participants with cystic fibrosis (CF) aged 6 years and older, homozygous or heterozygous for the F508del…
- Trial name
- NCT03537651
- Testing
- TEZ/IVA, IVA
- Where
- 55 sites in United States, Australia and 9 more
- Volunteers
- 130 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Arrhythmogenic Right Ventricular Cardiomyopathy
Open-label, Dose Escalation Study of Safety and Preliminary Efficacy of TN-401 in Adults With PKP2 Mutation-associated ARVC
This first-in-human study is designed to evaluate the safety, and preliminary efficacy (PD) of TN-401 gene therapy in adult patients with symptomatic PKP2 mutation-associated ARVC.
- Trial name
- RIDGE-1 (NCT06228924)
- Testing
- TN-401
- Where
- 7 sites in United States
- Volunteers
- 15 people
- Sponsor
- Tenaya Therapeutics
Metastatic Solid Tumors, Advanced Non-squamous Non-small-cell Lung Cancer
A First-in-human Study of BGB-53038, a Pan-KRAS Inhibitor, Alone or in Combinations in Participants With Advanced or Metastatic Solid Tumors With KRAS Mutations or Amplification
This is a first-in-human (FIH), open-label, multicenter, dose escalation and dose expansion study to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics, and preliminary antitumor activity of BGB-53038 as…
- Conditions
- Metastatic Solid Tumors, Advanced Non-squamous Non-small-cell Lung Cancer, Advanced Colorectal Cancer, Advanced Pancreatic Ductal Adenocarcinoma
- Trial name
- NCT06585488
- Testing
- BGB-53038, Tislelizumab, Cetuximab
- Where
- 17 sites in United States, Australia and 3 more
- Volunteers
- 47 people, healthy volunteers welcome
- Sponsor
- BeOne Medicines
Metastatic Non Small Cell Lung Cancer
Dacomitinib for Treatment of Patients in India With Metastatic Non Small Cell Lung Cancer With EGFR Activating Mutations
This is a Phase 4, open label, single arm, multi-center, prospective clinical trial of dacomitinib that will be performed in India.
- Trial name
- NCT04511533
- Testing
- Dacomitinib
- Where
- 15 sites in India
- Volunteers
- 101 people
- Sponsor
- Pfizer
Solid Tumor, Advanced Solid Tumor
A Phase 1 Study of MRTX0902 in Solid Tumors With Mutations in the KRAS MAPK Pathway
This is a Phase 1, open-label, multicenter, study evaluating the safety, tolerability, PK, PD, and anti-tumor activity of MRTX0902 alone and in combination with MRTX849 (adagrasib) in patients with advanced solid tumor malignancy…
- Conditions
- Solid Tumor, Advanced Solid Tumor, Non Small Cell Lung Cancer, Colo-rectal Cancer
- Trial name
- NCT05578092
- Testing
- MRTX0902, MRTX849
- Where
- 18 sites in United States, Puerto Rico
- Volunteers
- 64 people
- Sponsor
- Mirati Therapeutics Inc.
AMN, AMN Gene Mutation
Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia
The course of AMN-related disabilities over time is poorly or incompletely understood due to a limited number of patients and lack of treatments.
- Conditions
- AMN, AMN Gene Mutation, X-ALD
- Trial name
- CYGNET (NCT05008874)
- Testing
- Natural History Observation
- Where
- 6 sites in United States, Germany and 1 more
- Volunteers
- 65 people
- Sponsor
- SwanBio Therapeutics, Inc.
Cystic Fibrosis
Study of VX-809 Alone and in Combination With VX-770 in Cystic Fibrosis (CF) Patients Homozygous or Heterozygous for the F508del-CFTR Mutation
The purpose of this study is to evaluate of the safety, efficacy, pharmacokinetics (PK) and pharmacodynamic (PD) effects of lumacaftor (VX-809) alone and when coadministered with ivacaftor (VX-770) in participants with cystic…
- Trial name
- NCT01225211
- Testing
- Lumacaftor, Ivacaftor
- Where
- 55 sites in United States, Australia and 5 more
- Volunteers
- 312 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Monogenic Obesity
A Study Evaluating Mibavademab Treatment of Obesity Due to Leptin (LEP) Gene Mutations in Children, Adolescents and Adults
This study is researching an experimental drug called mibavademab. The study is focused on patients with a condition called monogenic obesity.
- Trial name
- NCT07220772
- Testing
- Mibavademab
- Where
- 3 sites in Germany, Turkey (Türkiye)
- Volunteers
- 4 people
- Sponsor
- Regeneron Pharmaceuticals
Cystic Fibrosis
Study Evaluating the Long-term Safety and Efficacy of VX-445 Combination Therapy
This study evaluated the long-term safety, efficacy, and pharmacodynamics of elexacaftor (ELX, VX-445) in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are…
- Trial name
- NCT04058366
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 84 sites in United States, Australia and 10 more
- Volunteers
- 251 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Duchenne Muscular Dystrophy
Phase 2a Extension Study of Ataluren (PTC124) in Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy (DMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function.
- Trial name
- NCT00759876
- Testing
- Ataluren
- Where
- 3 sites in United States
- Volunteers
- 36 people
- Sponsor
- PTC Therapeutics
Carcinoma, Non-Small-Cell Lung
ADAM-Afatinib Diarrhea Assessment and Management
This is a non-randomized, open label, two-cohort, multi-institutional study to evaluate the use of diarrheal management tools intended to facilitate timely intervention and treatment modifications due to afatinib…
- Trial name
- NCT01814553
- Testing
- afatinib, loperamide
- Where
- 12 sites in United States
- Volunteers
- 40 people
- Sponsor
- Boehringer Ingelheim
AML With Gene Mutations
Dose Escalation and Expansion Study to Evaluate the Safety, PK, PD and Efficacy of ZE46-0134 in Adults With FLT3 Mutated or Spliceosome Mutated Relapsed or Refractory Acute Myeloid Leukemia
This is a clinical study aiming to assess pharmacokinetics, pharmacodynamics and preliminary efficacy of ZE46-0134 in patients with FLT3 and spliceosome mutated Relapsed or Refractory Acute Myeloid Leukemia
- Trial name
- NCT06366789
- Testing
- ZE46-0134
- Where
- 23 sites in United States, Australia and 2 more
- Volunteers
- 150 people
- Sponsor
- Lomond Therapeutics Holdings, Inc.
HIV Infection
TMC125-C223: TMC125 in HIV-1 Infected Subjects
The purpose of this study is to investigate the ability of TMC125, a Non-Nucleoside Reverse Transcriptase Inhibitor (NNRTI), to lower the amount of virus in your blood when administered twice daily for 48 weeks.
- Trial name
- NCT00081978
- Testing
- TMC125
- Volunteers
- 211 people
- Sponsor
- Tibotec Pharmaceuticals, Ireland