Clinical trials: Gene Mutations
Erythromelalgia
Carbamazapine for Inherited Erythromelalgia Patients With NaV1.7 Mutations
This research study is designed to investigate brain response using fMRI scan, and behavioral responses, to treatment with the drug carbamazepine (CBZ) in patients with the painful sodium channelopathy inherited Erythromelalgia…
- Trial name
- NCT02214615
- Testing
- Carbamazepine
- Where
- 2 sites in United States
- Volunteers
- 2 people
- Sponsor
- VA Connecticut Healthcare System
Adenoid Cystic Carcinoma
Compassionate Use of Brontictuzumab for Adenoid Cystic Carcinoma (ACC)
The goal of this study is to start treatment with the NOTCH1 inhibitor brontictuzumab in an attempt to control tumors and prolong survival.
- Trial name
- NCT02662608
- Testing
- Brontictuzumab
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- M.D. Anderson Cancer Center
Advanced Solid Tumor
Study of RP-3500, Camonsertib, in Advanced Solid Tumors
The primary purpose of this study is to define the maximum tolerated dose (MTD) and determine a recommended Phase 2 dose (RP2D) and schedule of orally-administered RP-3500 (camonsertib) alone or in combination with talazoparib, a…
- Trial name
- TRESR (NCT04497116)
- Testing
- RP-3500 (camonsertib), Talazoparib, Gemcitabine Injection
- Where
- 13 sites in United States, Canada and 2 more
- Volunteers
- 276 people
- Sponsor
- Repare Therapeutics
Sickle Cell Disease, Vaso-occlusive Pain Episode in Sickle Cell Disease
A Study to Assess the Safety and Efficacy of Inclacumab in Participants With Sickle Cell Disease Experiencing Vaso-occlusive Crises
This Phase 3 study will assess the safety and efficacy of inclacumab, a P-selectin inhibitor, in reducing the frequency of vaso-occlusive crises (VOCs) in approximately 240 adult and adolescent participants (≥ 12 years of age)…
- Conditions
- Sickle Cell Disease, Vaso-occlusive Pain Episode in Sickle Cell Disease, Vaso-occlusive Crisis
- Trial name
- NCT04935879
- Testing
- Inclacumab
- Where
- 58 sites in United States, Brazil and 10 more
- Volunteers
- 241 people
- Sponsor
- Pfizer
Breast Cancer
Olaparib as Adjuvant Treatment in Patients With Germline BRCA Mutated High Risk HER2 Negative Primary Breast Cancer
Olaparib treatment in patients with germline BRCA1/2 mutations and high risk HER2 negative primary breast cancer who have completed definitive local treatment and neoadjuvant or adjuvant chemotherapy
- Trial name
- OlympiA (NCT02032823)
- Testing
- Olaparib
- Where
- 698 sites in United States, Argentina and 22 more
- Volunteers
- 1,837 people
- Sponsor
- AstraZeneca
BRCA1 Gene Mutation, BRCA2 Gene Mutation
Pembrolizumab in Treating Participants With Metastatic, Recurrent or Locally Advanced Cancer and Genomic Instability
This phase II trial studies how well pembrolizumab works in treating participants with cancer that has spread to other places in the body, has come back or has spread to nearby tissues or lymph nodes.
- Conditions
- BRCA1 Gene Mutation, BRCA2 Gene Mutation, Locally Advanced Solid Neoplasm, Metastatic Malignant Solid Neoplasm
- Trial name
- NCT03428802
- Testing
- Laboratory Biomarker Analysis, Pembrolizumab
- Where
- 2 sites in United States
- Volunteers
- 21 people
- Sponsor
- Rutgers, The State University of New Jersey
Non Small Cell Lung Cancer
Ponatinib in Advanced NSCLC w/ RET Translocations
This research study is a Phase II clinical trial, which tests the safety and effectiveness of an investigational drug to learn whether the drug works in treating a specific cancer.
- Trial name
- NCT01813734
- Testing
- Ponatinib
- Where
- 5 sites in United States
- Volunteers
- 9 people
- Sponsor
- Massachusetts General Hospital
Advanced Non Small Cell Lung Cancer (NSCLC)
An Open-label, Randomized Phase II Study to Evaluate the Efficacy of AUY922 vs Pemetrexed or Docetaxel in NSCLC Patients With EGFR Mutations
The purpose of this study was to determine if AUY922 had superior efficacy when compared to chemotherapy agents docetaxel or pemetrexed in patients whose tumor had EGFR mutations.
- Trial name
- NCT01646125
- Testing
- AUY922, Docetaxel, Pemetrexed
- Where
- 27 sites in United States, France and 10 more
- Volunteers
- 59 people
- Sponsor
- Novartis Pharmaceuticals
Advanced Ovarian Cancer, Primary Peritoneal Cancer
Pilot Trial of BMN 673, an Oral PARP Inhibitor, in Patients With Advanced Solid Tumors and Deleterious BRCA Mutations
Background: The poly (ADP-ribose) polymerase (PARP) family of enzymes is critical for maintaining genomic stability by regulating a variety of deoxyribonucleic acid (DNA) damage repair mechanisms.
- Conditions
- Advanced Ovarian Cancer, Primary Peritoneal Cancer, Advanced Breast Cancer, Advanced Solid Tumors
- Trial name
- NCT01989546
- Testing
- BMN 673
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- National Cancer Institute (NCI)
Amyotrophic Lateral Sclerosis
A Study to Assess the Safety, Tolerability, and Effect on Disease Progression of BIIB105 in Participants With Amyotrophic Lateral Sclerosis (ALS) and Participants With the ALS Ataxin-2 (ATXN2) Genetic Mutation
The ALSpire Study is a clinical trial evaluating the investigational drug BIIB105 in adults living with amyotrophic lateral sclerosis (ALS). The ALSpire Study consists of two parts: Part 1: 6-month placebo-controlled study.
- Trial name
- ALSpire (NCT04494256)
- Testing
- BIIB105
- Where
- 17 sites in United States, Canada and 2 more
- Volunteers
- 99 people
- Sponsor
- Biogen
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome
Phosphatase and TENsin homolog (PTEN) gene germline mutations are associated with a spectrum of clinical manifestations characterized by neurocognitive deficits, intellectual disability, autism symptomatology, skin lesions…
- Trial name
- NCT02991807
- Testing
- RAD001
- Where
- 3 sites in United States
- Volunteers
- 46 people
- Sponsor
- Boston Children's Hospital
Relapsed or Refractory Acute Myeloid Leukemia With FLT3 Activating Mutations
Phase II Study of Crenolanib in Subjects With Relapsed/Refractory AML With FLT3 Activating Mutations
This is a Phase II open label study of crenolanib besylate. This study will enroll subjects with relapsed or refractory AML with FLT3 activating mutations. Prior treatment with other FLT3 TKIs is allowed.
- Trial name
- NCT01522469
- Testing
- Crenolanib Besylate (CP-868,596-26)
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Arog Pharmaceuticals, Inc.
Frontotemporal Dementia
A Phase 3 Study to Evaluate Efficacy and Safety of AL001 in Frontotemporal Dementia (INFRONT-3)
A phase 3 double blind, placebo controlled study evaluating the efficacy and safety of AL001 in participants at risk for or with frontotemporal dementia due to heterozygous mutations in the progranulin gene.
- Trial name
- NCT04374136
- Testing
- Part 1 Blinded - AL001, Part 2 (OLE Treatment) - AL001
- Where
- 44 sites in United States, Argentina and 14 more
- Volunteers
- 119 people
- Sponsor
- Alector Inc.
Non-Small Cell Lung Cancer
Tarlox and Sotorasib in Patients With KRAS G12C Mutations
This is a Phase IB dose expansion trial with safety lead-in evaluating the safety, clinical activity/efficacy of the combination of tarloxotinib and sotorasib in patients with KRAS G12C mutation who have progressed on any small…
- Trial name
- NCT05313009
- Testing
- Sotorasib and Tarloxotinib
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Medical University of South Carolina
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Testing Binimetinib as a Potential Targeted Treatment in Cancers With NRAS Genetic Changes (MATCH-Subprotocol Z1A)
This phase II MATCH treatment trial investigates the good and bad effects of binimetinib in patients whose cancer has a genetic change called NRAS mutation.
- Conditions
- Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Hematopoietic and Lymphoid Cell Neoplasm, Refractory Lymphoma
- Trial name
- NCT04439344
- Testing
- Binimetinib
- Where
- United States
- Volunteers
- 53 people
- Sponsor
- National Cancer Institute (NCI)
Non-Squamous Non-Small Cell Lung Cancer
A Study of Tarceva (Erlotinib) in First Line in Patients With Locally Advanced or Metastatic Lung Adenocarcinoma With EGFR Mutations
This open-label, non-randomized, one-arm study will evaluate the safety and efficacy of Tarceva (erlotinib) as single-agent first-line treatment in patients with locally advanced or metastatic non-small cell lung cancer who show…
- Trial name
- NCT01609543
- Testing
- erlotinib [Tarceva]
- Where
- 23 sites in Hungary, Latvia and 1 more
- Volunteers
- 62 people
- Sponsor
- Hoffmann-La Roche
Parkinson's Disease
A Global Study to Assess the Drug Dynamics, Efficacy, and Safety of Venglustat (GZ/SAR402671) in Parkinson's Disease Patients Carrying a Glucocerebrosidase (GBA) Gene Mutation
Primary Objectives: Part 1: To determine the safety and tolerability of 4, 8, and 15 milligrams of GZ/SAR402671 (venglustat) administered orally for 4 weeks, as compared to placebo in participants with early-stage Parkinson's…
- Trial name
- MOVES-PD (NCT02906020)
- Testing
- venglustat GZ/SAR402671
- Where
- 52 sites in United States, Austria and 14 more
- Volunteers
- 273 people
- Sponsor
- Genzyme, a Sanofi Company
Heterozygous Familial Hypercholesterolemia
Trial Assessing Efficacy, Safety and Tolerability of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Inhibition in Paediatric Subjects With Genetic Low-Density Lipoprotein (LDL) Disorders
A study to assess safety and efficacy of evolocumab (AMG-145) in paediatric subjects aged 10-17 years diagnosed with heterozygous familial hypercholesterolemia.
- Trial name
- HAUSER-RCT (NCT02392559)
- Testing
- Evolocumab
- Where
- 66 sites in United States, Australia and 24 more
- Volunteers
- 158 people
- Sponsor
- Amgen
Isocitrate Dehydrogenase Gene Mutation
A Study of HMPL-306 in Advanced Solid Tumors With IDH Mutations
An open label single-arm clinical trial to evaluate the safety, tolerability, PK, PD, and preliminary efficacy of HMPL-306 in advanced or metastatic solid tumors with IDH mutation.
- Trial name
- NCT04762602
- Testing
- HMPL-306
- Where
- 11 sites in United States, Spain
- Volunteers
- 42 people
- Sponsor
- Hutchmed
Breast Cancer, Colorectal Cancer
A Study of Poziotinib in Patients With Epidermal Growth Factor Receptor (EGFR) or Human Epidermal Growth Factor Receptor 2 (HER2) Activating Mutations in Advanced Malignancies
This is a Phase 2, open-label, multicenter study whose principal objectives are to evaluate the efficacy and safety/tolerability of poziotinib in five cohorts of 30 previously-treated patients each.
- Conditions
- Breast Cancer, Colorectal Cancer, Solid Tumor, Glioblastome Multiforme
- Trial name
- NCT04172597
- Testing
- Poziotinib Hydrochloride, Loperamide
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Spectrum Pharmaceuticals, Inc