Clinical trials: Mutation
Acute Myeloid Leukemia (AML), Acute Myeloid Leukemia With FMS-like Tyrosine Kinase 3 (FLT3) Mutation / Internal Tandem Duplication (ITD)
A Study of Gilteritinib (ASP2215) Combined With Chemotherapy in Children, Adolescents and Young Adults With FMS-like Tyrosine Kinase 3 (FLT3)/Internal Tandem Duplication (ITD) Positive Relapsed or Refractory Acute Myeloid Leukemia (AML)
The purpose of the phase 1 portion (dose escalation) of the study was to establish an optimally safe and biologically active recommended phase 2 dose (RP2D) and/or to determine maximum tolerated dose (MTD) for gilteritinib in…
- Trial name
- NCT04240002
- Testing
- gilteritinib, fludarabine, cytarabine
- Where
- 7 sites in United States, Germany and 3 more
- Volunteers
- 9 people
- Sponsor
- Astellas Pharma Global Development, Inc.
Vascular Dysfunction, Genetic Mutations
Vascular Disease Discovery Protocol
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels.
- Conditions
- Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
- Trial name
- NCT03538639
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
HIV Infections
Comparison of Three Anti-HIV Drug Combinations in HIV-Infected Patients With No Symptoms of the Disease
To validate that the alteration of codon 215 of reverse transcriptase in plasma virus precedes the increase in viral burden as measured in the peripheral blood and the decline in CD4 count that have been observed in association…
- Trial name
- NCT00001045
- Testing
- Nevirapine, Zidovudine, Didanosine
- Where
- 59 sites in United States, Puerto Rico
- Volunteers
- 300 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Posterior Column Ataxia With Retinitis Pigmentosa
Antisense Oligonucleotide Treatment for PCARP Disease Due to Mutation in FLVCR1
The goal of this clinical trial is to evaluate a specific antisense oligonucleotide medication in one patient with posterior column ataxia with retinitis pigmentosa.
- Trial name
- NCT06565572
- Testing
- nL-FLVC-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of Colorado, Denver
Congenital Central Hypoventilation Syndrome
Late-onset Congenital Central Hypoventilation Syndrome and the Mutation of Phox2B Gene
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory control characterized by ventilatory impairment that results in arterial hypoxemia.
- Trial name
- CCHS (NCT01225679)
- Testing
- positive airway pressure, Non-invasive mechanic ventilation
- Where
- Brazil
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Associação Fundo de Incentivo à Pesquisa
Anaesthesia Complication, Perioperative Adverse Events
MC1R Mutations Associated With Red Hair and Perioperative Anesthesia Complications
The study aims to investigate whether patients with Melanocortin-1 receptor (MC1R) mutations, associated with red hair, or having a red hair phenotype, have a higher incidence of anesthesia-related perioperative complications.
- Conditions
- Anaesthesia Complication, Perioperative Adverse Events, Red Hair, Melanocortin 1 Receptor
- Trial name
- MARPAC (NCT07815431)
- Where
- Sweden
- Volunteers
- 100,000 people
- Sponsor
- Uppsala University
Malignant Melanoma
Study Of Zelboraf (Vemurafenib) in Patients With Locally-Advanced, Unresectable, Stage IIIc Or Metastatic Melanoma and Activating Exon 15 BRAF Mutations Other Than V600E
This is an open-label, multicenter, single-agent, phase II study of continuous oral Zelboraf (vemurafenib) in participants with locally-advanced, unresectable, stage IIIc or metastatic melanoma and activating exon 15 BRAF…
- Trial name
- NCT01586195
- Testing
- Vemurafenib
- Where
- 15 sites in United States
- Volunteers
- 31 people
- Sponsor
- Genentech, Inc.
Breast Neoplasms
The Efficacy of Fulvestrant in ESR1(Estrogen Receptor 1) Mutated Metastatic Breast Cancer
This is an open-label, single arm, phase II trial to evaluate the efficacy and safety of 500mg Fulvestrant (Faslodex®) in ESR1 mutated postmenopausal women with hormone receptor positive, HER2 negative locally advanced or…
- Trial name
- NCT03202862
- Testing
- Fulvestrant
- Volunteers
- 50 people
- Sponsor
- Fudan University
Neurofibromatosis Type 2
Efficacy and Safety of REC-2282 in Patients With Progressive Neurofibromatosis Type 2 (NF2) Mutated Meningiomas
This is a two-staged, Phase 2/3, randomized, multi-center study to investigate the efficacy and safety of REC-2282 in participants with progressive NF2 mutated meningiomas.
- Trial name
- POPLAR-NF2 (NCT05130866)
- Testing
- REC-2282
- Where
- 15 sites in United States, United Kingdom
- Volunteers
- 25 people
- Sponsor
- Recursion Pharmaceuticals Inc.
Cardiomyopathy
Natural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy
The objective of this study is to collect information on patients with cardiomyopathy (CM) due to mutations in the MYBPC3 gene, to evaluate their disease course, burden of illness, risk factors for this disease, and the quality…
- Trial name
- MyCLIMB (NCT05112237)
- Where
- 29 sites in United States, Canada and 2 more
- Volunteers
- 200 people
- Sponsor
- Tenaya Therapeutics
NSCLC
An Open Label Study of BIBW 2992/Afatinib in Advanced Non-Small Cell Lung Cancer Patients Pre-treated With Erlotinib or Gefitinib
Advanced lung cancer (non-small cell lung cancer) with a mutation in the EGFR (epidermal growth factor receptor) gene, which have disease progression after treatment with an EGFR inhibitor (erlotinib or gefitinib), and have…
- Trial name
- NCT01932229
- Testing
- Afatinib treatment
- Where
- Israel
- Volunteers
- 20 people
- Sponsor
- Sheba Medical Center
Crohn's Disease
Immunological Consequences of CARD15/NOD2 Mutations in Crohn's Disease
The project is based on adult and paediatric cohorts among the largest ones in Paris and located at Saint Louis and Robert Debré hospitals.
- Trial name
- PLAC (NCT00780949)
- Testing
- intestinal biopsies
- Where
- France
- Volunteers
- 110 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Recurrent Low Grade Astrocytoma, Recurrent WHO Grade 2 Glioma
A Study to Compare Treatment With the Drug Selumetinib Alone Versus Selumetinib and Vinblastine in Patients With Recurrent or Progressive Low-Grade Glioma
This phase III trial investigates the best dose of vinblastine in combination with selumetinib and the benefit of adding vinblastine to selumetinib compared to selumetinib alone in treating children and young adults with…
- Conditions
- Recurrent Low Grade Astrocytoma, Recurrent WHO Grade 2 Glioma, Refractory Low Grade Astrocytoma, Refractory Low Grade Glioma
- Trial name
- NCT04576117
- Testing
- Biospecimen Collection, Magnetic Resonance Imaging, Quality-of-Life Assessment
- Where
- 101 sites in United States, Canada
- Volunteers
- 300 people
- Sponsor
- National Cancer Institute (NCI)
AML, Adult
Avapritinib Maintenance for AML With KIT Mutations
A multicenter, single-arm clinical study of evaluate the efficacy and safety of avapritinib as maintenance therapy following allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia patients with KIT mutation.
- Trial name
- NCT06765915
- Testing
- Avapritinib
- Where
- China
- Volunteers
- 47 people
- Sponsor
- Ruijin Hospital
Recurrent Childhood Malignant Solid Neoplasm, Recurrent Childhood Neuroblastoma
Testing the Addition of an Anti-Cancer Drug, Daraxonrasib, for Relapsed or Refractory Solid Tumors With RAS Mutations
This phase I/II trial tests the safety, side effects, best dose and how well giving daraxonrasib works for the treatment of pediatric patients with solid tumors with RAS mutations that has come back after a period of improvement…
- Conditions
- Recurrent Childhood Malignant Solid Neoplasm, Recurrent Childhood Neuroblastoma, Recurrent Childhood Rhabdomyosarcoma, Refractory Childhood Malignant Solid Neoplasm
- Trial name
- NCT07819838
- Testing
- Biospecimen Collection, Bone Marrow Aspiration, Bone Marrow Biopsy
- Volunteers
- 77 people
- Sponsor
- Children's Oncology Group
Breast Cancer, DCIS
Robotic Nipple Sparing Mastectomy with Immediate Reconstruction
Aim of this trial is to verify whether the patients' quality of life can be improved by a less invasive surgical procedure and whether the use of robotic technique for nipple-sparing mastectomy associated to prepectoral direct…
- Conditions
- Breast Cancer, DCIS, BRCA Mutation
- Trial name
- NCT06860217
- Testing
- Robotic Nipple-Sparing Mastectomy
- Where
- Italy
- Volunteers
- 24 people
- Sponsor
- European Institute of Oncology
Hypertrophic Cardiomyopathy, Left Ventricular Hypertrophy
Factors Contributing to Increased Left Ventricle Size in Patients With Abnormally Enlarged Hearts
The human heart is divided into four chambers. One of the four chambers, the left ventricle, is the chamber mainly responsible for pumping blood out of the heart into the circulation.
- Trial name
- NCT00001878
- Where
- United States
- Volunteers
- 175 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
KMT2A-rearranged, NPM1-mutant Refractory or Relapsed AML
Ziftomenib + Mezigdomide in Adolesc. and Adults w/ R/R AML
The purpose of this study is to evaluate the safety and tolerability of mezigdomide in combination with ziftomenib in adolescent and adult participants with either KMT2A-rearranged (KMT2A-r) or NPM1-mutant relapsed or refractory…
- Trial name
- NCT07355335
- Testing
- Ziftomenib, Mezigdomide
- Where
- 2 sites in United States
- Volunteers
- 24 people
- Sponsor
- Massachusetts General Hospital
Treatment of Congenital Hearing Loss Secondary to Biallelic Mutations of the Otoferlin Gene (OTOF)
A Clinical Trial of EHT102 Injection in Pediatric Patients With Biallelic hOTOF Mutations
This study is a multicenter, single-arm, open-label Phase I/II clinical trial, which is designed to evaluate the safety, tolerability and efficacy of EHT102 injection in treating congenital hearing loss secondary to biallelic…
- Trial name
- NCT07288580
- Testing
- EHT102 Injection
- Where
- China
- Volunteers
- 30 people
- Sponsor
- Shanghai Euhearing Therapeutics Co., Ltd
NSCLC, Stage I, NSCLC, Stage II
A Real-world Study of Adjuvant Therapy in Early Stage NSCLC With EGFR Mutation-Positive in China
This study is a prospective, national, multi-center, non-interventional study. The main purpose is to explore the initial adjuvant treatment pattern after radical resection for early-stage NSCLC patients with EGFR…
- Conditions
- NSCLC, Stage I, NSCLC, Stage II, NSCLC, Stage III
- Trial name
- ADDRESS (NCT04830826)
- Testing
- Surgeries
- Where
- 51 sites in China
- Volunteers
- 1,490 people
- Sponsor
- The First Affiliated Hospital of Guangzhou Medical University