Search clinical trials for: Rare Mutations

Total 144080 results

Brenda Cooper, MD
National Cancer Institute (NCI)

Completed

Midostaurin and Azacitidine in Treating Elderly Patients With Acute Myelogenous Leukemia

Untreated Adult Acute Myeloid Leukemia

United States
Blueprint Medicines Corporation

Completed

(NAVIGATOR) Study of BLU-285 in Patients With Gastrointestinal Stromal Tumors (GIST) and Other Relapsed and Refractory Solid Tumors

Gastrointestinal Stromal Tumors (GIST) | Other Relapsed or Refractory Solid Tumors

United States, United Kingdom, France, Korea, Republic of, Belgium, Germany, Italy, Netherlands, Poland, Spain
Nanfang Hospital of Southern Medical University
Xiangya Hospital of Central South University; Peking University People's Hospital and other collaborators

Completed

Influence of Co-existing Mutations on Sorafenib Maintenance Therapy After Allo-HSCT for Patients With FLT3-ITD AML

Acute Myeloid Leukemia | Hematopoietic Stem Cell Transplantation | Acute Myeloid Leukemia With FLT3/ITD Mutation

China
AbbVie

No longer available

Expanded Access to Veliparib

High Grade Serous Ovarian Cancer | Solid Tumors With Documented BRCA, BARD, or PALB or Other Acceptable DNA Mutations or Anomalies That Are Scientifically Sound | Triple Negative Breast Cancer (TNBC) | Patients Requiring Veliparib Suspension Formulation
University of British Columbia

Suspended

Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project

Exostoses, Multiple Hereditary

Canada
ProQR Therapeutics

Completed

Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Stellar)

Eye Diseases | Retinitis Pigmentosa | Eye Diseases, Hereditary | Vision Disorders | Retinal Disease | Eye Disorders Congenital | Usher Syndrome Type 2 | Deaf Blind

United States, Canada, France
Institut de Cancérologie de Lorraine

Completed

Determination of the Feasibility of Tumoural Somatic Mutations Detection in Blood of Patients With Ovarian Cancer (BOVARY Pilot)

Ovarian Cancer

France
Children's Hospital of Philadelphia
Vertex Pharmaceuticals Incorporated

Completed

Ivacaftor Treatment in 4 Month to 2 Year Old CF Subjects

Cystic Fibrosis

United States
National Heart, Lung, and Blood Institute (NHLBI)

Terminated

Duvelisib for Ibrutinib-Resistant Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma

Chronic Lymphocytic Leukemia (CLL) | Small Lymphocytic Leukemia (SLL)

United States
Sihuan Pharmaceutical Holdings Group Ltd.
Covance; XuanZhu Pharma Co., Ltd.

Completed

A Phase 1 Study of KBP-5209 in Patients With Advanced Solid Tumors

Advanced Solid Tumors

United States
Novartis Pharmaceuticals

Completed

Study to Investigate the Objective Response Rate of Dabrafenib in Combination With Trametinib in Subjects With BRAF V600 Mutation-Positive Melanoma

Melanoma | Cancer

Taiwan, Thailand, China, Hong Kong, Korea, Republic of
Astellas Pharma Global Development, Inc.

Completed

Treatment Patterns and Key Healthcare Resource Use in Acute Myeloid Leukemia (AML) With or Without FMS-like Tyrosine Kinase-3 (FLT3) Mutation Study Based on Retrospective Chart Review

Acute Myeloid Leukemia (AML)

United States
Gruppo Italiano Malattie EMatologiche dell'Adulto

Completed

Italian Registry on the Prevalence of IDH1/IDH2 Mutations in Patients With Acute Myeloid Leukemia

AML, Adult

Italy
Gruppo Italiano Malattie EMatologiche dell'Adulto

Completed

Nilotinib and Imatinib Mesylate in Treating Patients With Early Chronic Phase Chronic Myelogenous Leukemia (CML0408)

Leukemia

Italy
Central Hospital, Nancy, France
Institut de Cancérologie de Lorraine

Enrolling by invitation

Evaluation of the Response to Tyrosine Kinase Inhibitors in Localized Non-small Cell Lung Cancer (NSCLC) Patients With EGFR Mutation in a Patient-derived Organoid Model (OS-TUMOVASC)

Lung Cancer | Non Small Cell Lung Cancer | Lung Adenocarcinoma | KRAS Mutation-Related Tumors | EGFR Activating Mutation

France
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome

Mitochondrial Disorders | Li-Fraumeni Syndrome | Carriers of p53 Mutation

United States
Sun Yat-sen University

Enrolling by invitation

Mutation Detection for VRL

Uveitis | Vitreoretinal Lymphoma

China
University Medical Centre Ljubljana

Completed

Arterial Function and Atherosclerosis in Essential Thrombocythemia

Atherosclerosis
AstraZeneca

Completed

Characterizing the Cross-sectional Approach to Investigate the Prevalence of Tissue BRCA1/2 Mutations in Newly Diagnosed Advanced Ovarian Cancer Patients (CHRISTELLE)

Ovarian Neoplasms

Japan
University of Ulm

Terminated

Study of Crenolanib in Combination With Chemotherapy in Patients With Relapsed or Refractory Acute Myeloid Leukemia and Activating FLT3 Mutations

Acute Myeloid Leukemia

Germany
Phoenicis Therapeutics

Terminated

A Double-blind, Randomized, Intra-subject Placebo-controlled, Multicenter, Multiple Dose Study, Evaluating Safety, Proof of Mechanism, Preliminary Efficacy and Systemic Exposure in Subjects With Confirmed DDEB or RDEB Diagnosis With One or More Pathogenic Mutations in Exon 73 in the COL7A1 Gene

Epidermolysis Bullosa Dystrophica, Recessive | Epidermolysis Bullosa Dystrophica, Dominant

United States, Spain, France
Alliance for Clinical Trials in Oncology
National Cancer Institute (NCI)

Active, not recruiting

Genetics Study of Tissue Collected From Patients With Acute Myeloid Leukemia

Leukemia

United States
Case Comprehensive Cancer Center

Completed

TET2 Mutations in Myelodysplastic Syndromes and Acute Myeloid Leukemia With Azacitidine + Ascorbic Acid

Acute Myeloid Leukemia | Myelodysplastic Syndromes | Myeloproliferative Neoplasm

United States
Australia New Zealand Gynaecological Oncology Group
BeiGene

Withdrawn

Pamiparib in Fusion Positive, Reversion Negative High Grade Serous Ovarian Cancer or Carcinosarcoma With BRCA1/2 Gene Mutations If Progression on Substrate Poly ADP Ribose Polymerase Inhibitbor (PARPI) or Chemotherapy (PRECISE)

Ovarian Cancer | Carcinosarcoma
Novartis Pharmaceuticals

Completed

Study to Investigate Safety, Pharmacokinetic (PK), Pharmacodynamic (PD) and Clinical Activity of Trametinib in Subjects With Cancer or Plexiform Neurofibromas and Trametinib in Combination With Dabrafenib in Subjects With Cancers Harboring V600 Mutations

Cancer

France, Australia, United States, Canada, United Kingdom
Rhythm Pharmaceuticals, Inc.

Completed

An Observational,Prospective Natural History Study of Early-Onset Extreme Obesity Due to Bi-Allelic Loss-of-Function Mutations in the POMC, PCSK1 or LEPR Genes (NHS)

POMC Deficiency Obesity | PCSK1 Deficiency Obesity | LEPR Deficiency Obesity

Turkey
AGO Research GmbH

Completed

Prevalence of BRCA in Patients With Ovarian Cancer

Ovarian Cancer | BRCA Status

Germany
Columbia University
Cold Spring Harbor Laboratory

Completed

Pancreatic Intraepithelial Neoplasia (PanIN) and the Association With Recurrence of Pancreatic Adenocarcinoma

Pancreatic Cancer

United States
Vanderbilt-Ingram Cancer Center
National Cancer Institute (NCI); National Comprehensive Cancer Network

Completed

Trametinib in Treating Patients With Advanced Melanoma With BRAF Non-V600 Mutations

Recurrent Melanoma | Stage IV Melanoma | Stage IIIB Melanoma | Stage IIIC Melanoma

United States
University of British Columbia
Bristol-Myers Squibb

Completed

A Study Investigating the Predictive Value of Philadelphia Positive Stem Cell Properties in Newly Diagnosed Patients With Chronic Myeloid Leukemia in Chronic Phase Receiving Treatment With Imatinib

Chronic Myeloid Leukemia

Canada
Heidelberg University
Hannover Medical School; University of Leipzig; University Hospital Heidelberg; University of Giessen and other collaborators

Completed

BMPR2 Mutations and Iron Metabolism in Pulmonary Arterial Hypertension (AMIA)

Pulmonary Arterial Hypertension

Germany
Astellas Pharma Global Development, Inc.

Approved for marketing

Expanded Access Study of Gilteritinib (ASP2215) in Patients With FMS-like Tyrosine Kinase 3 (FLT3) Mutated Relapsed or Refractory Acute Myeloid Leukemia (AML) or FLT3-Mutated AML in Complete Remission (CR) With Minimal Residual Disease (MRD)

Acute Myeloid Leukemia (AML) | FMS-like Tyrosine Kinase-3 (FLT3) Mutations

United States, Canada, Japan
TRPHARM
Klinar CRO; Damagen Genetic Diagnostic Center

Enrolling by invitation

A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX) (F-GENE)

Xanthomatosis, Cerebrotendinous

Turkey
NYU Langone Health
Genzyme, a Sanofi Company

Completed

Genzyme Osteopenia/Osteoporosis Study

Gaucher Disease

United States
National Cancer Institute (NCI)

Withdrawn

Dabrafenib and Trametinib in Treating Patients With Erdheim Chester Disease With BRAF V600 Mutations

Erdheim-Chester Disease

United States
UNICANCER

Completed

I-MVAC +/- Panitumumab as First-line Treatment of Advanced Urothelial Carcinoma Without H-Ras Nor K-Ras Mutations (GETUG-AFU19)

KRAS Gene Mutation | Infiltrating Urothelial Carcinoma

France
Sun Yat-sen University

Enrolling by invitation

Almonertinib for Advanced NSCLC Patients With Rare Mutations in EGFR

Safety of Almonertinib

China
National Cancer Institute (NCI)

Completed

Pilot Trial of BMN 673, an Oral PARP Inhibitor, in Patients With Advanced Solid Tumors and Deleterious BRCA Mutations

Advanced Breast Cancer | Advanced Solid Tumors | Primary Peritoneal Cancer | Advanced Ovarian Cancer

United States
Samsung Medical Center

Completed

Olaparib Monotherapy in Relapsed Small Cell Lung Cancer Patients With HR Pathway Gene Mutations Not Limited to BRCA 1/2 Mutations, ATM Deficiency or MRE11A Mutations (SUKSES-B)

Small Cell Lung Cancer

Korea, Republic of
Novartis Pharmaceuticals

Completed

A Study Comparing Trametinib and Dabrafenib Combination Therapy to Dabrafenib Monotherapy in Subjects With BRAF-mutant Melanoma

Melanoma

Canada, Spain, United Kingdom, Netherlands, United States, Argentina, Australia, France, Germany, Greece, Italy, Russian Federation, Sweden, Ukraine
Hellenic Cooperative Oncology Group

Completed

Germline Mutations in Pancreatic Adenocarcinoma (PaMPA)

Pancreatic Cancer | Hereditary Cancer | Predisposition, Genetic | Germline Mutation Abnormality

Greece
National Cancer Institute (NCI)

Completed

Selumetinib Sulfate in Treating Patients With Locally Advanced or Metastatic Pancreatic Cancer With KRAS G12R Mutations

Stage III Pancreatic Cancer AJCC v6 and v7 | Stage IV Pancreatic Cancer AJCC v6 and v7 | KRAS NP_004976.2:p.G12R

United States
Columbia University
Mayo Clinic

Completed

Stool Testing for Pancreatic Cancer

Pancreatic Cancer

United States
HealthCore-NERI
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM (VANISH)

Hypertrophic Cardiomyopathy

United States, Canada
University of Liege
EGID, Lille

Unknown

Research Study for Rare Pathogenic Mutations Causing Type 2 Diabetes and Complications (PreciDiag)

Diabete Type 2

Belgium
Peking University People's Hospital

Unknown

TQB3525 for Advanced Bone Sarcomas With PI3KA Mutations or PTEN Loss (TQBSP)

Safety Issues | Efficacy, Self

China
National Cancer Institute (NCI)

Completed

A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome

Li-Fraumeni Syndrome

United States
Novartis Pharmaceuticals

Completed

A Study to Investigate Safety, Pharmacokinetics (PK) and Pharmacodynamics (PD) of BKM120 Plus GSK1120212 in Selected Advanced Solid Tumor Patients

Advanced and Selected Solid Tumors

Belgium, Spain, Canada, Switzerland, United States
UNC Lineberger Comprehensive Cancer Center
GlaxoSmithKline

Completed

LCCC 1128: Open Label Phase II Trial of the BRAF Inhibitor (Dabrafenib) and the MEK Inhibitor (Trametinib) in Unresectable Stage III and Stage IV BRAF Mutant Melanoma; Correlation of Resistance With the Kinome and Functional Mutations

Unresectable Melanoma | Stage IV Melanoma | Stage III Melanoma | BRAF Mutant Melanoma

United States
University of California, Los Angeles
University of South Florida; University of Rochester

Withdrawn

4-Aminopyridine in Episodic Ataxia Type 2 (4AP in EA2)

Episodic Ataxia Type 2

United States

Search clinical trials for: Rare Mutations

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