Clinical trials: Genetic Mutation
Acute Myeloid Leukemia (AML)
IDH1/IDH2 Mutation Frequency in Acute Myeloblastic Patients
This leukemia is characterized by a poor prognosis for most patients, as they have a high relapse rate despite aggressive treatment with chemotherapy agents and allogeneic bone marrow transplantation.
- Trial name
- NCT03204838
- Testing
- IDH mutation test performed at diagnosis
- Where
- Mexico
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Hospital General de Mexico
Accelerated/Blast-phase Myeloproliferative Neoplasm, Chronic-phase Myelofibrosis
Combined Ruxolitinib and Enasidenib in Patients With Accelerated/Blast-phase Myeloproliferative Neoplasm or Chronic-phase Myelofibrosis With an IDH2 Mutation
The presence of IDH mutation is associated with worse survival in patients with myelofibrosis. Moreover IDH mutations are among the most frequently encountered events in MPNs that have progressed to acute myeloid leukemia.
- Conditions
- Accelerated/Blast-phase Myeloproliferative Neoplasm, Chronic-phase Myelofibrosis, IDH2 Mutation
- Trial name
- NCT04281498
- Testing
- Ruxolitinib, Enasidenib
- Where
- 11 sites in United States, Canada
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- John Mascarenhas
Advanced Malignant Solid Neoplasm, Recurrent Childhood Ependymoma
Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial)
This phase II Pediatric MATCH trial studies how well erdafitinib works in treating patients with solid tumors, non-Hodgkin lymphoma, or histiocytic disorders with FGFR mutations that have spread to other places in the body and…
- Conditions
- Advanced Malignant Solid Neoplasm, Recurrent Childhood Ependymoma, Recurrent Childhood Malignant Germ Cell Tumor, Recurrent Childhood Medulloblastoma
- Trial name
- NCT03210714
- Testing
- Biospecimen Collection, Bone Marrow Aspiration and Biopsy, Bone Scan
- Where
- 116 sites in United States, Puerto Rico
- Volunteers
- 20 people
- Sponsor
- National Cancer Institute (NCI)
Chronic Myeloid Leukemia
Homoharringtonine (Omacetaxine Mepesuccinate) in Treating Patients With Chronic Myeloid Leukemia (CML) With the T315I BCR-ABL Gene Mutation
To evaluate the safety and efficacy of subcutaneous administration of omacetaxine mepesuccinate (HHT) in achieving a clinical response in CML patients in chronic, accelerated, or blast phase who have failed prior imatinib therapy…
- Trial name
- NCT00375219
- Testing
- Omacetaxine mepesuccinate
- Where
- 32 sites in United States, Canada and 8 more
- Volunteers
- 103 people
- Sponsor
- Teva Branded Pharmaceutical Products R&D, Inc.
Metastatic Colorectal Cancer
FOLFOXIRI With or Without Bevacizumab as First-line Treatment for Unresectable Liver-only Metastatic Colorectal Cancer Patients With RAS Mutation-type
BACKGROUND: For patients with liver-limited metastatic colorectal cancer (mCRC), complete resection of liver metastases is the only potentially curative treatment.
- Trial name
- FORBES (NCT02350530)
- Testing
- FOLFOXIRI + Bevacizumab, FOLFOXIRI
- Where
- China
- Volunteers
- 138 people
- Sponsor
- Sun Yat-sen University
Retinitis Pigmentosa
Safety and Tolerability Study of Gene Editing Drug ZVS203e in Participants With Retinitis Pigmentosa
The purpose of this study is to evaluate the safety, tolerability and efficacy of a single escalating doses of ZVS203e administered via subretinal injection in participants with RP caused by RHO site-specific gene mutation…
- Trial name
- NCT05805007
- Testing
- ZVS203e
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Peking University Third Hospital
Schizo-affective Disorder, Bipolar Disorder
Neurobiology of a Mutation in Glycine Metabolism in Psychotic Disorders
The purpose of this study is to assess the efficacy of oral glycine as an augmentation strategy in two psychotic patients with a triplication (4 copies) of the gene glycine decarboxylase (GLDC).
- Trial name
- NCT01720316
- Testing
- Glycine
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Mclean Hospital
Breast Cancer
Telephone-Based Genetic Counseling or Standard Genetic Counseling in Women at Risk of Carrying the BRCA1 or BRCA2 Mutation
RATIONALE: Genetic counseling may work as well over the telephone as it does in-person. It is not yet known whether genetic counseling by telephone is more effective than standard (in-person) genetic counseling in women at risk…
- Trial name
- NCT00287898
- Testing
- Telephone Genetic Counseling, Usual Care
- Where
- 4 sites in United States
- Volunteers
- 669 people
- Sponsor
- Georgetown University
Cancer
Clinical Study of YYJD Decoction Combined With Gefitinib in Advanced Pulmonary Adenocarcinoma
The investigators performed a multi-centered, randomized, double blinded, placebo-controlled, prospective clinical trial on the effect of Yiqi-yangyin-jiedu decoction (YYJD), a chinese herbal medicine (CHM) formula combined with…
- Trial name
- NCT02929693
- Testing
- gefitinib, Yiqi-yangyin-jiedu decoction
- Volunteers
- 198 people
- Sponsor
- Shanghai University of Traditional Chinese Medicine
Colorectal Cancer Metastatic
Rechallenge of Cetuximab Combined With Irinotecan as Third-line Chemotherapy in Patients With Metastatic Colorectal Cancer - Phase II Study
The main objective of this study is to evaluate the objective response rate at two months (complete disappearance of the disease and partial disappearance of the disease) obtained after administration of combination therapy with…
- Trial name
- REGAIN (NCT02316496)
- Testing
- cetuximab, Irinotecan
- Where
- 20 sites in France
- Volunteers
- 2 people
- Sponsor
- GERCOR - Multidisciplinary Oncology Cooperative Group
Non-small Cell Lung Cancer
A Confirmatory Clinical Study in NSCLC Patients With MET Exon 14 Mutation (KUNPENG-2)
The goal of this clinical trial is to test if PLB1001 works well and safely in Non-small cell lung cancer patients with MET exon 14 mutation.
- Trial name
- KUNPENG-2 (NCT05989542)
- Testing
- PLB1001
- Where
- China
- Volunteers
- 136 people
- Sponsor
- Beijing Pearl Biotechnology Limited Liability Company
Non-Small-Cell Lung Carcinoma
A Study of Nivolumab + Chemotherapy or Nivolumab + Ipilimumab Versus Chemotherapy in Non-Small Cell Lung Cancer (NSCLC) Participants With Epidermal Growth Factor Receptor (EGFR) Mutation Who Failed 1L or 2L EGFR Tyrosine Kinase Inhibitor (TKI) Therapy
The main purpose of this study is to determine whether nivolumab + chemotherapy is effective as compared to chemotherapy in the treatment of patients with EGFR mutation, NSCLC who failed first line (1L) or second-line (2L) EGFR…
- Trial name
- CheckMate722 (NCT02864251)
- Testing
- Nivolumab, Ipilimumab, Pemetrexed
- Where
- 109 sites in United States, Canada and 8 more
- Volunteers
- 367 people
- Sponsor
- Bristol-Myers Squibb
Glioma, Molecular Sequence Variation
Survival Significance of Molecular Pathology and Genetic Variation in Brain Gliomas
This study aims to collect clinical, radiological, pathological, molecular and genetic data including detailed clinical parameters, MR and histopathology images, molecular pathology and genetic data.
- Conditions
- Glioma, Molecular Sequence Variation, Genetic Change
- Trial name
- NCT04216537
- Testing
- Glioma groups based on molecular pathology or genetic variation
- Where
- China
- Volunteers
- 3,000 people
- Sponsor
- The First Affiliated Hospital of Zhengzhou University
Growth Disorders
Growth Hormone in a Patient With a Dominant-Negative GHR Mutation
This is a prospective interventional study designed for a single patient with a dominant-negative mutation in the growth hormone receptor gene (GHR) which results in increased levels of growth hormone binding protein (GHBP).
- Trial name
- NCT05382637
- Testing
- Somatropin
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Children's National Research Institute
Breast Cancer
Barriers to Screening Breast MRI Utilization Among Patients at Elevated Risk
This study seeks to develop an explanatory framework for breast MRI utilization to inform future interventions. The Health Services Utilization Model (HSUM) will guide the selection of specific participant-level factors for…
- Trial name
- B-SUPER (NCT04257474)
- Testing
- Self-Report Survey, Qualitative Interviews
- Where
- 2 sites in United States
- Volunteers
- 265 people
- Sponsor
- H. Lee Moffitt Cancer Center and Research Institute
2-year Disease-Free Survival
Clinical Trial of Neoadjuvant Targeted Treatment to NSCLC Patients
The purpose of this study is to evaluate the efficiency and safety of Gefitinib Neoadjuvant Therapy and Oral Navelbine Carboplatin Neoadjuvant Therapy for Resectable Stage Ⅱ-ⅢA NSCLC patients with EGFR mutation.
- Trial name
- NCT03203590
- Testing
- Oral Navelbine + Carboplatin, Gefitinib
- Where
- 5 sites in China
- Volunteers
- 590 people
- Sponsor
- Sun Yat-sen University
HER2 Gene Mutation
IAH0968 in Combination With GC for the Treatment of HER2-Positive Unresectable Advanced/Metastatic Malignant Tumors
The study aims to evaluate the efficacy and safety of IAH0968 in combination with gemcitabine and cisplatin for the treatment of HER2-positive unresectable advanced/metastatic malignant tumors and cholangiocarcinoma.
- Trial name
- NCT05991518
- Testing
- Injection of IAH0968+Gemcitabine+Cisplatin, Gemcitabine+Cisplatin
- Where
- China
- Volunteers
- 136 people
- Sponsor
- SUNHO（China）BioPharmaceutical CO., Ltd.
Solid Tumor Cancer, PDAC
IN10018 in Combination With RNK08954 for the Treatment of KRASG12D Mutation-Positive Locally Advanced or Metastatic Solid Tumors
This is a multicenter, open-label, Phase Ib/II clinical study. The study includes Phase Ib-Dose Exploration Stage and Phase II - Efficacy Exploration and Determination Stage.
- Trial name
- NCT07441174
- Testing
- IN10018 in combination with RNK08954
- Where
- 14 sites in China
- Volunteers
- 92 people
- Sponsor
- InxMed (Shanghai) Co., Ltd.
Mitochondrial Myopathies, Mitochondrial Pathology
Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)
SPIMD-301 is a 48-week, randomized, double-blind, parallel-group, placebo-controlled trial to assess efficacy and safety of single daily subcutaneous (SC) administration of elamipretide as a treatment for subjects with primary…
- Conditions
- Mitochondrial Myopathies, Mitochondrial Pathology, Mitochondrial DNA Mutation, Mitochondrial Diseases
- Trial name
- NuPower (NCT05162768)
- Testing
- Elamipretide
- Where
- 32 sites in United States, Australia and 8 more
- Volunteers
- 102 people
- Sponsor
- Stealth BioTherapeutics 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.
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