Clinical trials: Gene Mutations
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, Breast Cancer Metastatic
Niraparib Plus Aromatase Inhibitors for Luminal-like(HER2-,ER+) and gBRCA or HDR+ Metastatic Breast Cancer (LUZERN)
This study evalues the efficacy -as determined by the clinical benefit rate (CBR)- of niraparib in combination with AIs in unresectable locally advanced or metastatic HR-positive/HER2-negative breast cancer patients harboring…
- Trial name
- LUZERN (NCT04240106)
- Testing
- Niraparib, Aromatase Inhibitors
- Where
- 10 sites in Spain
- Volunteers
- 14 people
- Sponsor
- MedSIR
Hypercholesterolemia
A Study of Alirocumab in Participants With Autosomal Dominant Hypercholesterolemia (ADH) and Gain-of-Function Mutations (GOFm) of the Proprotein Convertase Subtilisin Kexin 9 (PCSK9) Gene or Loss-of-Function Mutations (LOFm) of the Apolipoprotein (Apo) B Gene
The primary objective of the study is to assess the pharmacodynamic (PD) effect of alirocumab on serum low density lipoprotein cholesterol (LDL-C) during 14 weeks of subcutaneous (SC) administered alirocumab in patients with…
- Trial name
- NCT01604824
- Testing
- Alirocumab
- Where
- 4 sites in United States, France
- Volunteers
- 23 people
- Sponsor
- Regeneron Pharmaceuticals
HIV-1 Infection
Safety and Efficacy of Doravirine, Tenofovir, Lamivudine (MK-1439A) in Participants Infected With Treatment-Naïve Human Immunodeficiency Virus (HIV) -1 With Transmitted Resistance (MK-1439A-030)
The primary objectives of this study are to evaluate the antiretroviral activity and the safety/tolerability of open-label doravirine/lamivudine/tenofovir disoproxil fumarate (DOR/3TC/TDF; MK-1439A; DELSTRIGO™) consisting of a…
- Trial name
- DRIVE BEYOND (NCT02629822)
- Testing
- Doravirine/lamivudine/tenofovir disoproxil fumarate
- Volunteers
- 10 people
- Sponsor
- Merck Sharp & Dohme LLC
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.
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.
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
Cancer, Cancer Metastatic
Real Word European Registry of NTRK Fusions and Other Rare Actionable Fusions (TRacKING)
This registry will make it possible to describe real life management of patients with rare actionable fusions and to better understand these cancers.
- Conditions
- Cancer, Cancer Metastatic, NTRK Gene Fusion Overexpression, NTRK Family Gene Mutation
- Trial name
- TRacKING (NCT04921553)
- Testing
- Data collection and quality of life questionnaire
- Where
- 41 sites in Austria, Czechia and 9 more
- Volunteers
- 500 people
- Sponsor
- Centre Leon Berard
Leber Congenital Amaurosis, Inherited Retinal Diseases Caused by RPE65 Mutations
Safety and Efficacy Trial of HG004 for Leber Congenital Amaurosis Related to Rpe65 Gene Mutations (STAR)
The purpose of the study is to determine whether HG004 as gene therapy is safe and effective for the treatment of Leber Congenital Amaurosis caused by mutations in RPE65 gene.
- Trial name
- NCT05906953
- Testing
- HG004
- Where
- 3 sites in United States, China
- Volunteers
- 20 people
- Sponsor
- HuidaGene Therapeutics Co., Ltd.
Colo-rectal Cancer, Polygenic Risk Score
Development of Polygenic Risk Scores in Colon Cancer Patients Through the Study of Ancestry and Diversity in Genetic Maps of the Brazilian Population - ORIGEM Project
Development of a polygenic risk score based on somatic and germline genetic information from patients with colorectal cancer
- Conditions
- Colo-rectal Cancer, Polygenic Risk Score, Somatic Mutation, Hereditary Cancer
- Trial name
- ORIGEM (NCT06917794)
- Where
- 9 sites in Brazil
- Volunteers
- 500 people
- Sponsor
- D'Or Institute for Research and Education
Lung Adenocarcinoma
Chemotherapy Plus Gefitinib for Advanced Lung Adenocarcinoma and Sensitive EGFR Mutations: a Randomized Controlled Trial
The purpose of this study is to compare chemotherapy and gefitinib in combination with gefitinib alone as first-line therapy for adenocarcinoma, in terms of efficacy and safety.
- Trial name
- NCT02951637
- Testing
- Pemetrexed plus carboplatin combined with gefitinib, Gefitinib
- Volunteers
- 300 people
- Sponsor
- Shanghai Chest Hospital
HIV Infection
Evaluation of Genetic Markers as Explanations for the Observed Differences in Disease Progression in HIV+ Youth
This protocol is a study of HIV+ young people who were identified as having certain HIV-1 specific T-cell responses and genetic markers while previously enrolled in the 5-year longitudinal adolescent study, "REACH." Blood samples…
- Trial name
- NCT00107029
- Where
- 10 sites in United States
- Volunteers
- 113 people
- Sponsor
- University of North Carolina, Chapel Hill
Carcinoma, Non-Small-Cell Lung
A Clinical Study of Bemcentinib With Standard of Care Chemoimmunotherapy in Untreated Advanced/Metastatic Non-small Cell Lung Cancer Patients With a Mutation in the STK11 Gene
The primary purpose of this study is to determine the safety and tolerability of the combination of bemcentinib with chemo-immunotherapy (CIT) to identify the recommended phase 2 dose (RP2D) when administered as first line (1L)…
- Trial name
- NCT05469178
- Testing
- Bemcentinib, Pembrolizumab, Pemetrexed
- Where
- 34 sites in United States, France and 5 more
- Volunteers
- 26 people
- Sponsor
- BerGenBio ASA
BRCA1 Gene Mutation, BRCA2 Gene Mutation
Cancer Prevention in Women With a BRCA Mutation
This study aims to develop a follow-up telephone-based genetic counselling (FTGC) intervention for women with a BRCA1 or BRCA2 mutation who have received genetic counseling in the past.
- Conditions
- BRCA1 Gene Mutation, BRCA2 Gene Mutation, Breast Cancer, Ovarian Cancer
- Trial name
- NCT02225015
- Testing
- Follow-up Telephone Genetic Counselling
- Where
- 3 sites in Canada
- Volunteers
- 300 people
- Sponsor
- Women's College Hospital
Solid Tumors Harboring NTRK Fusion, NTRK
A Phase 1/2 Study of CG001419 Tablets in Adult Subjects With Locally Advanced or Metastatic Solid Tumours Harbouring NTRK Gene Abnormalities
The goal of this clinical trial is to learn about the safety of drug CG001419. It also learn if drug CG001419 works to treat in locally advanced/metastatic adult solid tumours with NTRK gene fusions, NTRK gene point mutations…
- Conditions
- Solid Tumors Harboring NTRK Fusion, NTRK, NTRK Gene Fusion, NTRK Fusion Positive
- Trial name
- NCT07394374
- Testing
- CG001419 tablets
- Where
- 6 sites in China
- Volunteers
- 42 people
- Sponsor
- Cullgen (Shanghai),Inc
Mastocytosis
Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis
This is a 12 weeks study aimed at assessing the safety and efficacy of 2 doses of AB1010 in patients suffering from indolent systemic mastocytosis with handicap.
- Trial name
- NCT00831974
- Testing
- masitinib (AB1010)
- Volunteers
- 23 people
- Sponsor
- AB Science
Head and Neck Cancer
Studying Biomarkers in Samples From Patients With Recurrent or Metastatic Head and Neck Cancer Treated on E1302 Trial
RATIONALE: Studying samples of blood and tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT01619618
- Testing
- mutation analysis, polymerase chain reaction, polymorphism analysis
- Volunteers
- 183 people
- Sponsor
- Eastern Cooperative Oncology Group
Episodic Ataxia Type 2
4-Aminopyridine in Episodic Ataxia Type 2
Episodic ataxia type 2 (EA2) is a rare familial neurological condition characterized by debilitating episodes of vertigo and imbalance.
- Trial name
- 4AP in EA2 (NCT01543750)
- Testing
- 4-Aminopyridine
- Where
- 3 sites in United States
- Sponsor
- University of California, Los Angeles
Advanced or Recurrent Solid Tumors, FGFR Gene Alterations
NCCH2006/MK010 Trial (FORTUNE Trial)
This is a single-arm, open-label, multicenter, investigator-initiated Phase 2 trial to evaluate the efficacy and safety of E7090 in patients with advanced or recurrent solid tumors harboring FGFR genetic alterations (including…
- Trial name
- NCT04962867
- Testing
- E7090
- Where
- 7 sites in Japan
- Volunteers
- 75 people
- Sponsor
- National Cancer Center, Japan
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.