Clinical trials: Gene Mutation
Cystic Fibrosis
Study of GLPG1837 in Subjects With Cystic Fibrosis (G551D Mutation)
32 cystic fibrosis patients with the G551D mutation will be treated for 4 weeks, consisting of three consecutive treatment periods: two 1-week periods followed by one 2-week period, evaluating one dose of GLPG1837 each.
- Trial name
- SAPHIRA1 (NCT02707562)
- Testing
- GLPG1837 dose 1, GLPG1837 dose 2, GLPG1837 dose 3
- Where
- 16 sites in Australia, Czechia and 3 more
- Volunteers
- 26 people
- Sponsor
- Lakefront Biotherapeutics NV
Leber Congenital Amaurosis 2, Retinitis Pigmentosa 20
Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene
Rationale: In preparation for treatment with gene therapy, this study is being conducted in order to investigate the natural history of Inherited Retinal Dystrophies (IRDs) due to mutations in RPE65 gene.
- Trial name
- RPE65-NHS (NCT04525261)
- Where
- 9 sites in Italy
- Volunteers
- 60 people
- Sponsor
- University of Campania Luigi Vanvitelli
Borderline Resectable Pancreatic Adenocarcinoma
HRS-4642 in Combination With Nimotuzumab and Chemotherapy for BRPC With KRAS G12D Mutation
This study is a Phase II clinical trial that plans to enroll 40 patients with borderline resectable pancreatic cancer harboring a KRAS G12D mutation, aiming to evaluate the efficacy of HRS-4642 in combination with Nimotuzumab and…
- Trial name
- NCT07240766
- Testing
- HRS-4642+AG+Nimotuzumab
- Where
- 2 sites in China
- Volunteers
- 40 people
- Sponsor
- Zhejiang University
Carcinoma, Non-Small-Cell Lung, ALK Gene Mutation
French National Observatory of the Patients With Non-small Cell Lung (NSCLC) and Molecular Testings
The French National Cancer Institute (INCa) support a 28 hospital platforms network for molecular testing of cancer patients. These platforms routinely assess a panel of biomarkers in order to speed up access of French cancer…
- Conditions
- Carcinoma, Non-Small-Cell Lung, ALK Gene Mutation, KRAS Gene Mutation, BRAF Gene Mutation
- Trial name
- NCT01700582
- Where
- 133 sites in France
- Volunteers
- 17,664 people
- Sponsor
- Intergroupe Francophone de Cancerologie Thoracique
Neurodegenerative Disease, Hereditary, Mitochondrial Diseases
Natural History Study of FDXR Mutation-related Mitochondriopathy
The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the ferredoxin reductase gene.
- Conditions
- Neurodegenerative Disease, Hereditary, Mitochondrial Diseases, Optic Atrophy
- Trial name
- NCT04580979
- Testing
- Mutation analysis
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- State University of New York at Buffalo
NSCLC Stage IV, Oligometastasis
Toripalimab in Combination With Platinum-based Chemotherapy for Mutation-negative Stage IV Oligometastatic NSCLC
In recent years, immune checkpoint inhibitors targeting cytotoxic T-lymphocyte antigen-4, programmed death-1, and programmed death-ligand 1 have achieved milestones in the treatment of NSCLC, from back-line to first-line, and…
- Trial name
- NCT05055583
- Testing
- Toripalimab in Combination With Platinum-based Chemotherapy, Surgical treatment stage, Adjuvant treatment stage
- Where
- China
- Volunteers
- 30 people
- Sponsor
- Tang-Du Hospital
Advanced Solid Malignancies, Breast Cancer - ER+, HER2 -
Phase I, Dose Study to Look at the Safety and Pharmacokinetics of AZD8835 in Patients With Advanced Solid Tumours
First time in patients study of AZD8835. The study has four parts. Part A AZD8835 is administered as a single agent in a multiple ascending dose escalation phase to investigate dose level for monotherapy.
- Conditions
- Advanced Solid Malignancies, Breast Cancer - ER+, HER2 -, Breast Cancer - ER+, HER2-, PIK3CA Gene Mutation
- Trial name
- NCT02260661
- Testing
- AZD8835, AZD8835 in combination with fulvestrant
- Where
- 9 sites in United States, United Kingdom
- Volunteers
- 20 people
- Sponsor
- AstraZeneca
Breast Cancer, Metastatic
Integrated Testing Strategy for Simultaneous Detection of ESR-1 and gBRCA Mutations Via Liquid Biopsy in HR+/HER2- Metastatic Breast Cancer (mBC) Patients,
Development and validation of an integrated testing strategy for simultaneous detection of ESR-1 and gBRCA mutations via liquid biopsy in HR+/HER2- metastatic breast cancer (mBC) patients, and the creation of a digital gene…
- Trial name
- L2-268 (NCT06762483)
- Where
- Italy
- Volunteers
- 80 people
- Sponsor
- European Institute of Oncology
Cancer
A Rollover Study to Provide Continued Treatment With GSK2118436 to Subjects With BRAF Mutation-Positive Tumors
This rollover study is designed to provide continued access to GSK2118436 for eligible subjects with BRAF mutation-positive tumors who have previously participated in a GlaxoSmithKline (GSK)-sponsored GSK2118436 study (parent…
- Trial name
- NCT01231594
- Testing
- GSK2118436, GSK1120212, Other approved anti-cancer agent
- Where
- 44 sites in United States, Australia and 7 more
- Volunteers
- 214 people
- Sponsor
- Novartis Pharmaceuticals
Melanoma
Vemurafenib (R05185426) in Poor Performance Status Patients With Unresectable Locally Advanced or Metastatic Melanoma Harboring a V600E/K Mutation
The purpose of this study is to find out what effects, good and/or bad, vemurafenib has on the patient and the melanoma. Specifically, the investigators want to know how well vemurafenib shrinks melanoma.
- Trial name
- NCT01474551
- Testing
- vemurafenib
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant
Natural History of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation
The purpose of this study is to characterize the disease progression of confirmed OPA1 mutation-associated autosomal dominant optic atrophy (ADOA) by evaluating the changes in ocular structural and functional outcomes.
- Conditions
- Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant, Optic Atrophies, Hereditary, Kjer Optic Atrophy
- Trial name
- NCT06140329
- Where
- 7 sites in United States, Australia and 4 more
- Volunteers
- 1 people
- Sponsor
- PYC Therapeutics
Locally Advanced or Metastatic Breast Cancer
Evaluation of Lasofoxifene Versus Fulvestrant in Advanced or Metastatic ER+/HER2- Breast Cancer With an ESR1 Mutation
This is an open label, randomized, multicenter study evaluating the activity of lasofoxifene relative to fulvestrant for the treatment of pre- and postmenopausal women with locally advanced or metastatic ER+/HER2- breast cancer…
- Trial name
- NCT03781063
- Testing
- Lasofoxifene, Fulvestrant
- Where
- 51 sites in United States, Canada and 1 more
- Volunteers
- 100 people
- Sponsor
- Sermonix Pharmaceuticals Inc.
Pancreatic Cancer
Phase II Trial to Evaluate Gemcitabine and Etoposide for Locally Advanced or Metastatic Pancreatic Cancer
Pancreatic cancer is a devastating disease. Previous research shows a correlation between a specific oncogene change (ras-mutation) and enhanced sensitivity to two chemotherapy drugs combined: gemcitabine and etoposide.
- Trial name
- NCT00202800
- Testing
- Gemcitabine, Etoposide
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Corewell Health West
MECP2-Related Severe Neonatal Encephalopathy, Dysautonomia
Dysautonomic Phenotype in Male Patients With MECP2 Mutation
Dysautonomic signs are well known among girls with a Rett Syndrom. Rett syndrom is caused by a MECP2 mutation in 95% of cases. We want to search dysautonomic signs among boys with a MECP2 mutations because they are less studied…
- Conditions
- MECP2-Related Severe Neonatal Encephalopathy, Dysautonomia, Masculinity
- Trial name
- MECP2BOYS (NCT04502199)
- Testing
- non interventional study
- Where
- 7 sites in France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Brest
Cystic Fibrosis
Efficacy and Safety Study of EGCG/Tocotrienol in 18 Patients With Splicing-mutation-mediated Cystic Fibrosis (CF)
Working Hypothesis: EGCG and Tocotrienol can act as genetic modifiers and increase the level of correctly spliced CFTR transcripts.
- Trial name
- NCT00889434
- Testing
- ECGC, Tocotrienol, EGCG + Tocotrienol
- Where
- Israel
- Volunteers
- 7 people
- Sponsor
- Hadassah Medical Organization
Sleep Disorders, Circadian Rhythm
Effects of Vitamin B12 on the Body's Internal Clock
Circadian rhythms are 24-hour cycles that influence natural functions in the body such as heart rate, blood pressure, and body temperature. Circadian rhythms provide the body with an internal clock and affect sleep patterns.
- Trial name
- NCT00120484
- Testing
- Vitamin B12
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Surgical Menopause, BRCA1 Mutation
Health After eaRly Menopause Due to Oophorectomy
Risk-Reducing Salpingo-Oophorectomy (RRSO) at the age of 35 to 45 years is recommended for women with a high genetic risk for ovarian cancer.
- Conditions
- Surgical Menopause, BRCA1 Mutation, BRCA2 Mutation, Cardiovascular Diseases
- Trial name
- HARMOny (NCT03835793)
- Testing
- CAC-score
- Where
- Netherlands
- Volunteers
- 750 people
- Sponsor
- The Netherlands Cancer Institute
Depression, Postpartum
The Impact of Creative Interventions on Symptoms of Postnatal Depression (Cohort Study)
Post-natal depression (PND) is anticipated to affect 12.9% of new mothers with at least 75,000 cases per year in the UK alone. However, despite this, there is currently a worrying lack of support for new mothers, with data…
- Trial name
- NCT02526433
- Where
- United Kingdom
- Volunteers
- 2,558 people, healthy volunteers welcome
- Sponsor
- Royal College of Music
Upper Central Incisor Edentulism
Central Incisors Narrow Implants in Alternative to Bone Augmentation With 4.2 mm Implants .
Horizontal bone augmentation procedures are commonly used to increase bone width to allow the placement of dental implants or to improve aesthetics in deficient areas.
- Trial name
- NCT02897193
- Testing
- ICE dental implant 4.2 mm, NICE dental implant 3.2 mm, Alpha Bio's Graft Bovine bone
- Where
- 2 sites in Chile
- Volunteers
- 42 people
- Sponsor
- Alpha - Bio Tec Ltd.
Pre-diabetes
Common Genetic Variation and Type 2 Diabetes
Type 2 diabetes is a common metabolic disorder arising from a complex interaction between genetic predisposition and the environment.
- Trial name
- NCT00707616
- Testing
- Oral glucose tolerance test
- Where
- United States
- Volunteers
- 190 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
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