Clinical trials: Genetic Mutations
Advanced or Metastatic Solid Tumors, FGFR Mutations
Efficacy and Safety of Pemigatinib in Participants With Solid Tumors With FGFR Mutations or Translocations (FIGHT-208)
The purpose of this study is to evaluate the efficacy and safety of pemigatinib in participants with previously treated locally advanced/metastatic or surgically unresectable solid tumors harboring activating FGFR mutations or…
- Conditions
- Advanced or Metastatic Solid Tumors, FGFR Mutations, FGFR Translocations
- Trial name
- NCT04003623
- Testing
- Pemigatinib
- Where
- 11 sites in United States
- Volunteers
- 1 people
- Sponsor
- Incyte Corporation
X-Linked Hypophosphataemia
A UK Multicentre, Health-Related Quality of Life Study for Children and Adolescents With XLH
This study aims to provide Health-related Quality of Life (HRQoL) data from children and adolescents with growing skeletons in the United Kingdom (UK), including those treated with burosumab or alternative XLH treatment, as part…
- Trial name
- NCT04819490
- Where
- 6 sites in United Kingdom
- Volunteers
- 32 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Ovarian Cancer, Breast Cancer
Roll Over StudY for Patients Who Have Completed a Previous Oncology Study With Olaparib
The rationale of the ROSY-O study is to continue to provide study treatment for patients who have participated in a parent study with olaparib and who are continuing to derive clinical benefit from treatment at the end of such…
- Trial name
- ROSY-O (NCT04421963)
- Testing
- Olaparib
- Where
- 107 sites in United States, Belgium and 21 more
- Volunteers
- 185 people
- Sponsor
- AstraZeneca
Lung Cancer
Almonertinib as First-line Treatment in Patients With EGFR Mutations Positive in Advanced NSCLC With Brain Metastases
This is a prospective, open-label, multi-center, single-arm clinical trial
- Trial name
- ACHIEVE (NCT04808752)
- Testing
- Almonertinib
- Where
- China
- Volunteers
- 63 people
- Sponsor
- Zhejiang Cancer Hospital
X-Linked Retinitis Pigmentosa
A Study Comparing Two Doses of AGTC-501 in Male Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (SKYLINE)
This study will evaluate the safety and efficacy of a recombinant adeno-associated virus vector (rAAV2tYF-GRK1-RPGR) in patients with X-linked retinitis pigmentosa caused by RPGR mutations.
- Trial name
- NCT06333249
- Testing
- rAAV2tYF-GRK1-RPGR
- Where
- 6 sites in United States
- Volunteers
- 14 people
- Sponsor
- Beacon Therapeutics
ERα+ Breast Cancer, ESR1 Gene Mutation
FES Imaging to Optimize Tamoxifen for Metastatic Breast Cancer
Despite broad advancements in endocrine therapy for ERα+ breast cancer, resistance ultimately develops. A common driver of resistance are known ESR1 mutations that lead to constitutively active receptor signaling and…
- Trial name
- NCT04174352
- Testing
- Tamoxifen, FES PET/CT
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- University of Wisconsin, Madison
Cystinosis
Use of Cysteamine in the Treatment of Cystinosis
Cystinosis is an inherited disease resulting in poor growth and kidney failure. There is no known cure for cystinosis, although kidney transplantation may help the renal failure and prolong survival.
- Trial name
- NCT00359684
- Testing
- Cysteamine
- Where
- United States
- Volunteers
- 330 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Nevi
Study to Test Genetic Alterations Among Different Dermoscopic Types of Melanocytic Nevi.
This project is a multicenter study in which we will investigate a dual concept of nevogenesis. Study location is the Department of Dermatology at the Medical University of Graz in collaboration with centers in Austria (Vienna)…
- Trial name
- NCT00422448
- Testing
- To test the frequency of BRAF and NRAS mutations among nevi
- Where
- Austria
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Medical University of Graz
Non-Small Cell Lung Cancer
A Study of Prevalence of EGFR Mutations in Participants With NSCLC
This is a non-interventional, local, multicenter, cross-sectional study to determine the prevalence of epidermal growth factor receptor (EGFR) mutations in participants diagnosed with non-squamous non-small cell lung cancer…
- Trial name
- NCT02695849
- Where
- 2 sites in Jordan
- Volunteers
- 69 people
- Sponsor
- Hoffmann-La Roche
Advanced Cancers Harbouring Mutations in HRG
Efficacy of Olaparib in Advanced Cancers Occurring in Patients With Germline Mutations or Somatic Tumor Mutations in Homologous Recombination Genes
At present targeted therapy with the PARP inhibitor olaparib has become standard of care in advanced platinum sensitive BRCA1/2 mutant ovarian cancer.
- Trial name
- 1-2018 BSMO (NCT03967938)
- Testing
- Olaparib Oral Capsule
- Where
- Belgium
- Volunteers
- 540 people
- Sponsor
- Universitair Ziekenhuis Brussel
Duchenne Muscular Dystrophy
Six Month Study of Gentamicin in Duchenne Muscular Dystrophy With Stop Codons
The purpose of this study is to determine the safety of giving intravenous (IV) gentamicin to boys with Duchenne muscular dystrophy who have stop codon mutations.
- Trial name
- NCT00451074
- Testing
- Gentamicin infusions twice a week for six months
- Where
- 3 sites in United States
- Volunteers
- 12 people
- Sponsor
- Nationwide Children's Hospital
Advanced Malignancies That Harbor IDHR132 Mutations
A Study of IDH305 in Patients With Advanced Malignancies That Harbor IDH1R132 Mutations
A Phase I study of IDH305 in patients with advanced malignancies that harbor IDH1R132 mutations.
- Trial name
- NCT02381886
- Testing
- IDH305
- Where
- 16 sites in United States, Australia and 6 more
- Volunteers
- 166 people
- Sponsor
- Novartis Pharmaceuticals
Retinitis Pigmentosa
Promising ROd-cone DYstrophy Gene therapY
This is a two-step, multicenter, Phase I/II study including an open-label dose-escalation phase (Step 1) and a three-arm, controlled, double-masked, randomized extension phase (Step 2), in subjects with advanced RCD due to a…
- Trial name
- PRODYGY (NCT05748873)
- Testing
- SPVN06
- Where
- 6 sites in United States, France
- Volunteers
- 33 people
- Sponsor
- SparingVision
Non-small Cell Lung Cancer
DZD9008 In Combination With Bevacizumab in Locally Advanced or Metastatic NSCLC Patients With EGFR Mutation (WU-KONG29)
This study tests a combination therapy (i.e., DZD9008 plus bevacizumab) in patients with advanced NSCLC harboring EGFR mutations who have progressed on or after standard of care, which aims to understand whether the combination…
- Trial name
- NCT06276283
- Testing
- DZD9008 plus Bevacizumab
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Dizal Pharmaceuticals
Advanced Solid Tumors, HER2 Mutation
A Study to Learn More About How Well Treatment With Sevabertinib (BAY 2927088) Tablets Works and How Safe it is in Participants Who Have a Solid Tumor With Mutations of the Human Epidermal Growth Factor Receptor 2 (HER2)
Researchers are looking for a better way to treat people who have solid tumors with HER2-activating mutations. Before a treatment can be approved for people to take, researchers do clinical trials to better understand its safety…
- Trial name
- panSOHO (NCT06760819)
- Testing
- BAY2927088
- Where
- 54 sites in United States, Australia and 9 more
- Volunteers
- 111 people
- Sponsor
- Bayer
Colorectal Cancer, Adenoma Colon
Liquid Biopsy and Machine Learning for Early Colorectal Cancer, Adenomas, Lynch Cancers, and Residual Disease Detection
This is an multicenter study that will test the diagnostic accuracy of a blood test (i.e., a liquid biopsy) for the diagnosis of colorectal cancer (CRC), advanced adenomas (AAs), as well as Lynch-syndrome associated cancers.
- Conditions
- Colorectal Cancer, Adenoma Colon, Adenoma Colon Polyp, Colon Adenoma
- Trial name
- BEACON (NCT07450612)
- Testing
- BEACON
- Where
- 4 sites in Italy
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- San Raffaele University
Cystic Fibrosis (CF)
Proof-of-concept Study to Evaluate the Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of SION-719 When Added to Trikafta
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of SION-719 when given to people with CF who are already taking Trikafta.
- Trial name
- PreciSION CF (NCT07108153)
- Testing
- SION-719
- Where
- 13 sites in United States, Australia
- Volunteers
- 15 people
- Sponsor
- Sionna Therapeutics Inc.
Head and Neck Cancer
Germline Mutations in Patients With Head and Neck Cancer and a Family History of Cancer
RATIONALE: Studying gene mutations in samples of DNA from patients with head and neck cancer and a family history of cancer may help doctors learn more about the development of cancer in families.
- Trial name
- NCT00482872
- Testing
- gene expression analysis, mutation analysis, polymerase chain reaction
- Where
- 3 sites in United States
- Volunteers
- 400 people
- Sponsor
- Vanderbilt University Medical Center
Cancer Genetics
Adaptation to Living With a BRCA1/2 Mutation
Background: Women who have a BRCA1/2 gene mutation have a very high risk of developing breast or ovarian cancer. They are also at increased risk of other developing other cancers.
- Trial name
- NCT01866865
- Where
- United States
- Volunteers
- 142 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Metastatic Squamous Neck Cancer With Occult Primary Squamous Cell Carcinoma
SF1126 in Recurrent or Progressive SCCHN and Mutations in PIK3CA Gene and/or PI-3 Kinase Pathway Genes
The purpose of this study is to test the good and bad effects of an experimental drug called SF1126. This drug is being tested in patients whose cancer has not been controlled by available standard therapies and who have certain…
- Trial name
- NCT02644122
- Testing
- SF1126
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Ezra Cohen