Clinical trials: Genetic Mutation
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
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
Muscular Dystrophy, Duchenne, Muscular Dystrophies
Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
This study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.
- Conditions
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- NCT03179631
- Testing
- Ataluren
- Where
- 64 sites in United States, Australia and 16 more
- Volunteers
- 360 people
- Sponsor
- PTC Therapeutics
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
Non Small Cell Lung Carcinoma
SELINE: Second-Line Iressa Phase IV Study in NSCLC Patients
The purpose of this study is to evaluate ORR (Objective Response Rate) of gefitinib as a second-line therapy for NSCLC patients based on RECIST (Response Evaluation Criteria in Solid Tumors Group) and check up ORR difference by…
- Trial name
- SELINE (NCT00608868)
- Testing
- Gefitinib
- Where
- South Korea
- Volunteers
- 156 people
- Sponsor
- AstraZeneca
Malignant Melanoma, Brain Metastases
E6201 Plus Dabrafenib for the Treatment of Metastatic Melanoma Central Nervous System Metastases (CNS)
This is a Phase 1 study of E6201 plus dabrafenib for the treatment of CNS metastases in BRAF V600-mutated metastatic melanoma. A total of up to N=28-34 subjects with melanoma metastasized to the CNS will be included.
- Trial name
- NCT03332589
- Testing
- E6201, E6201 plus dabrafenib
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Spirita Oncology, LLC
BRCA1 Mutation Carrier, BRCA2 Mutation Carrier
Transdermal or Oral Telapristone Acetate in Treating Patients Undergoing Mastectomy
This randomized trial studies transdermal or oral telapristone acetate in treating patients undergoing surgery to remove the breast (mastectomy).
- Conditions
- BRCA1 Mutation Carrier, BRCA2 Mutation Carrier, Ductal Breast Carcinoma In Situ, Lobular Breast Carcinoma In Situ
- Trial name
- NCT02314156
- Testing
- Telapristone Acetate, Laboratory Biomarker Analysis, Questionnaire Administration
- Where
- 3 sites in United States
- Volunteers
- 67 people
- Sponsor
- Northwestern University
Cystic Fibrosis
Study of VX-661 Alone and in Combination With Ivacaftor in Subjects Homozygous or Heterozygous to the F508del-Cystic Fibrosis Transmembrane Conductance Regulator(CFTR) Mutation
The purpose of this study is to evaluate the safety, efficacy, pharmacokinetics (PK), and pharmacodynamics (PD) effects of VX-661 alone and when coadministered with ivacaftor in participants with cystic fibrosis (CF) who are…
- Trial name
- NCT01531673
- Testing
- VX-661, Ivacaftor
- Where
- 36 sites in United States, Canada and 2 more
- Volunteers
- 194 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
FLT3 Gene Mutation Negative, FLT3 Internal Tandem Duplication Positive
Quizartinib With Azacitidine or Cytarabine in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia or Myelodysplastic Syndrome
This phase I/II trial studies the side effects and best dose of quizartinib when given in combination with azacitidine or cytarabine in treating patients with acute myeloid leukemia or myelodysplastic syndrome that have come back…
- Conditions
- FLT3 Gene Mutation Negative, FLT3 Internal Tandem Duplication Positive, Recurrent Acute Myeloid Leukemia, Recurrent Chronic Myelomonocytic Leukemia
- Trial name
- NCT01892371
- Testing
- Azacitidine, Cytarabine, Quizartinib
- Where
- United States
- Volunteers
- 73 people
- Sponsor
- M.D. Anderson Cancer Center
Cystic Fibrosis
A Study to Evaluate the Safety and Efficacy of VX-371 in Subjects With Cystic Fibrosis Who Are Homozygous for the F508del-CFTR Mutation
The purpose of this study is to evaluate the safety and efficacy of treatment with VX-371 in hypertonic saline compared to hypertonic saline alone in subjects with cystic fibrosis (CF) who are ≥12 years of age, homozygous for the…
- Trial name
- NCT02709109
- Testing
- VX-371 + HS, Hypertonic saline, Orkambi
- Where
- 40 sites in United States, France and 2 more
- Volunteers
- 147 people
- Sponsor
- Parion Sciences
Non Small Cell Lung Cancer, KRAS Gene Mutation
Trial of Trametinib and Ponatinib in Patients With KRAS Mutant Advanced Non-Small Cell Lung Cancer
The purpose of this study is to evaluate the safety of the combination of ponatinib and trametinib as well as the most appropriate dosages of the combination.
- Trial name
- NCT03704688
- Testing
- Trametinib 0.5 mg, Trametinib 1 MG, Trametinib 1.5 MG
- Where
- 7 sites in United States
- Volunteers
- 12 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Locally Advanced Bladder Urothelial Carcinoma, Metastatic Transitional Cell Carcinoma
Sapanisertib in Treating Patients With Locally Advanced or Metastatic Bladder Cancer With TSC1 and/or TSC2 Mutations
This pilot phase II trial studies how well sapanisertib works in treating patients with bladder cancer that has spread from where it started to nearby tissue or lymph nodes (locally advanced) or other places in the body…
- Conditions
- Locally Advanced Bladder Urothelial Carcinoma, Metastatic Transitional Cell Carcinoma, Metastatic Urothelial Carcinoma, Recurrent Bladder Carcinoma
- Trial name
- NCT03047213
- Testing
- Sapanisertib
- Where
- 20 sites in United States
- Volunteers
- 17 people
- Sponsor
- National Cancer Institute (NCI)
Metastatic Melanoma
A Study Evaluating the Safety and Efficacy of Cobimetinib Plus Atezolizumab in BRAFV600 Wild-type Melanoma With Central Nervous System Metastases and Cobimetinib Plus Atezolizumab and Vemurafenib in BRAFV600 Mutation-positive Melanoma With Central Nervous System Metastases
This study will evaluate the efficacy and safety of cobimetinib plus atezolizumab in participants with BRAFV600 wild-type melanoma with central nervous system (CNS) metastases and of cobimetinib plus atezolizumab and vemurafenib…
- Trial name
- NCT03625141
- Testing
- Cobimetinib, Atezolizumab, Vemurafenib
- Where
- 22 sites in Brazil, France and 6 more
- Volunteers
- 80 people
- Sponsor
- Hoffmann-La Roche
Melanoma
Dabrafenib With Trametinib in the Adjuvant Treatment of High-risk BRAF V600 Mutation-positive Melanoma (COMBI-AD).
This was a two-arm, randomized, double-blind Phase III study of dabrafenib in combination with trametinib versus 2 placebos in the adjuvant treatment of melanoma after surgical resection.
- Trial name
- COMBI-AD (NCT01682083)
- Testing
- Dabrafenib, Trametinib
- Where
- 168 sites in United States, Argentina and 23 more
- Volunteers
- 870 people
- Sponsor
- Novartis Pharmaceuticals
Duchenne Muscular Dystrophy
A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With Ataluren
This study is designed to generate additional data on the effect of ataluren for producing dystrophin protein in nonsense mutation nmDMD participants.
- Trial name
- NCT03796637
- Testing
- Ataluren
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- PTC Therapeutics
Metastatic Breast Cancer
Treatment of Metastatic Breast Cancer With Fulvestrant Plus Palbociclib or Tamoxifen Plus Palbociclib
To assess longitudinal changes in allele frequency of ESR1 mutation in plasma in patients treated with Fulvestrant plus palbociclib compared to tamoxifen plus palbociclib
- Trial name
- NCT02913430
- Testing
- Fulvestrant, Tamoxifen, Palbociclib
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Shannon Puhalla
Advanced Cancers
Phosphatidylinositol 3 Kinase and Mammalian Target of Rapamycin (PI3K-mTOR) in Advanced Cancer Patients
The goal of this clinical research study is to learn if temsirolimus can help to control advanced cancer in patients who also have a PI3K mutation and/or PTEN loss. The safety of this drug will also be tested.
- Trial name
- NCT00877773
- Testing
- Temsirolimus
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- M.D. Anderson Cancer Center
VHL Gene Mutation, VHL
MK-3795 (PT2385) for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma (MK-3795-003)
The primary objective of this study is to assess the overall response rate (ORR) of von Hippel-Lindau (VHL) disease-associated clear cell renal cell carcinoma (ccRCC) tumors in VHL participants treated with MK-3795.
- Conditions
- VHL Gene Mutation, VHL, VHL Syndrome, VHL Gene Inactivation
- Trial name
- NCT03108066
- Testing
- MK-3795
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Peloton Therapeutics, Inc., a subsidiary of Merck & Co., Inc. (Rahway, New Jersey USA)
Severe Familial Hypercholesterolemia
Trial Assessing Long Term USe of PCSK9 Inhibition in Subjects With Genetic LDL Disorders
A study to assess the long term safety and tolerability of evolocumab (AMG 145) in adolescents and adults with severe familial hypercholesterolemia.
- Trial name
- TAUSSIG (NCT01624142)
- Testing
- Evolocumab
- Where
- 44 sites in United States, Australia and 16 more
- Volunteers
- 300 people
- Sponsor
- Amgen