Clinical trials: Gene Mutations
Turner Syndrome, Short Stature Homeobox Gene Mutation
Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders
This basket trial will enroll prepubertal children and adolescents with clinically diagnosed and genetically confirmed (if applicable) TS, SHOX-D, SGA, or ISS between ages of ≥2 and <18 years with open growth plates.
- Conditions
- Turner Syndrome, Short Stature Homeobox Gene Mutation, Idiopathic Short Stature, Small for Gestational Age at Delivery
- Trial name
- NCT07221851
- Testing
- Lonapegsomatropin [SKYTROFA®], Somatropin Pen Injector
- Where
- 51 sites in United States, France and 5 more
- Volunteers
- 186 people
- Sponsor
- Ascendis Pharma A/S
Lung Neoplasm Malignant, Carcinoma, Non-Small-Cell Lung
(Concerto) Study of BLU-451 in Advanced Cancers With EGFR Exon 20 Insertion Mutations
This is a Phase 1/2, open-label first-in-human study of the safety, pharmacokinetics (PK), pharmacodynamics, and anti-tumor activity of BLU-451 monotherapy and BLU-451 in combination with platinum-based chemotherapy (carboplatin…
- Conditions
- Lung Neoplasm Malignant, Carcinoma, Non-Small-Cell Lung, Respiratory Tract Neoplasms, Neoplasms
- Trial name
- NCT05241873
- Testing
- BLU-451, Carboplatin, Pemetrexed
- Where
- 23 sites in United States, Canada and 3 more
- Volunteers
- 103 people
- Sponsor
- Blueprint Medicines Corporation
Lung Neoplasms, Lung Cancer, Nonsmall Cell
Therapeutic ResistAnce and Clonal Evolution Assessed With Liquid Biopsy of NSCLC Patients in China
To evaluate the concordance of sensitizing mutations detected between paired plasma and tissue samples; the correlation between the clonal status of sensitizing mutations and targeted therapy response; and the prognostic impact…
- Conditions
- Lung Neoplasms, Lung Cancer, Nonsmall Cell, Adenocarcinoma of Lung, Squamous Cell Lung Cancer
- Trial name
- NCT03059641
- Where
- 14 sites in China
- Volunteers
- 300 people
- Sponsor
- Geneplus-Beijing Co. Ltd.
Sickle Cell Disease
A Study to Investigate the Efficacy and Safety of Crizanlizumab (5 mg/kg) Compared With Placebo in Adolescent and Adult Sickle Cell Disease Patients Who Experience Frequent Vaso-Occlusive Crises (SPARKLE)
A phase III, multi-center, randomized, placebo-controlled, double-blind study to assess efficacy and safety of crizanlizumab (5 mg/kg) versus placebo, with or without hydroxyurea/hydroxycarbamide therapy, in adolescent and adult…
- Trial name
- SPARKLE (NCT06439082)
- Testing
- Crizanlizumab
- Where
- 36 sites in United States, Brazil and 3 more
- Volunteers
- 354 people
- Sponsor
- Novartis Pharmaceuticals
Advanced Solid Tumor (Phase 1), Pancreas Adenocarcinoma
A Study of IMM-6-415 in RAS/RAF Mutant Solid Tumors
This is a FIH, ascending dose study to characterize the safety, tolerability, optimal dose and preliminary anti-tumor activity of IMM-6-415 in participants with advanced or metastatic solid tumors harboring RAS or RAF oncogenic…
- Conditions
- Advanced Solid Tumor (Phase 1), Pancreas Adenocarcinoma, Non-small Cell Lung Cancer, Malignant Melanoma (Cutaneous)
- Trial name
- NCT06208124
- Testing
- IMM-6-415
- Where
- 5 sites in United States
- Volunteers
- 30 people
- Sponsor
- Immuneering Corporation
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
Leukemia, Myeloid, Acute
A Study of Bleximenib, Venetoclax and Azacitidine For Treatment of Participants With Newly Diagnosed Acute Myeloid Leukemia (AML)
The purpose of this study is to assess how bleximenib and Venetoclax (VEN)+ Azacitidine (AZA) works as compared to placebo and VEN+AZA alone for the treatment of participants with newly diagnosed Acute Myeloid Leukemia (AML) with…
- Trial name
- cAMeLot-2 (NCT06852222)
- Testing
- Bleximenib, Venetoclax (VEN), Azacitidine (AZA)
- Where
- 266 sites in United States, Australia and 23 more
- Volunteers
- 600 people
- Sponsor
- Janssen Research & Development, LLC
Thyroid Cancer, Squamous Cell Carcinoma Head and Neck Cancer (HNSCC)
Phase II Study of Tipifarnib in Squamous Head and Neck Cancer With HRAS Mutations
Phase II study to investigate the antitumor activity in terms of objective response rate (ORR) of tipifarnib in subjects with advanced tumors that carry HRAS mutations and for whom there is no standard curative therapy available.
- Conditions
- Thyroid Cancer, Squamous Cell Carcinoma Head and Neck Cancer (HNSCC), HRAS Mutant Tumor, Other Squamous Cell Carcinoma (SCC) With HRAS Mutant Tumor
- Trial name
- NCT02383927
- Testing
- Tipifarnib
- Where
- 35 sites in United States, Belgium and 8 more
- Volunteers
- 63 people
- Sponsor
- Kura Oncology, Inc.
Non-Small Cell Lung Cancer With HER2- Mutations
A Study of SHR-A1811 in First-line Treatment of Patients With Advanced or Metastatic Non-small Cell Lung Cancer With HER2 Mutations
The study is being conducted to evaluate the efficacy, and safety of SHR-A1811 versus Standard of Care as first-line treatment of advanced or metastatic Non-Small Cell Lung Cancer with HER2- Mutations
- Trial name
- NCT06430437
- Testing
- SHR-A1811, PD-1/PD-L1 inhibitors、Pemetrexed/ Paclitaxel、Carboplatin/ Cisplatin
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Jiangsu HengRui Medicine Co., Ltd.
Familial Amyloidotic Cardiomyopathy (FAC)
DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis
The purpose of this study is to characterize the frequency of TTR mutations in subjects suspected of having cardiac amyloidosis
- Trial name
- NCT02252653
- Where
- 58 sites in United States, Belgium and 4 more
- Volunteers
- 1,010 people
- Sponsor
- Alnylam Pharmaceuticals
Frontotemporal Dementia, FTD
A Study of PBFT02 in Participants With FTD and Mutations in the Granulin Precursor (GRN) or C9ORF72 Genes
PBFT02 is a gene therapy for frontotemporal dementia intended to deliver a functional copy of the GRN gene to the brain. This study will assess the safety, tolerability and efficacy of this treatment in patients with…
- Conditions
- Frontotemporal Dementia, FTD, FTD-GRN, Dementia Frontotemporal
- Trial name
- upliFT-D (NCT04747431)
- Testing
- PBFT02
- Where
- 10 sites in United States, Australia and 3 more
- Volunteers
- 30 people
- Sponsor
- Passage Bio, Inc.
PIK3CA Mutation-Related Tumors
A Study of WX390 in Patients With Advanced Solid Tumors With PIK3CA Mutations
The goal of this clinical trial is to evaluate the safety and preliminary efficacy of WX390 in patients with advanced solid tumors. The main question it aims to answer is: safety and preliminary efficacy in WX390 therapy.
- Trial name
- NCT06132932
- Testing
- WX390
- Where
- China
- Volunteers
- 38 people
- Sponsor
- Shanghai Jiatan Pharmatech Co., Ltd
Adnexal Mass, Germline BRCA1 Gene Mutation
Multifactorial Risk Assessment for Breast & Ovarian Cancer Risk Detection
The objective of this project is to validate a next-generation assay that utilizes both the protein biomarkers of our already established ovarian cancer risk assessment combined with a molecular profile in both germline and early…
- Conditions
- Adnexal Mass, Germline BRCA1 Gene Mutation, Germline BRCA2 Gene Mutation, Hereditary Breast and Ovarian Cancer
- Trial name
- OVA360 (NCT04668521)
- Testing
- OVA360
- Where
- United States
- Volunteers
- 215 people, healthy volunteers welcome
- Sponsor
- Aspira Women's Health
Neoplasms, Breast, Carcinoma of Breast
A Phase III Trial of Niraparib Versus Physician's Choice in HER2 Negative, Germline BRCA Mutation-positive Breast Cancer Patients
The purpose of this study is to compare progression-free survival (PFS) in patients with advanced/metastatic breast cancer who have a BRCA mutation when treated with niraparib as compared to those treated with physician's choice
- Conditions
- Neoplasms, Breast, Carcinoma of Breast, Human Epidermal Growth Factor 2 Negative Carcinoma of Breast, BRCA1 Gene Mutation
- Trial name
- BRAVO (NCT01905592)
- Testing
- niraparib, Physician's choice
- Where
- 104 sites in United States, Belgium and 12 more
- Volunteers
- 216 people
- Sponsor
- Tesaro, Inc.
Cystic Fibrosis
Study of VX-809 in Cystic Fibrosis Subjects With the ∆F508-CFTR Gene Mutation
The primary objective of the study was to evaluate the safety and tolerability of VX-809 in participants with cystic fibrosis (CF) who are homozygous for the F508del mutation on the CF transmembrane conductance regulator (CFTR)…
- Trial name
- NCT00865904
- Testing
- VX-809
- Where
- 25 sites in United States, Belgium and 3 more
- Volunteers
- 93 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Retinitis Pigmentosa, Usher Syndrome Type 2
Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this study is to evaluate the safety and tolerability of QR-421a administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.
- Conditions
- Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- Stellar (NCT03780257)
- Testing
- QR-421a
- Where
- 7 sites in United States, Canada and 1 more
- Volunteers
- 20 people
- Sponsor
- ProQR Therapeutics
Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia
Study of BMF-219, a Covalent Menin Inhibitor, in Adult Patients With AML, ALL (With KMT2A/ MLL1r, NPM1 Mutations), DLBCL, MM, and CLL/SLL
A Phase 1 first-in-human dose-escalation and dose-expansion study of BMF-219, an oral covalent menin inhibitor, in adult patients with AML, ALL (with KMT2A/ MLL1r, NPM1 mutations), DLBCL, MM, and CLL/SLL.
- Conditions
- Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia, Acute Mixed-Phenotype Leukemia, Cancer
- Trial name
- NCT05153330
- Testing
- BMF-219
- Where
- 41 sites in United States, Greece and 3 more
- Volunteers
- 55 people
- Sponsor
- Biomea Fusion Inc.
Advanced Cholangiocarcinoma, FGFR2 Gene Mutation
A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma
This is a multi-center, open label, single arm phase II study evaluating BGJ398 (infigratinib) anti-tumor activity in advanced or metastatic cholangiocarcinoma patients with fibroblast growth factor receptor (FGFR) genetic…
- Trial name
- NCT02150967
- Testing
- BGJ398 (infigratinib)
- Where
- 37 sites in United States, Belgium and 9 more
- Volunteers
- 143 people
- Sponsor
- QED Therapeutics, a BridgeBio company
GJB2-mediated Hearing Loss, GJB2 Gene Mutation
Open-label Study of SKY-GJB2 in Pediatric Subjects With GJB2-mediated Hearing Loss
Skylark Bio is conducting a study of an investigational new drug called SKY-GJB2 and its delivery device, the SKY-CAT. SKY-GJB2 is a gene therapy that is being developed to treat children who have hearing loss due to changes in…
- Conditions
- GJB2-mediated Hearing Loss, GJB2 Gene Mutation, DFNB1A
- Trial name
- SONIX (NCT07627971)
- Testing
- SKY-GJB2
- Where
- 4 sites in United States
- Volunteers
- 10 people
- Sponsor
- Skylark Bio Inc.
Metastatic Non-small Cell Lung Cancer
A Study to Investigate the Efficacy and Safety of Dato-DXd With or Without Osimertinib Compared With Platinum Based Doublet Chemotherapy in Participants With EGFR-Mutated Locally Advanced or Metastatic Non-Small Cell Lung Cancer
This study will assess the effect of Dato-DXd in combination with osimertinib or Dato-DXd monotherapy versus platinum-based doublet chemotherapy in terms of progression-free survival (PFS).
- Trial name
- TROPION-Lung15 (NCT06417814)
- Testing
- Dato-DXd, Osimertinib, Pemetrexed
- Where
- 211 sites in United States, Australia and 22 more
- Volunteers
- 768 people
- Sponsor
- AstraZeneca