Clinical trials: Genetic Mutation
Retinitis Pigmentosa
Prospective Natural History Study of Retinitis Pigmentosa
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6a or PDE6b gene mutations.
- Trial name
- PHENOROD2 (NCT04285398)
- Testing
- Ophthalmic examinations, Mobility Test
- Where
- 2 sites in United States, France
- Volunteers
- 82 people
- Sponsor
- SparingVision
GNA11 Mutation-positive Metastatic Melanoma, GNAQ Mutation-positive Metastatic Melanoma
Efficacy and Safety Study of GSK1120212, a MEK Inhibitor, in Subjects With Uveal Melanoma
The purpose of this study is to determine whether GSK1120212, a MEK inhibitor, is an effective and safe treatment for cancer subjects with metastatic uveal melanoma and mutation-positive GNAQ or GNA11 metastatic melanoma.
- Conditions
- GNA11 Mutation-positive Metastatic Melanoma, GNAQ Mutation-positive Metastatic Melanoma, Cancer, Metastatic Uveal Melanoma
- Trial name
- NCT01328106
- Testing
- GSK1120212
- Sponsor
- GlaxoSmithKline
Radioiodine-refractory Differentiated Thyroid Cancer
A Real-World Study of Second-line Therapies Among Radioiodine-refractory Differentiated Thyroid Cancer (RAI-R DTC) Patients
This study aims to assess patient characteristics and treatment patterns of second-line systematic therapies, including BRAF V600E mutation-guided dabrafenib plus trametinib (D+T) and MKIs, among Chinese adult patients with RAI-R…
- Trial name
- NCT07770074
- Volunteers
- 200 people
- Sponsor
- Novartis Pharmaceuticals
EGFR Positive Non-small Cell Lung Cancer, Adenocarcinoma
Icotinib Versus Placebo as Adjuvant Therapy in EGFR-mutant Lung Adenocarcinoma
The purpose of this study is to compare 3years of disease-free survival (DFS) of Icotinib and placebo in the treatment of patients who EGFR mutation-positive II-IIIA lung adenocarcinoma.
- Trial name
- ICWIP (NCT02125240)
- Testing
- Icotinib
- Where
- 11 sites in China
- Volunteers
- 124 people
- Sponsor
- Betta Pharmaceuticals Co., Ltd.
Non-Small Cell Lung Cancer, Lung Cancer
A Study Investigating BG-60366 in Adults With Epidermal Growth Factor Receptor (EGFR)-Mutant Non-Small Cell Lung Cancer
This is an open-label, multicenter, Phase 1a/1b clinical study to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and preliminary antitumor activity of BG-60366, a highly potent, selective EGFR-mutation…
- Conditions
- Non-Small Cell Lung Cancer, Lung Cancer, NSCLC, NSCLC (Non-small Cell Lung Carcinoma)
- Trial name
- NCT06685718
- Testing
- BG-60366
- Where
- 29 sites in United States, Australia and 5 more
- Volunteers
- 33 people
- Sponsor
- BeOne Medicines
Gastrointestinal Cancer, Gastrointestinal Neoplasms
A Study of RGX-202-01 (Ompenaclid) as Combination Therapy in RAS Mutant Advanced Colorectal Cancer
This is a Phase 1 study currently evaluating PO administered ompenaclid in combination with FOLFIRI and bevacizumab in patients with advanced (i.e., locally advanced and unresectable, or metastatic) previously treated colorectal…
- Conditions
- Gastrointestinal Cancer, Gastrointestinal Neoplasms, Colorectal Cancer, Colorectal Neoplasms
- Trial name
- NCT03597581
- Testing
- ompenaclid, FOLFIRI, Bevacizumab
- Where
- 17 sites in United States
- Volunteers
- 89 people
- Sponsor
- Inspirna, Inc.
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
NSCLC
IN10018 Combination Therapy in Advanced EGFR Mutation-positive NSCLC
This is a multicenter, open-label, phase Ib/II clinical study to evaluate the safety, tolerability, pharmacokinetics and antitumor efficacy of IN10018 in combination with third-generation EGFR-TKI (Furmonertinib is the proposed)…
- Trial name
- NCT05994131
- Testing
- IN10018, Furmonertinib
- Where
- China
- Volunteers
- 110 people
- Sponsor
- InxMed (Shanghai) Co., Ltd.
Melanoma
A Study of AMNN107 in the Treatment of Metastatic and/or Inoperable Melanoma Harboring a c-Kit Mutation
The purpose of this study is to determine whether nilotinib is efficacious in the treatment of metastatic and/or inoperable melanoma harboring a c-Kit mutation.
- Trial name
- TEAM (NCT01028222)
- Testing
- Nilotinib, DTIC
- Where
- 49 sites in United States, Argentina and 12 more
- Volunteers
- 55 people
- Sponsor
- Novartis Pharmaceuticals
Non Small Cell Lung Cancer
Observational Study on the Management of Patients With Non Small Cell Lung Cancer Adenocarcinoma
The main objective of the study is to determine the proportion of patients with M + mutation status among patients with Non Small Cell Lung Cancer adenocarcinoma.
- Trial name
- MUTACT (NCT01167972)
- Where
- 101 sites in France
- Volunteers
- 2,000 people
- Sponsor
- AstraZeneca
Solid Tumors, Advanced Cancer
APL-101 Study of Subjects With NSCLC With c-Met EXON 14 Skip Mutations and c-Met Dysregulation Advanced Solid Tumors
To assess: efficacy of APL-101 as monotherapy for the treatment of NSCLC harboring MET Exon 14 skipping mutations, NSCLC harboring MET amplification, solid tumors harboring MET amplification, solid tumors harboring MET fusion…
- Conditions
- Solid Tumors, Advanced Cancer, Renal Cancer, Gastric Cancer
- Trial name
- SPARTA (NCT03175224)
- Testing
- APL-101 Oral Capsules
- Where
- 35 sites in United States, Australia and 9 more
- Volunteers
- 497 people
- Sponsor
- Apollomics Inc.
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this Phase 2 Open-label study is to evaluate the long-term safety and tolerability of Ultevursen administered via intravitreal injection (IVT) in participants with Retinitis Pigmentosa due to mutations in exon 13…
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- CAPELLA (NCT07796646)
- Testing
- No intervention, will not receive any active study intervention, Intravitreal Injection of Ultevursen
- Volunteers
- 81 people
- Sponsor
- Laboratoires Thea
Cystic Fibrosis
A Study of the Effects of Lumacaftor/Ivacaftor (LUM/IVA) on Exercise Tolerance in Subjects With Cystic Fibrosis (CF), Homozygous for the F508del-CFTR Mutation
This is a Phase 4, randomized, double-blind, placebo-controlled, parallel-group study in subjects aged 12 years and older with CF who are homozygous for the F508del-CFTR mutation.
- Trial name
- NCT02875366
- Testing
- LUM/IVA
- Where
- 12 sites in Australia, United Kingdom
- Volunteers
- 70 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Leukemia, Myeloid, Acute
HDM201 Added to CT in R/R or Newly Diagnosed AML
This is a multi-center open-label Phase I/II study investigating orally administered HDM201 in combination with chemotherapy in two populations: subjects with first line AML or subjects with relapsed/refractory AML.
- Trial name
- NCT03760445
- Testing
- HDM201, cytarabine, anthracycline
- Sponsor
- Novartis Pharmaceuticals
KRAS Mutation-Related Tumors, Metastatic Solid Tumor
A Study of Repotrectinib in Combination With Other Anticancer Therapies for the Treatment of Subjects With KRAS-Mutant Solid Tumors
A Phase 1b/2 Study of Repotrectinib in Combination with Other Anticancer Therapies for the Treatment of Subjects with KRAS-Mutant Advanced Solid Tumors (TRIDENT-2)
- Conditions
- KRAS Mutation-Related Tumors, Metastatic Solid Tumor, Advanced Solid Tumor
- Trial name
- NCT05071183
- Testing
- TPX-0005, Trametinib
- Where
- 6 sites in United States
- Volunteers
- 9 people
- Sponsor
- Turning Point Therapeutics, Inc.
Amino Acid Metabolism, Inborn Errors
Ataluren for Nonsense Mutation Methylmalonic Acidemia
Methylmalonic acidemia (MMA) is a rare genetic disorder caused by mutations in the gene for mitochondrial enzyme methylmalonyl-CoA mutase (MCM) or in one of the genes for adenosylcobalamin (AdoCbl).
- Trial name
- NCT01141075
- Testing
- Ataluren
- Where
- 9 sites in Belgium, France and 4 more
- Volunteers
- 11 people
- Sponsor
- PTC Therapeutics
Fabry Disease
Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease
The primary objective of this study was to compare the effect of migalastat (123 milligrams [mg] of migalastat [equivalent to 150 mg of migalastat hydrochloride]) (migalastat) versus placebo on kidney globotriaosylceramide (GL-3).
- Trial name
- NCT00925301
- Testing
- migalastat hydrochloride
- Where
- 28 sites in United States, Argentina and 11 more
- Volunteers
- 67 people
- Sponsor
- Amicus Therapeutics
Locally Advanced or Metastatic Conventional Chondrosarcoma With an IDH1 Mutation, Untreated or Previously Treated With 1 Systemic Treatment Regimen
Ivosidenib in Participants With Locally Advanced or Metastatic Conventional Chondrosarcoma Untreated or Previously Treated With 1 or 2 Systemic Treatment Regimens
Study CL3-95031-007 (CHONQUER) is a Phase 3, international, multicenter, double-blind, randomized, placebo-controlled study of orally administered ivosidenib.
- Trial name
- CHONQUER (NCT06127407)
- Testing
- Ivosidenib 500mg
- Where
- 115 sites in United States, Australia and 15 more
- Volunteers
- 156 people
- Sponsor
- Servier Bio-Innovation LLC
Cystic Fibrosis
Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of SPL84 in Patients With Cystic Fibrosis
The goal of this clinical trial is to learn if drug SPL84 is safe for adult patients with cystic fibrosis (CF). It will also learn if the drug works to treat works to treat CF with a specific mutation (3849 +10kb C-->T).
- Trial name
- NCT06429176
- Testing
- SPL84
- Where
- 3 sites in United States
- Volunteers
- 64 people
- Sponsor
- SpliSense Ltd.
Lung Cancer, Non Small Cell Lung Cancer
A Dose Escalation Study of HBI-2438 in Patients With Solid Tumors Harboring KRAS G12C Mutation
A Phase 1 dose escalation study in patients with advanced solid tumors harboring KRAS G12C mutation to determine the maximum tolerated dose and recommended Phase II dose of HBI-2438 and characterize its pharmacokinetic profile.
- Conditions
- Lung Cancer, Non Small Cell Lung Cancer, Colorectal Cancer, Cancer of Pancreas
- Trial name
- NCT05485974
- Testing
- HBI-2438
- Where
- 14 sites in United States, Puerto Rico
- Volunteers
- 44 people
- Sponsor
- HUYABIO International, LLC.
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