Clinical trials: Gene Mutations
Mutations in Exons 18 to 21
Pathomolecular Analysis of Rare EGFR Mutations in Advanced NSCLC
While current mutational analyses comprise exons 19 and 21 in which the majority of EGFR-mutations occur, this study aims at investigating the relevance of exon 18 and 20 mutations.
- Trial name
- NCT01215474
- Where
- Germany
- Volunteers
- 500 people
- Sponsor
- Provitro GmbH
Non-Small-Cell Lung Carcinoma
Frequency of EGFR Mutations in Latinos/Hispanics With Non-Small Cell Lung Cancer
Background: Research has shown that the Epidermal Growth Factor Receptor (EGFR) gene is an important target for personalized lung cancer treatment.
- Trial name
- NCT01255150
- Where
- 12 sites in United States, Bolivia and 3 more
- Volunteers
- 15 people
- Sponsor
- National Cancer Institute (NCI)
Infection, Human Immunodeficiency Virus I, HIV Infection
Observational Study Of A Protease Inhibitor (PI) Containing Regimen In Subjects With PI Mutations Selected During Prior Treatment With GW433908 (Fosamprenavir)
This study will assess the efficacy of subsequent protease inhibitor (PI)-containing therapy in subjects who have acquired HIV-1 protease mutations whilst receiving a GW433908 (fosamprenavir)-containing regimen.
- Trial name
- NCT00242840
- Testing
- No intervention; Observational study
- Where
- 7 sites in United States, Italy
- Volunteers
- 20 people
- Sponsor
- ViiV Healthcare
Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Gene Mutations
Reduced-Intensity Conditioning Before Donor Stem Cell Transplant in With High-Risk Hematologic Malignancies
This phase II trial studies reduced-intensity conditioning before donor stem cell transplant in treating patients with high-risk hematologic malignancies.
- Conditions
- Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Gene Mutations, Acute Myeloid Leukemia With Inv(3) (q21.3;q26.2); GATA2, MECOM, Acute Myeloid Leukemia With t(6;9) (p23;q34.1); DEK-NUP214
- Trial name
- NCT01760655
- Testing
- Fludarabine phosphate, Busulfan, Total-Body Irradiation
- Where
- United States
- Volunteers
- 62 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Thomas Jefferson University
Gene Mutation in Infantile Onset Diabetes Mellitus
Genetic Study for Infantile Onset Diabetes Mellitus
Diabetes mellitus is a group of metabolic diseases characterized by chronic hyperglycemia resulting from defects in insulin secretion, insulin action, or both.
- Trial name
- NCT03519217
- Where
- Egypt
- Volunteers
- 60 people
- Sponsor
- Shimaa Kamal
Charcot Marie Tooth Disease, DIFGAN
Genotype/Phenotype Correlation of MORC2 Mutations
The Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all tissues and enriched in the brain. It is involved in Charcot-Marie-Tooth disease, with mire than 30 families presenting MORC2 mutations.
- Conditions
- Charcot Marie Tooth Disease, DIFGAN, Developmental Delay (Disorder), Impaired Growth
- Trial name
- PhenoMORC2 (NCT07038239)
- Testing
- Skin biopsy, Blood sample
- Where
- 12 sites in France
- Volunteers
- 45 people
- Sponsor
- Hospices Civils de Lyon
Leber Congenital Amaurosis 10, Blindness
An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
PQ-110-005 (BRIGHTEN) is an open-label, dose escalation and double-masked, randomized, controlled study evaluating safety and tolerability of sepofarsen administered via intravitreal (IVT) injection in pediatric subjects (<8…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- BRIGHTEN (NCT04855045)
- Testing
- sepofarsen
- Where
- 9 sites in Belgium, Brazil and 5 more
- Volunteers
- 15 people
- Sponsor
- ProQR Therapeutics
Amaurosis of Leber, Retinal Diseases
Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations
A recombinant adeno-associated virus serotype 2 (rAAV2) vector has been altered to carry the human RPE65 (hRPE65) gene. This vector has been shown to restore vision in animal models that resemble human RPE65-associated Leber…
- Trial name
- LCA (NCT00481546)
- Testing
- rAAV2-CBSB-hRPE65
- Where
- 2 sites in United States
- Volunteers
- 15 people
- Sponsor
- University of Pennsylvania
Hearing Loss
Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation
Disequilibrium between acid and base in the inner ear was suggested to be an important factor leading to hearing impairment associated with SLC26A4 mutations.
- Trial name
- NCT00789061
- Testing
- Proton pump inhibitor
- Where
- Taiwan
- Volunteers
- 120 people
- Sponsor
- National Taiwan University Hospital
HIV/AIDS
Characteristics and Outcomes of Patients Who Received Etravirine and/or Darunavir
The objectives of this data collection activity are to: 1. Describe the baseline demographics, clinical and laboratory profile of patients who ever received darunavir (DRV) and/or etravirine (ETR), at the time of initiation on…
- Trial name
- NewHorizon (NCT04194021)
- Where
- 5 sites in Cameroon, Eswatini and 3 more
- Volunteers
- 871 people, healthy volunteers welcome
- Sponsor
- Elizabeth Glaser Pediatric AIDS Foundation
Pentalogy of Cantrell
Mutations in Genes Associated With Pentalogy of Cantrell
This study will collect blood, urine, and other tissue samples from patients with Pentalogy of Cantrell (POC) and other inherited diseases that may involve mutations in non-muscle myosin II-B heavy chain (MYH10).
- Trial name
- NCT00083499
- Where
- 2 sites in United States
- Volunteers
- 59 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Childhood Alveolar Soft-part Sarcoma, Childhood Angiosarcoma
Studying Genes in Tissue Samples From Younger and Adolescent Patients With Soft Tissue Sarcomas
This research trial studies genes in tissue samples from younger and adolescent patients with soft tissue sarcomas. Studying samples of tumor tissue from patients with cancer in the laboratory may help doctors learn more about…
- Conditions
- Childhood Alveolar Soft-part Sarcoma, Childhood Angiosarcoma, Childhood Desmoplastic Small Round Cell Tumor, Childhood Epithelioid Sarcoma
- Trial name
- NCT01567046
- Testing
- laboratory biomarker analysis
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- Children's Oncology Group
Junctional Epidermolysis Bullosa
Optimizing IV Gentamicin in JEB
Herlitz junctional epidermolysis bullosa (H-JEB), an incurable and fatal inherited skin disease, is caused by loss-of-function mutations in LAMA3, LAMB3 and LAMC2.
- Trial name
- NCT04140786
- Testing
- Gentamicin Sulfate, Injectable
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Southern California
Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia
Natural History Study of Patients with HPDL Mutations
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
- Conditions
- Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease
- Trial name
- NCT05848271
- Testing
- Patient Registry, Dry blood spots sampling
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of California, San Diego
Cystic Fibrosis
Energy Balance and Weight Gain With Ivacaftor Treatment
Ivacaftor is a novel, FDA approved new therapy that addresses Cystic fibrosis transmembrane conductance regulator (CFTR) dysfunctions in subjects with Cystic fibrosis (CF) and "gating mutations".
- Trial name
- NCT02141464
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Children's Hospital of Philadelphia
Nephrotic Syndrome
Study of The Association of Mutations in The NPHS2 Gene and Nephrotic Syndrome in Children and Adults in Middle East
Nephrotic syndrome (NS) represents one of the most common diagnoses in pediatric and adult nephrology, with a prevalence of 16 per 100,000 children and 3 per 100,000 adults in Western countries.
- Trial name
- NCT03326037
- Testing
- Genotyping of the NPHS2 variant rs61747728
- Where
- Kuwait
- Volunteers
- 150 people
- Sponsor
- AHMED ABDULQADER HAMMOUDA ABOU SHALL
Menin Inhibitors, Post Hematopoietic Stem Cell Transplantation
Phase 2 Trial of BN104 as Post-HSCT Maintenance in Acute Leukemia
This is a phase 2, open label, single arm trial. This study aims to assess the efficacy and safety of menin inhibitor BN104 as maintenance therapy in patients with acute leukemia harboring specific genetic alterations who have…
- Conditions
- Menin Inhibitors, Post Hematopoietic Stem Cell Transplantation, Maintenance Therapy, Acute Leukemia
- Trial name
- NCT07101497
- Testing
- BN104 monotherapy
- Where
- China
- Volunteers
- 60 people
- Sponsor
- The First Affiliated Hospital of Soochow University
APDS Gene Mutation
An Open-Label Study to Assess the Safety & Efficacy of Leniolisib in Japanese Patients With APDS
An Open-Label, Non-Randomized Study to Assess the Safety and Efficacy of Leniolisib in Japanese Patients With Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Followed By an Open-Label Long-Term Extension.
- Trial name
- NCT06249997
- Testing
- Leniolisib
- Where
- 2 sites in Japan
- Volunteers
- 3 people
- Sponsor
- Pharming Technologies B.V.
Sensorineural Hearing Loss, Bilateral
Gene Therapy Trial for Otoferlin Gene-mediated Hearing Loss
Part A of this trial evaluated the safety and tolerability of a single surgical administration procedure in one or both ear(s) with one of two dose levels of AAVAnc80-hOTOF (LY888891) and evaluated the Akouos Delivery Device…
- Trial name
- NCT05821959
- Testing
- AAVAnc80-hOTOF via Akouos Delivery Device, AAVAnc80-hOTOF via Akouos Delivery Device and Precision Delivery Mechanism
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 48 people
- Sponsor
- Eli Lilly and Company
Dyspepsia
Antibiotic Resistant Helicobacter Pylori in Rajavithi Hospital
Peptic ulcer disease is the most common gastrointestinal disease. Antibiotic resistant Helicobacter pylori is a major problem worldwide.
- Trial name
- NCT00285688
- Testing
- gastroscopic examination
- Where
- Thailand
- Volunteers
- 200 people
- Sponsor
- Department of Medical Services Ministry of Public Health of Thailand