Clinical trials: Mutations
Benign Breast Disease, Breast Cancer
Prolactin Receptor and Breast Diseases
Prolactin is known to play an important role in breast development and differentiation. Thus proliferative breast diseases are good models to unravel PRl / PRLR function in proliferative processes.
- Trial name
- Prolacsein (NCT00842465)
- Testing
- blood collection for hormonal status analysis, breast Biopsy or surgery, blood collection
- Where
- France
- Volunteers
- 735 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Inherited Retinal Dystrophy Due to RPE65 Mutations, Leber Congenital Amaurosis
Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
The study is a Phase 3, open-label, randomized controlled trial of gene therapy intervention by subretinal administration of AAV2-hRPE65v2 (voretigene neparvovec-rzyl).
- Trial name
- NCT00999609
- Testing
- AAV2-hRPE65v2,voretigene neparvovec-rzyl
- Where
- 2 sites in United States
- Volunteers
- 31 people
- Sponsor
- Spark Therapeutics, Inc.
Duchenne Muscular Dystrophy
Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD)
The objective of this study is to assess the safety and tolerability of 10, 10, 20 milligrams per kilogram (mg/kg) ataluren in participants with nmDBMD who had prior exposure to ataluren in a PTC sponsored clinical trial or…
- Trial name
- NCT01247207
- Testing
- Ataluren
- Where
- 34 sites in United States, Canada
- Volunteers
- 265 people
- Sponsor
- PTC Therapeutics
Acute Leukemia, KMT2A Rearrangements or NPM1 Mutations Acute Leukemia
BY002 IIT Study in R/R Acute Leukemia
This is a single-center, open-label, investigator-initiated phase 1 study designed to evaluate the safety, pharmacokinetics (PK), and preliminary efficacy of the menin inhibitor BY002 in patients with relapsed or refractory acute…
- Trial name
- NCT07270770
- Testing
- BY002
- Where
- China
- Volunteers
- 18 people
- Sponsor
- The First Affiliated Hospital of Soochow University
Cystic Fibrosis
Ivacaftor Treatment in 4 Month to 2 Year Old CF Subjects
The purpose of this research study is to determine the effects of clinically prescribed ivacaftor treatment on 4-24 month old children with CF and gating mutations on sleeping energy expenditure, growth status and gut health and…
- Trial name
- NCT03783286
- Testing
- Ivacaftor
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Children's Hospital of Philadelphia
Cystic Fibrosis
Study of Ivacaftor in Cystic Fibrosis Subjects 2 Through 5 Years of Age With a CFTR Gating Mutation
The purpose of this study is to evaluate the safety, pharmacokinetics (PK), and pharmacodynamics (PD), of ivacaftor in children with cystic fibrosis (CF) who are 2 through 5 years of age and have a CF Transmembrane Conductance…
- Trial name
- NCT01705145
- Testing
- Ivacaftor
- Where
- 20 sites in United States, Canada and 1 more
- Volunteers
- 35 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Non Small Cell Lung Cancer
Tipifarnib in Advanced Squamous NSCLC With Oncogen HRAS MutAtionS
This Phase II study consists of 2 parts: 1) pre-screening phase and 2) treatment phase. The pre-screening phase will investigate the presence of HRAS mutations in subjects with a histologically or cytologically confirmed…
- Trial name
- NCT03496766
- Testing
- Tipifarnib
- Where
- 30 sites in Spain
- Volunteers
- 9 people
- Sponsor
- Spanish Lung Cancer Group
Haematological Malignancy, Malignant Neoplasm
DETERMINE Trial Treatment Arm 01: Alectinib in Adult, Paediatric and Teenage/Young Adult Patients With ALK Positive Cancers
This clinical trial is looking at a drug called alectinib. Alectinib is approved as standard of care treatment for adult patients with certain types of lung cancer.
- Conditions
- Haematological Malignancy, Malignant Neoplasm, Lymphoproliferative Disorders, Neoplasms by Histologic Type
- Trial name
- DETERMINE (NCT05770037)
- Testing
- Alectinib
- Where
- 27 sites in United Kingdom
- Volunteers
- 30 people
- Sponsor
- Cancer Research UK
Vascular Dysfunction, Genetic Mutations
Vascular Disease Discovery Protocol
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels.
- Conditions
- Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
- Trial name
- NCT03538639
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Non-Small Cell Lung Cancer
KOREA Study (Korea Osimertinib Real World Evidence Study to Assess Safety and Efficacy)
The objectives of this study are to assess the safety and efficacy of single agent Tagrisso (Osimertinib, hereinafter "the study drug") in a real world setting in adult patients with advanced or metastatic, epidermal growth…
- Trial name
- KOREA (NCT02777567)
- Where
- South Korea
- Volunteers
- 315 people
- Sponsor
- AstraZeneca
Hereditary Multiple Melanoma, Melanoma (Skin)
Identifying Gene Mutations in Patients With Melanoma and in Families With a History of Hereditary Melanoma
RATIONALE: Identifying gene mutations and other risk factors in patients with melanoma and in families with a history of hereditary melanoma may help doctors identify persons at risk for melanoma and other types of cancer.
- Trial name
- NCT00450593
- Testing
- gene expression analysis, microarray analysis, molecular genetic technique
- Where
- United Kingdom
- Volunteers
- 5,000 people
- Sponsor
- Leeds Cancer Centre at St. James's University Hospital
Grade 2 Astrocytoma or Oligodendroglioma With an IDH1 or IDH2 Mutation
Vorasidenib Study in Pediatric Participants With Grade 2 Astrocytoma or Oligodendroglioma With an IDH1 or IDH2 Mutation
The objective of this study is to evaluate the safety, tolerability, efficacy profile, and effect on growth and development of vorasidenib in pediatric participants aged 12 to < 18 years old with grade 2 glioma with an IDH1 or…
- Trial name
- NCT07286292
- Testing
- Vorasidenib
- Where
- 5 sites in United States, Australia
- Volunteers
- 10 people
- Sponsor
- Institut de Recherches Internationales Servier (I.R.I.S.)
Pentalogy of Cantrell, Mutations in Non-muscle Genes
Genes Mutation Pentalogy of Cantrell
This study will collect blood, urine, and other tissue samples from 50 patients study-wide with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle genes.
- Trial name
- NCT00477932
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Children's Healthcare of Atlanta
Leber Congenital Amaurosis 10, Blindness
Extension Study to Study PQ-110-001 (NCT03140969)
Subjects completing participation in study PQ-110-001 (EudraCT 2017-000813-22 / NCT03140969) will be given the opportunity to enroll into the extension study for continued dosing if available data support current and/or future…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- INSIGHT (NCT03913130)
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 9 people
- Sponsor
- Laboratoires Thea
Retinal Dystrophy, Cone-Rod, Cone Dystrophy
Study of New Mutations in Cone Disorders
High throughput sequencing gives the opportunity to improve the genetic diagnosis for patients suffering from retinal dystrophies and specially from cone disorders.
- Conditions
- Retinal Dystrophy, Cone-Rod, Cone Dystrophy, Cone Rod Dystrophy, Macular Degeneration
- Trial name
- INTROCONE (NCT04658251)
- Testing
- Blood and/or skin biopsy
- Where
- France
- Volunteers
- 7 people
- Sponsor
- University Hospital, Lille
Malignant Melanoma
Study Of Zelboraf (Vemurafenib) in Patients With Locally-Advanced, Unresectable, Stage IIIc Or Metastatic Melanoma and Activating Exon 15 BRAF Mutations Other Than V600E
This is an open-label, multicenter, single-agent, phase II study of continuous oral Zelboraf (vemurafenib) in participants with locally-advanced, unresectable, stage IIIc or metastatic melanoma and activating exon 15 BRAF…
- Trial name
- NCT01586195
- Testing
- Vemurafenib
- Where
- 15 sites in United States
- Volunteers
- 31 people
- Sponsor
- Genentech, Inc.
Neuroaxonal Dystrophy, Atypical
Phenotypic Description of Patients With Atypical Clinical Forms of PLA2G6 Mutations
Mutations in the PLA2G6 gene are well known in the classical phenotype called infantile neuro-axonal dystrophy (INAD), a severe neurodegenerative disease starting in infancy with homogeneous clinical, radiological…
- Trial name
- ATYPICPLA2G6 (NCT05440994)
- Where
- 7 sites in France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Clermont-Ferrand
Retinitis Pigmentosa, Leber Congenital Amaurosis
Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa and Leber Congenital Amaurosis
This is a Phase 1/2 Study to Assess the Safety and Efficacy of OCU400 in patients with retinitis pigmentosa associated with NR2E3 and RHO mutations and in patients with LCA due to mutation(s) in CEP290 gene (OCU400-101).
- Trial name
- NCT05203939
- Testing
- OCU400 Low Dose, OCU400 Med Dose, OCU400 High Dose
- Where
- 7 sites in United States
- Volunteers
- 22 people
- Sponsor
- Ocugen
Neoplastic Syndromes, Hereditary, Cancer
Cancer Predisposition Testing by Family-based Whole-genome Sequencing (WGS) in Every Child With Newly Diagnosed Cancer
Assessment of the utility of family-based (trio) whole-genome sequencing for cancer predisposition testing in sequential newly diagnosed paediatric and adolescent cancer patients
- Conditions
- Neoplastic Syndromes, Hereditary, Cancer, Genetic Predisposition to Disease
- Trial name
- PREDICT (NCT04903782)
- Testing
- Family-based whole genome sequencing
- Where
- 3 sites in Australia
- Volunteers
- 270 people
- Sponsor
- Sydney Children's Hospitals Network
Fanconi Anemia
Prognostic Significance of Mutation Type and Chromosome Fragility in Fanconi Anemia
The goal of this observational study is to analyze the data included in the Spanish Registry of Patients with Fanconi anemia to better understand the natural history of the disease, identify genetic risk and prognostic factors…
- Trial name
- NCT06490510
- Where
- Spain
- Volunteers
- 227 people
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau