Clinical trials: Mutations
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Breast Cancer, DCIS
Robotic Nipple Sparing Mastectomy with Immediate Reconstruction
Aim of this trial is to verify whether the patients' quality of life can be improved by a less invasive surgical procedure and whether the use of robotic technique for nipple-sparing mastectomy associated to prepectoral direct…
- Conditions
- Breast Cancer, DCIS, BRCA Mutation
- Trial name
- NCT06860217
- Testing
- Robotic Nipple-Sparing Mastectomy
- Where
- Italy
- Volunteers
- 24 people
- Sponsor
- European Institute of Oncology
AML, Childhood, Relapse/Recurrence
Safety and Efficacy of Avapritinib in Relapsed or Refractory Pediatric CBF-AML With KIT Mutation
The purpose of this study is to evaluate the efficacy and safety of avapritinib in relapsed or refractory pediatric core binding factor acute myeloid leukemia with KIT mutation.
- Conditions
- AML, Childhood, Relapse/Recurrence, Refractory AML, Core Binding Factor Acute Myeloid Leukemia
- Trial name
- NCT06316960
- Testing
- Avapritinib, Azacitidine Injection, Decitabine Injection
- Where
- 12 sites in China
- Volunteers
- 50 people
- Sponsor
- Children's Hospital of Soochow University
Neurodegenerative Disease, Hereditary, Mitochondrial Diseases
Natural History Study of FDXR Mutation-related Mitochondriopathy
The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the ferredoxin reductase gene.
- Conditions
- Neurodegenerative Disease, Hereditary, Mitochondrial Diseases, Optic Atrophy
- Trial name
- NCT04580979
- Testing
- Mutation analysis
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- State University of New York at Buffalo
Prion Diseases
Therapeutic Antibodies Against Prion Diseases From PRNP Mutation Carriers
The human Prion diseases can be classified into sporadic, acquired and inherited forms. Inherited forms usually manifest in higher age so there have to be factors preventing Prion propagation in young mutation carriers.
- Trial name
- PRNP (NCT02837705)
- Testing
- blood draw
- Where
- 7 sites in United States, Austria and 5 more
- Volunteers
- 213 people, healthy volunteers welcome
- Sponsor
- University of Zurich
PIK3CA-Related Overgrowth Spectrum (PROS), Breast Neoplasms (Including Advanced or Metastatic Breast Cancer With PIK3CA Mutation)
Roll-Over Study of Alpelisib (BYL719) for Continued Access and Long-Term Safety.
The purpose of this study is to provide post-trial access to alpelisib and to assess its long-term safety when administered as a single agent or in combination with other drugs.
- Trial name
- EPIK-RO (NCT07679269)
- Testing
- Alpelisib, Fulvestrant, Trastuzumab
- Volunteers
- 51 people
- Sponsor
- Novartis Pharmaceuticals
Non-Small Cell Lung Cancer
An epidemiOlogy Study to deteRmine the Prevalence of EGFR (Epidermal Growth Factor Receptor) muTations in RUSsian Patients With Advanced NSCLC (Non-Small Cell Lung Cancer).
This is a multicentre, non-interventional, prospective study to be carried out in representative oncology departments / institutions in order to determine the prevalence of EGFR mutations in treatment-naive Russian patients with…
- Trial name
- ORTUS (NCT02321046)
- Where
- 26 sites in Russia
- Volunteers
- 26 people
- Sponsor
- AstraZeneca
EKLF Mutations in Beta Thalassemia Patients
Detection of Krupple Like Factor -1(KLF1/ EKLF) DNA Mutations in Beta Thalassemia Patients
Detection of KLF1 gene mutations in patients with beta thalassemia considering the alpha and beta molecular status of these patients.
- Trial name
- NCT06433570
- Testing
- multiplex PCR
- Volunteers
- 100 people
- Sponsor
- Assiut University
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia
FLT3 Gene Mutation, AML
The Efficacy of Triple Regimen in Newly Diagnosed AML Patients With FLT3 Mutation
The FMS tyrosine kinase 3 (FLT3) gene mutation occurs in 30% of newly diagnosed AML patients, leading to a higher relapse rate and mortality rate.
- Trial name
- FLT3AML-2024 (NCT06561880)
- Testing
- Venetoclax, Cytarabine, Gilteritinib
- Where
- China
- Volunteers
- 66 people
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Aniridia
Study of Ataluren in Participants With Nonsense Mutation Aniridia
This study is designed to evaluate the effect of ataluren on Maximum Reading Speed as measured using the Minnesota Low Vision Reading Test (MNREAD) Acuity Charts in participants with nonsense mutation aniridia.
- Trial name
- STAR (NCT02647359)
- Testing
- Ataluren
- Where
- 3 sites in United States, Canada
- Volunteers
- 39 people
- Sponsor
- PTC Therapeutics
Advanced Cancer
Study of Erlotinib in Combination With Bortezomib
The goal of this clinical research study is to find the highest tolerable dose of Tarceva (erlotinib hydrochloride) that can safely be given in combination with Velcade (bortezomib).
- Trial name
- NCT00895687
- Testing
- Erlotinib Hydrochloride, Bortezomib
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- M.D. Anderson Cancer Center
Optical Coherence Tomography (OCT) of the Retina, Mutation
Looking for VUS to Confirm Dominant Wolfram-like Syndrome Instead of Recessive Wolfram Syndrome
Looking for the pthogenicity of mutations of WFS1 gene for patients with mutation of the two alleles but a dominant phenotype
- Trial name
- VUS in Wolfram (NCT07485413)
- Where
- France
- Volunteers
- 45 people
- Sponsor
- Hôpital Necker-Enfants Malades
Quality of Life
French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and Hyperplastic Polyposis
French cohorte about polyposis digestive diseases
- Trial name
- NCT01987518
- Testing
- Procedure surgery behavioral and genetic diagnosis, quality of life after different type of surgery
- Where
- France
- Volunteers
- 350 people
- Sponsor
- Hôpital Edouard Herriot
X-Linked Retinitis Pigmentosa (XLRP)
Gene Therapy for RPGR Gene Mutation-associated X-linked Retinitis Pigmentosa
The aim of this study was to evaluate the safety, tolerability, and efficacy of one-time subretinal injection of FT-002 in male subjects (8-45 years of age) with RPGR (Retinitis Pigmentosa GTPase Regulator) gene…
- Trial name
- NCT06492850
- Testing
- FT-002
- Where
- China
- Volunteers
- 32 people
- Sponsor
- Frontera Therapeutics
Menin Inhibitors, Acute Leukemia
A Real-world Study on the Efficacy and Safety of Menin Inhibitors as Maintenance After Allo-HSCT
The objective of this observational study is to evaluate the efficacy and safety of menin inhibitor maintenance therapy in patients with acute leukemia who have undergone allogeneic hematopoietic stem cell transplantation…
- Conditions
- Menin Inhibitors, Acute Leukemia, Post Hematopoietic Stem Cell Transplantation, Maintenance Therapy
- Trial name
- NCT07559695
- Where
- China
- Volunteers
- 20 people
- Sponsor
- The First Affiliated Hospital of Soochow University
Exostoses, Multiple Hereditary
Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project
The investigator's goal for this project is to examine the causes of the wide variability of the expression of Hereditary Multiple Exostoses (HME).
- Trial name
- NCT00474331
- Where
- Canada
- Volunteers
- 2,000 people
- Sponsor
- University of British Columbia
Autism Spectrum Disorders
Susceptibility Genes in Autism Spectrum Disorders
The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development.
- Trial name
- NCT02628808
- Where
- 5 sites in France
- Volunteers
- 1,616 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Crohn's Disease, Ulcerative Colitis (UC)
A Blood and Tissue Sample Collection Study of Patients Who Have Inflammatory Bowel Disease, Who Have Been Treated With Adalimumab and Who Developed Hepatosplenic T-Cell Lymphoma
To collect and store blood and biopsy samples obtained from CD or UC patients exposed to adalimumab and diagnosed with Hepatosplenic T-cell Lymphoma (HSTCL), for the purpose of identifying potential biomarkers and genetic…
- Conditions
- Crohn's Disease, Ulcerative Colitis (UC), Hepatosplenic T-Cell Lymphoma
- Trial name
- HSTCL (NCT02087878)
- Where
- Italy
- Sponsor
- AbbVie
Ovarian Cancer
Olaparib +/- Cediranib or Chemotherapy in Patients With Platinum-resistant Ovarian Cancer
The trial will compare the drugs olaparib and cediranib with standard chemotherapy in platinum resistant ovarian cancer. Patients will be randomised to one of three treatment groups: olaparib only, olaparib and cediranib and the…
- Trial name
- OCTOVA (NCT03117933)
- Testing
- Olaparib, Cediranib, Paclitaxel
- Where
- 14 sites in United Kingdom
- Volunteers
- 139 people
- Sponsor
- University of Oxford