Clinical trials: Mutations
MELAS Syndrome, Mitochondrial Diseases
Ketones & Mitochondrial Heteroplasmy
The current study is a prospective evaluation of the ability of ketosis to shift mitochondrial DNA (mtDNA) heteroplasmy in subjects harboring a known mutation in their mtDNA at position 3243 (A>G).
- Trial name
- NCT01252979
- Testing
- Medium-Chain Triglycerides
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- The University of Texas Health Science Center, Houston
NSCLC
A Retrospective Molecular Epidemiology Study in Singapore Patients With Advanced Non Small Cell Lung Cancer (NSCLC) of Adenocarcinoma Histology to Assess Epidermal Growth Factor Receptor (EGFR) Mutation Status
To determine EGFR mutation status in patients with advanced stage adenocarcinoma NSCLC. To determine the association between EGFR mutation status and demographic data in advanced stage adenocarcinoma NSCLC patients.
- Trial name
- NCT01100827
- Testing
- EGFR mutation status in patients
- Where
- Singapore
- Sponsor
- National University Hospital, Singapore
Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer
MyVHL: Patient Natural History Study
MyVHL is a multi-patient database which helps researchers identify patterns across VHL patients. MyVHL provides you -and researchers -with more complete information about VHL, like how your lifestyle, medications, and other…
- Conditions
- Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, SDHB Gene Mutation
- Trial name
- MyVHL (NCT03749980)
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Joshua Mann, MPH
Recessive Dystrophic Epidermolysis Bullosa
Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients
Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable, devastating, inherited skin disease for which there is only supportive care.
- Trial name
- NCT02698735
- Testing
- Gentamicin
- Volunteers
- 5 people
- Sponsor
- University of Southern California
Breast Cancer
Mutation of BRCA1/2 and Other Potential Genes in Triple-negative Breast Cancer
The study is to determine the prevalence of potential chemo-response related genes mutation in TNBC patients between pCR and SD/PD group, which achieved after NAC; and to evaluate potential relationship between these gene…
- Trial name
- NCT02670668
- Testing
- Mutation analysis
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Fudan University
Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Childhood Non-Hodgkin Lymphoma
Selumetinib Sulfate in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial)
This phase II Pediatric MATCH trial studies how well selumetinib sulfate works in treating patients with solid tumors, non-Hodgkin lymphoma, or histiocytic disorders with MAPK pathway activation mutations that have spread to…
- Conditions
- Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Childhood Non-Hodgkin Lymphoma, Ann Arbor Stage IV Childhood Non-Hodgkin Lymphoma, Recurrent Childhood Central Nervous System Neoplasm
- Trial name
- NCT03213691
- Testing
- Laboratory Biomarker Analysis, Selumetinib, Selumetinib Sulfate
- Where
- 110 sites in United States, Puerto Rico
- Volunteers
- 21 people
- Sponsor
- National Cancer Institute (NCI)
Thrombosis
Thrombophilic Risk Factors in Pediatric Patients Diagnosed at the Ha'Emek Medical Center
The study will assess the clinical and laboratory data of about 100 pediatric patients diagnosed and treated at the Pediatric Hematology Unit during the years 1980 until 2007 because of thrombotic events.
- Trial name
- NCT00736008
- Testing
- Observational
- Where
- Israel
- Volunteers
- 100 people
- Sponsor
- HaEmek Medical Center, Israel
Epileptic Syndromes
Electro-clinical Features and Functional Connectivity Analysis in SYN1 Gene Mutation-related Epilepsy
SYN1 gene mutation is an X-linked gene mutation that causes numerous pathological manifestations such as seizures and neurodevelopmental disorders.
- Trial name
- NCT06222840
- Testing
- Electro-clinical analysis of epileptic seizures, Electro-encephalographic cases, Clinical datas analysis
- Where
- France
- Volunteers
- 75 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Pediatric Philadelphia Chromosome-positive Acute Lymphoblastic Leukemia (Ph+ALL), Ph+ Mixed Phenotype Acute Leukemia (MPAL)
A Study of Ponatinib With Chemotherapy in Children, Teenagers, and Adults With Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia
This study is about an anticancer drug called ponatinib which is a tyrosine kinase inhibitor given with chemotherapy to children, teenagers, and young adults up to 21 years of age with Philadelphia Chromosome-Positive Acute…
- Conditions
- Pediatric Philadelphia Chromosome-positive Acute Lymphoblastic Leukemia (Ph+ALL), Ph+ Mixed Phenotype Acute Leukemia (MPAL), Philadelphia Chromosome-Like ALL (Ph-like ALL)
- Trial name
- NCT04501614
- Testing
- Ponatinib, Chemotherapy Agents
- Where
- 64 sites in United States, Argentina and 13 more
- Volunteers
- 11 people
- Sponsor
- Takeda
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)
Retinoblastoma, Secondary Primary Malignancies After Retinoblastoma
New Strategies to Detect Cancers in Carriers of Mutations in RB1
Rationale: Individuals with a cancer predisposition due to a mutation in the paradigm tumor suppressor gene RB1, have a high risk to develop the childhood cancer retinoblastoma (Rb).
- Trial name
- NIRBTEST (NCT04164134)
- Testing
- blood draw
- Where
- 3 sites in France, Germany and 1 more
- Volunteers
- 378 people, healthy volunteers welcome
- Sponsor
- Amsterdam UMC, location VUmc
Acute Myeloid Leukemia
FLT3-ITD Gene Mutation and CD135 Expression in Acute Myeloid Leukemia.
1. To evaluate expression levels of CD135 2. To assess the frequency of FLT3 gene mutations (ITD) 3. association between FLT3-ITD mutation and CD135 expression and their correlation with hematological, immunophenotypic,and…
- Trial name
- NCT05383014
- Volunteers
- 82 people
- Sponsor
- Assiut University
Cystic Fibrosis
A Study to Evaluate Efficacy and Safety of Ivacaftor in Subjects With Cystic Fibrosis Aged 3 Through 5 Years Who Have a Specified CFTR Gating Mutation
To evaluate the efficacy of ivacaftor treatment, as measured by lung clearance index (LCI), in subjects with cystic fibrosis (CF) who have a specified CF transmembrane conductance regulator (CFTR) gating mutation
- Trial name
- NCT02742519
- Testing
- ivacaftor
- Where
- 6 sites in Australia, Canada and 1 more
- Volunteers
- 14 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Non Small Cell Lung Cancer
A Non-interventional Study (NIS) Registry for the Epidemiological and Scientific Evaluation of Epidermal Growth Factor Receptor (EGFR) Mutation Status in Patients With Newly Diagnosed Locally Advanced or Metastatic Non Small Cell Lung Cancer (NSCLC) (Stage IIIB/IV Non-small Cell Lung Cancer).
The primary objective of the study is to collect epidemiological data on EGFR mutation status [M+(mutation positive), M-(mutation negative)] in a population of predominantly Caucasian ethnicity, and to correlate EGFR mutation…
- Trial name
- REASON (NCT01153399)
- Where
- 9 sites in Greece
- Volunteers
- 589 people
- Sponsor
- AstraZeneca
Retinitis Pigmentosa (RP)
Retrospective 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
- PHENOROD1 (NCT03975543)
- Where
- France
- Volunteers
- 113 people
- Sponsor
- SparingVision
Retinitis Pigmentosa, Usher Syndrome Type 2
An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
PQ-421a-002 (Helia) is an open-label, extension study to evaluate the safety, tolerability and efficacy of QR 421a (ultevursen) administered via intravitreal (IVT) injection in one or both eyes, in subjects ≥ 12 years of age with…
- Trial name
- HELIA (NCT05085964)
- Testing
- RNA antisense oligonucleotide for intravitreal injection
- Where
- 7 sites in United States, Canada and 1 more
- Volunteers
- 21 people
- Sponsor
- Laboratoires Thea
Astrocytoma, Glioblastoma
Detecting Malignant Brain Tumor Cells in the Bloodstream During Surgery to Remove the Tumor
Glioblastomas, the most frequent malignant brain tumor in adults, are widespread in the brain, despite their discrete appearance on computed tomography (CT) or magnetic resonance imaging (MRI).
- Conditions
- Astrocytoma, Glioblastoma, Glioma
- Trial name
- NCT00001148
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Leber Congenital Amaurosis 10, Blindness
A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)
The purpose of this double-masked, randomized, controlled, multiple-dose study is to evaluate the efficacy, safety, tolerability and systemic exposure of sepofarsen (QR-110) administered via intravitreal injection in subjects…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- ILLUMINATE (NCT03913143)
- Testing
- sepofarsen
- Where
- 14 sites in United States, Belgium and 7 more
- Volunteers
- 36 people
- Sponsor
- ProQR Therapeutics
Cardiomyopathy, Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
The purpose of this trial is to study the genetic and phenotypic aspects of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C), and determine the impact of genetic testing in clinical practice.
- Trial name
- DVDA (NCT00999947)
- Where
- France
- Volunteers
- 351 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Shwachman-Diamond Syndrome, SDS
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe…
- Conditions
- Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia
- Trial name
- SDS-GPS (NCT06999954)
- Where
- United States
- Volunteers
- 8,000 people
- Sponsor
- Shwachman-Diamond Syndrome Alliance Inc