Clinical trials: Mutation
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
Hypersensitivity, Immediate, Insect Bites and Stings
The Significance of Blood-tryptase and c-Kit Mutation in Insect Venom Immunotherapy
The investigators wish to evaluate the association between tryptase values as well as c-Kit mutation and adverse effects in the course of immunotherapy.
- Conditions
- Hypersensitivity, Immediate, Insect Bites and Stings, Mastocytosis
- Trial name
- NCT02503800
- Where
- Israel
- Volunteers
- 159 people
- Sponsor
- Meir Medical Center
Acute Leukemia, Relapsed or Refractory Pediatric Leukemia
Menin Inhibitors in Pediatric Relapsed or Refractory Acute Leukemia
Acute leukemia is the most common childhood cancer. Despite advances in targeted therapies and immunotherapies, treatment remains challenging for children with relapsed or refractory acute leukemia, particularly those with KMT2A…
- Conditions
- Acute Leukemia, Relapsed or Refractory Pediatric Leukemia, KMT2A-rearranged, NUP98-rearranged, or NPM1-mutated Leukemia, Menin Inhibitor Treatment
- Trial name
- MENIN-PED (NCT07898436)
- Where
- France
- Volunteers
- 10 people
- Sponsor
- University Hospital, Strasbourg, France
Pleuropulmonary Blastoma, Cystic Nephroma
DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study
Background: Pleuropulmonary blastoma (PPB) is a rare fast-growing lung tumor that is associated with other, rare tumor types. Most cases of PPB appear in children younger than 6 years of age.
- Conditions
- Pleuropulmonary Blastoma, Cystic Nephroma, Ovarian Sertoli-Leydig Cell Tumors, Ocular Medulloepithelioma
- Trial name
- NCT01247597
- Where
- 2 sites in United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Cystic Fibrosis
G551D Observational Study- Expanded to Additional Genotypes and Extended for Long Therm Follow up (GOAL-e2)
The goal of this research study is to collect blood and urine samples from people who have either the R117H type of CF or the non-G551D gating type of CF to be kept for future research.We will also use some of the collected blood…
- Trial name
- GOAL- e2 (NCT01521338)
- Where
- 36 sites in United States
- Volunteers
- 120 people
- Sponsor
- Steven M Rowe
Neurodegenerative Diseases
Study of Neurodegenerative Diseases Induced Stem Cells in Patients and Healthy Family Controls.
Neurological and neurodegenerative diseases have a major impact in families and in the national health service due to the lack in many cases of effective and long-lasting therapies.
- Trial name
- NeuronsiPS (NCT03682458)
- Testing
- Study of Neurodegenerative Diseases Induced Stem Cells
- Where
- Italy
- Volunteers
- 50 people
- Sponsor
- Neuromed IRCCS
BRAF V600E Mutation-positive Unresectable Advanced or Recurrent Solid Tumor
Special Drug Use-results Surveillance of Tafinlar/Mekinist
This is a prospective, multicenter, single-arm, non-interventional and observational J-PMS conducted by the central registration system and operated in Electronic data capture.
- Trial name
- NCT06262919
- Testing
- Tafinlar/Mekinist
- Where
- 70 sites in Japan
- Volunteers
- 110 people
- Sponsor
- Novartis Pharmaceuticals
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
Ovarian Cancer
Psychosexual Consequences of Risk-reducing Salpingo-oophorectomy
Short Rationale: Risk-reducing salpingo-oophorectomy (RRSO) is a mainstay in preventing ovarian cancer in BRCA1/2 mutation carriers, as ovarian cancer screening is ineffective in detecting ovarian cancer in an early and curable…
- Trial name
- PURSUE (NCT02372864)
- Testing
- Mindfulness based stress reduction (MBSR)
- Where
- Netherlands
- Volunteers
- 66 people
- Sponsor
- University Medical Center Groningen
MODY-2 Diabetes
The Effect of ß-cell Specific Glucokinase Mutation on Glucose Homeostasis and Insulin Secretion in a MODY-2 Family
Type 2 diabetes mellitus patients exhibit many glucose homeostasis abnormalities in different tissues and organs. Among the more important defects are disturbed hepatic glucose metabolism and defective pancreatic β-cell function.
- Trial name
- NCT01960231
- Testing
- OGTT
- Where
- Israel
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Sheba Medical Center
Muscular Disorders, Atrophic, Muscular Diseases
Managed Access Program for Del-zota in Participants With DMD Mutations Amenable to Exon 44 Skipping
The purpose of this Managed Access Program is to allow access to delpacibart zotadirsen (AOC 1044) for eligible patients diagnosed with DMD mutations amenable to exon 44 skipping.
- Conditions
- Muscular Disorders, Atrophic, Muscular Diseases, Musculoskeletal Diseases, Neuromuscular Diseases
- Trial name
- NCT07250737
- Testing
- delpacibart zotadirsen
- Where
- 22 sites in United States
- Sponsor
- Avidity Biosciences, Inc.
X-Linked Retinitis Pigmentosa
Gene Therapy for Subjects With RPGR Mutation-associated X-linked Retinitis Pigmentosa
A clinical trial of gene therapy for patients with X-linked retinitis pigmentosa (XLRP).
- Trial name
- NCT05874310
- Testing
- FT-002
- Where
- 2 sites in China
- Volunteers
- 18 people
- Sponsor
- Frontera Therapeutics
Hearing Impairment
Epidemiology of Non-syndromic Dominant Deafness
Hearing impairment is a common disorder that affects at least 7% of individuals in our countries. Even the causes of hearing impairment are numerous, genetic causes represent the main factor of sensorineural deafness.
- Trial name
- SURDOM (NCT01150305)
- Testing
- blood sample
- Where
- France
- Volunteers
- 183 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
IFN-Gamma Therapy, CGD Gene Mutation
Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease
Background: Chronic granulomatous disease (CGD) is an immunodeficiency disease in which white blood cells are unable to kill certain bacteria and fungi.
- Conditions
- IFN-Gamma Therapy, CGD Gene Mutation, CGD Response to IFNg, CGD - Chronic Granulomatous Disease
- Trial name
- NCT01147042
- Testing
- IFN-gamma
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Endometrial Neoplasms
The Role of POLE Mutation in High Risk Endometrial Cancer.
The actual role of POLE mutations in high-risk endometrial cancer is undetermined. The main question it aims to answer is: What is the prevalence of POLE mutations in high-risk endometrial cancer case? What is the impact of POLE…
- Trial name
- NCT07114653
- Where
- Taiwan
- Volunteers
- 150 people
- Sponsor
- Far Eastern Memorial Hospital
Advanced Cancers, Solid Tumors
Pazopanib and Everolimus in PI3KCA Mutation Positive/PTEN Loss Patients
The goal of this clinical research study is to find the highest tolerable dose of the combination of Votrient (pazopanib) and Afinitor (everolimus) that can be given to patients with advanced cancer.
- Trial name
- NCT01430572
- Testing
- Pazopanib, Everolimus
- Where
- United States
- Volunteers
- 62 people
- Sponsor
- M.D. Anderson Cancer Center
Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation
Rucaparib in Treating Patients With Genomic LOH High and/or Deleterious BRCA1/2 Mutation Stage IV or Recurrent Non-small Cell Lung Cancer (A Lung-MAP Treatment Trial)
This phase II Lung-MAP trial studies how well rucaparib works in treating patients with genomic loss of heterozygosity (LOH) high and/or deleterious BRCA1/2 mutation stage IV non-small cell lung cancer or that has come back.
- Conditions
- Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation, Loss of Heterozygosity, Lung Non-Small Cell Squamous Carcinoma
- Trial name
- NCT03845296
- Testing
- Rucaparib
- Where
- 950 sites in United States
- Volunteers
- 64 people
- Sponsor
- SWOG Cancer Research Network
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
Gene Insertions, Gene Deletion
Gene Biobank of Sports Injuries
Preserve biological samples and gene extracts of all sports medicine-related diseases. To study related gene mutation sites and regulation. To study related molecular mechanisms and signaling pathways.
- Trial name
- NCT04997629
- Where
- China
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Peking University Third Hospital
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