Clinical trials: Mutation Abnormality
Postoperative Complications, Recurrence
Surgical and Oncologic Outcomes After Robotic Nipple Sparing Mastectomy and Immediate Reconstruction
Robotic mastectomy with immediate reconstruction was introduced by Toesca et al. in 2015. Since then, several studies have reported the safety and feasibility of robotic nipple-sparing mastectomy with immediate reconstruction.
- Conditions
- Postoperative Complications, Recurrence, Breast Neoplasms, Breast Cancer
- Trial name
- SORI (NCT04108117)
- Testing
- Robotic nipple sparing mastectomy
- Where
- South Korea
- Volunteers
- 659 people, healthy volunteers welcome
- Sponsor
- Severance Hospital
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
Retinal Dystrophies, Color Vision Defects
Natural History Study of Inherited Retinal Diseases
This prospective, observational investigation seeks to delineate the interplay between chromatic vision deficits and both functional visual outcomes and anatomical retinal biomarkers in individuals affected by Inherited Retinal…
- Conditions
- Retinal Dystrophies, Color Vision Defects, Vision Disorders, Macular Degeneration
- Trial name
- MojiLVCDT (NCT07085533)
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Augelux Therapeutics
Malignant Hyperthermia
Gene Mutation Spectrum of Malignant Hyperthermia in China
In this study, case information and specimens of patients with malignant hyperthermia(MH) will be collected from all over China, and gene fragment analysis, sanger sequencing method and/or high-throughput whole-genome sequencing…
- Trial name
- NCT04474860
- Testing
- gene sequencing
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- West China Hospital
RAS Mutation, Neurofibromatosis 1
RASopathy Biorepository
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently.
- Conditions
- RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines
- Trial name
- NCT04395495
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Helicobacter Pylori Infection
The Prevalence of Family-unit Helicobacter Pylori Infection in Jiangsu
To assess Family-unit Helicobacter Pylori Infection rates and antimicrobial resistance rates in Jiangsu,China
- Trial name
- NCT05654857
- Testing
- PCR test in the stool
- Where
- 16 sites in China
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Nanjing First Hospital, Nanjing Medical University
Breast Cancer, Hereditary Breast and Ovarian Cancer
Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry
PROGECT is a registry for patients with Triple Negative breast cancer (TNBC) or patients who have an identified germline mutations (such as a mutation on the BRCA1 or BRCA2 genes).
- Trial name
- PROGECT (NCT02302742)
- Where
- 11 sites in United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Kansas Medical Center
Dent Disease
Dent Disease Mutation Genotyping
This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe disease in Dent Disease.
- Trial name
- NCT01783795
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Spinal Muscular Atrophy
Characterization of the Clinical-epidemiological Profile of Patients With SMA5q Types II and III: Observational Study
This study aims to characterize the clinical-epidemiological profile and baseline characteristics of patients with spinal muscular atrophy (SMA) 5q types II and III in follow-up at the Brazilian Unified Public Health System…
- Trial name
- NCT04404764
- Testing
- Nusinersen Injectable Product
- Where
- 9 sites in Brazil
- Volunteers
- 155 people, healthy volunteers welcome
- Sponsor
- Hospital Israelita Albert Einstein
Infections, Pneumonia
Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)
The Hyper IgE Syndromes (HIES) are primary immunodeficiencies resulting in eczema and recurrent skin and lung infections. Autosomal dominant Hyper IgE syndrome (AD-HIIES; Job's syndrome) is caused by STAT3 mutations, and is a…
- Conditions
- Infections, Pneumonia, Immune System Diseases, STAT3 Transcription Factor
- Trial name
- NCT00006150
- Where
- United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
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)
Atopic Dermatitis, Ichthyosis Vulgaris
Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
The investigators' primary objective is to identify common and rare mutations in the filaggrin gene in African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris.
- Trial name
- NCT01016106
- Testing
- Buccal Swab
- Where
- 2 sites in United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Northwestern University
Generalized Aggressive Periodontitis, Chronic Periodontitis
Evaluation of Possible Genes in Periodontal Diseases by Genetic Methods
Generalized aggressive Periodontitis (GAgP) and chronic periodontitis (CP) are inflammatory diseases. Little is known about molecular changes and signaling cascade of host response.
- Trial name
- NCT04026828
- Testing
- Periodontitis Group
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Kocaeli University
Chiari Malformation, Type 1
Identification of Genetic Mutations Involved in Chiari Type I Malformations
Although most cases of Chiari malformation type I (CM1) are sporadic, familial cases of CM1, with or without syringomyelia, suggest a genetic cause in the pathogenesis of these malformations.
- Trial name
- ChiariGene (NCT05165030)
- Testing
- Blood Sample
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier
Natural History Study - Mitochondrial Disease
Carriers of the m.3242A>G mutation often have clinical symptoms which can include migraines, seizures, strokes, hearing loss, balance issues, gastrointestinal issues, and many other symptoms.
- Trial name
- NCT01532791
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Columbia University
Primary Lymphedema
Primary Lymphedema and Mutation CELSR1 (Cadherin EGF LAG Seven-pass G-type Receptor 1)
The investigators will describe the expression of mutation CELSR1 with codon stop and amino acids substitution mechanism in primary lymphedema, in both clinical examination and imaging exploration
- Trial name
- CELSR1 (NCT04919655)
- Where
- France
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Mutation, Point
Elucidating the Molecular and Biochemical Basis of the Human AhR-mutation Disease
In a previous study, we have identified a consanguineous family from Northern Israel with three children affected by idiopathic infantile nystagmus (IIN) and foveal hypoplasia, which follow an autosomal recessive mode of…
- Trial name
- NCT03566745
- Testing
- Blood for protein activity
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Hillel Yaffe Medical Center
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
Long QT Syndrome Type 1 or 2
Comparison Between Epinephrine and Exercise Test in QT Long Syndrome Patients
The aim of the study is to evaluate the best stress exam to unmask long QT in patient with KCNQ1 or KCNH2 mutation without long QT interval in rest electrocardiogram.
- Trial name
- QT long (NCT01745666)
- Testing
- exercise test, Epinephrine test
- Where
- 8 sites in France
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
Li-Fraumeni Syndrome, Li-Fraumeni-Like Syndrome
Li-Fraumeni Syndrome/TP53 Biobank
Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome are cancer predisposition syndromes due to germline aberrations in the TP53 gene.
- Trial name
- NCT04367246
- Testing
- No Intervention
- Where
- 2 sites in United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine