Clinical trials: Genetic Mutations
Developmental Disorders
Risk of Recurrence of de Novo Mutations: Research and Quantification of Paternal Germinal Mosaicism by the Combined Use of Genomic Tools
1. Inclusion of 5 families Inclusions will be made by the clinical genetics department of the Rouen University Hospital (monocentric study) and will correspond to trios of parents + child with unexplained developmental…
- Trial name
- RRMUT (NCT04564235)
- Testing
- genome-wide analyses, Search for de novo mutations in paternal sperm samples
- Where
- France
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- University Hospital, Rouen
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
Atopic Dermatitis
The Role of Filaggrin and FADS Genes on the Concentrations of PUFA Towards Its Effect on Atopic Dermatitis in Infants
The incidence of atopic dermatitis has increased dramatically in this years. Atopic dermatitis occurs due to complex interactions between genetic and environmental factors.
- Trial name
- FLG-FADSgen (NCT02401178)
- Where
- Indonesia
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Universitas Indonesia
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
High Myopia, Gene Mutations
TGFB1 And LAMA1 Gene Polymorphisms in High Myopia
The investigators aimed to investigate TGFB1 and LAMA1 gene polymorphisms in children with high myopia in order to determine the genetic basis of large myopic shifts causing severe visual impairment and complications.
- Trial name
- NCT03451877
- Testing
- TGFB1 AND LAMA1 GENE POLYMORPHISMS
- Volunteers
- 151 people, healthy volunteers welcome
- Sponsor
- Ege 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
Nephronophthisis, NPH1
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).
- Conditions
- Nephronophthisis, NPH1, Autosomal, Recessive
- Trial name
- NPH1 (NCT06648044)
- Testing
- Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie
- Where
- France
- Volunteers
- 310 people, healthy volunteers welcome
- Sponsor
- Imagine Institute
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
Ventricular Tachycardia
Calmodulin Gene Mutations in Patients With Ventricular Arrhythmia of Unknown Origin - A Screening Study
The aim of this study is to screen a well characterized patient population with ventricular tachycardia of unknown origin and treated with an implantable cardioverter-defibrillator (ICD) for mutations in the calmodulin genes.
- Trial name
- NCT01947543
- Where
- Sweden
- Volunteers
- healthy volunteers welcome
- Sponsor
- Region Örebro County
HIV/AIDS
Characteristics and Outcomes of Patients Who Received Etravirine and/or Darunavir
The objectives of this data collection activity are to: 1. Describe the baseline demographics, clinical and laboratory profile of patients who ever received darunavir (DRV) and/or etravirine (ETR), at the time of initiation on…
- Trial name
- NewHorizon (NCT04194021)
- Where
- 5 sites in Cameroon, Eswatini and 3 more
- Volunteers
- 871 people, healthy volunteers welcome
- Sponsor
- Elizabeth Glaser Pediatric AIDS Foundation
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)
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
Neuroblastoma
A Pilot Study on ALK Gene Mutations in Neuroblastoma
Neuroblastoma (NB) originates from the sympathetic nervous system and is one of the most common cancers in infants and children.
- Trial name
- NCT01986595
- Where
- Taiwan
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
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
Urea Cycle Disorders
Study in Healthy Subjects, Patients With Urea Cycle Disorders (UCD) and Carriers of UCD Mutations to Evaluate Urea Cycle Function
This diagnostic study will be performed to investigate the performance of the urea cycle in healthy subjects, asymptomatic carriers of Urea Cycle Disorders (UCD) mutations and subjects with genetically proven urea cycle…
- Trial name
- NCT01549015
- Testing
- oral administration of Sodium [1,2-13C]-Acetate
- Where
- 4 sites in Germany
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Cytonet GmbH & Co. KG
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
Myelodysplastic Syndromes
Comprehensive Molecular and Clinical Evaluation of Pediatric and Adult MDS
Background: Myelodysplastic syndromes (MDS) occur when the cells that make blood cells are abnormal. There are limited treatment options for MDS.
- Trial name
- NCT05350748
- Where
- United States
- Volunteers
- 1,100 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)