Clinical trials: Predisposition, Genetic
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
Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder
Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
This is a research protocol that will examine Hematopoietic Stem Cell Transplantation (HSCT) using a reduced conditioning regimen (RIC) with total body Irradiation (TBI) in those diagnosed with Common Variable Immunodeficiency…
- Conditions
- Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome
- Trial name
- CVID/PIRD (NCT07284641)
- Testing
- Hematopoietic stem cell transplant (HSCT)
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Paul Szabolcs
Lead Poisoning
Exposure, Dose, Body Burden and Health Effects of Lead
This is a study of the effects that lead has on the health of the central nervous system (for example, memory), peripheral nervous system (for example, sensation and strength in the hands and fingers), kidneys, blood pressure…
- Trial name
- NCT00013819
- Volunteers
- 944 people, healthy volunteers welcome
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Ataxia Telangiectasia
Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability and cancer susceptibility.
- Trial name
- NCT03357978
- Testing
- bioelectrical impedance analysis, blood draw, transient elastography (FibroScan)
- Where
- Germany
- Volunteers
- 30 people
- Sponsor
- Johann Wolfgang Goethe University Hospital
Asthma
Genetic Susceptibility to Childhood Respiratory IIlness in Mexico City
We propose to add a collection of genetic material to a clinical trial of anti-oxidant supplementation for the amelioration of asthma in 7-12 year olds being conducted at a public pediatric hospital in Mexico City.
- Trial name
- NCT00339521
- Where
- Mexico
- Volunteers
- 2,362 people
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Fanconi Anemia, Anemia, Hypoplastic, Congenital
Prenatal Transplantation for Fetuses With Fanconi Anemia
The investigators aim to evaluate the safety and efficacy of in utero hematopoietic stem cell transplantation (IUHSCT) for the treatment of fetuses diagnosed with Fanconi anemia (FA) during pregnancy.
- Conditions
- Fanconi Anemia, Anemia, Hypoplastic, Congenital, Congenital Bone Marrow Failure Syndromes, Bone Marrow Failure Disorders
- Trial name
- NCT07408583
- Testing
- IUHSCT for FA-affected fetuses
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Agnieszka Czechowicz
Spina Bifida, Anencephaly
Study of Genetic Risk Factors for Spina Bifida and Anencephaly
The purpose of this study is to describe the genetic contribution to the neural tube defects spina bifida (SB) and anencephaly (A), which includes identifying patients, defining the roles of certain genes, and studying…
- Trial name
- SBRR (NCT00031122)
- Testing
- No Intervention
- Where
- 2 sites in United States
- Volunteers
- 1,100 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Melanoma, Skin Cancer
A Model for Genetic Susceptibility: Melanoma
The goal of this study is to find out if some people are more likely to get melanoma, a form of skin cancer, than others are. To do this we will compare people who have had more than one melanoma to people who have had only one…
- Trial name
- NCT00591500
- Testing
- Questionnaire
- Where
- United States
- Volunteers
- 4,082 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Rare Diseases, Genetic Predisposition
Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes
For the retrospective data analysis, patients with genetic diseases of any age and, if available, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020, should be included.
- Trial name
- EXGEFATU (NCT04731857)
- Testing
- Retrospective data analysis
- Where
- Germany
- Volunteers
- 12,000 people
- Sponsor
- University Hospital Tuebingen
Fanconi Anemia, Autosomal or Sex Linked Recessive Genetic Disease
Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
Fanconi anemia is a rare autosomal or sex linked recessive genetic disease. The disease is characterized by bone marrow hematopoiesis failure, multiple congenital abnormalities, and susceptibility to neoplastic diseases.
- Conditions
- Fanconi Anemia, Autosomal or Sex Linked Recessive Genetic Disease, Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases., Hematopoiesis Maintainance.
- Trial name
- NCT01995305
- Testing
- human whole exome, whole genomic
- Where
- China
- Sponsor
- Xiaofan Zhu
Genetic Predisposition
Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
Background: The purpose of this study is to identify changes in genes that cause human diseases. We would like to obtain some of you or your child s DNA and test for changes in genes that may contribute to a disease in you or…
- Trial name
- NCT01375543
- Where
- United States
- Volunteers
- 128 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Genetic Predisposition
Barriers and Facilitators of Parent-Child Communication in Children With Cancer Predisposition
Testing children, adolescents, and young adults (CAYA) for a genetic risk for cancer can help with early prevention and detection of cancers through regular follow-ups and medical care.
- Trial name
- NCT05849155
- Where
- United States
- Volunteers
- 125 people
- Sponsor
- St. Jude Children's Research Hospital
Myocarditis, Ventricular Arrhythmia
Role of Endomyocardial Biopsy and Aetiology-based Treatment in Pediatric Patients with Inflammatory Heart Disease in Arrhythmic and Non-arrhythmic Clinical Presentations: an Integrated Approach for the Optimal Diagnostic and Therapeutic Management (MYOPED)
Myocarditis is a complex inflammatory disease, usually occurring secondary to viral infections, autoimmune processes or toxic agents.
- Conditions
- Myocarditis, Ventricular Arrhythmia, Inflammatory Cardiomyopathy, Genetic Predisposition
- Trial name
- MYOPED (NCT06591260)
- Testing
- support treatment, cardiac medical treatment, aetiology-specific treatment, device implant, arrhythmia ablation
- Where
- Italy
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Scientific Institute San Raffaele
Acute Leukemia, Adenomatous Polyposis
Familial Investigations of Childhood Cancer Predisposition
NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll.
- Conditions
- Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML
- Trial name
- SJFAMILY (NCT03050268)
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- St. Jude Children's Research Hospital
Confirmed Diagnosis of Cystic Fibrosis
Impact of Early Lung Physiology, Viral Infections and the Microbiota on the Development and Progression of Lung Disease in Children With Cystic Fibrosis
This study collects data on microbiological factors and lung function parameters (e.g. spirometry, body plethysmography, lung-MRI) to assess their interaction on the lung growth and lung development of infants and children with…
- Trial name
- SCILD (NCT04026360)
- Testing
- no intervention
- Where
- Switzerland
- Volunteers
- 500 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Epidemiology
Genetic Susceptibility in Migrant Farmworker Children
Primary Objectives: 1. To test the hypothesis that children whose mothers are Migrant/Seasonal Farmworkers (MSFs) (occupationally-exposed to pesticides) may be at a higher risk for exhibiting mutagen-induced DNA damage than…
- Trial name
- NCT00501280
- Testing
- Interview
- Where
- United States
- Volunteers
- 768 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Lung Cancer, Single Primary Lung Cancer
DNA Repair and Genetic Susceptibility to Lung Cancer
The purpose of this study is to help us better understand the cellular changes that may lead to the development of lung cancer. We want to compare people with a second primary lung cancer with those who have only a first primary…
- Conditions
- Lung Cancer, Single Primary Lung Cancer, Second Primary Lung Cancer
- Trial name
- NCT00611598
- Testing
- Blood draw and Questionnaires
- Where
- United States
- Volunteers
- 218 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Childhood Cancer, Genetic Predisposition
Genetic Risks for Childhood Cancer Complications in Switzerland
The objectives of the GECCOS project are to identify genetic variants associated with complications of childhood cancer using genotype-phenotype association studies.
- Conditions
- Childhood Cancer, Genetic Predisposition, Late Effect
- Trial name
- GECCOS (NCT04702321)
- Testing
- Procedure: Biospecimen Collection, Procedure: Medical Chart Review
- Where
- Switzerland
- Volunteers
- 6,000 people
- Sponsor
- University Hospital, Geneva
Immune Deficiencies
Detection and Characterization of Infections and Infection Susceptibility
This screening study will examine the causes of immune disorders affecting white blood cells, which defend against infections and will try to develop better means of diagnosis and treatment of these immune disorders.
- Trial name
- NCT00404560
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Genetic Diseases, Inborn, Genetic Predisposition to Disease
NYCKidSeq: Incorporating Genomics Into Clinical Care of Diverse NYC Children
The NYCKidSeq program will significantly advance the implementation of genomic medicine, particularly for children, young adults and their families in Harlem and the Bronx.
- Trial name
- NCT03738098
- Testing
- Standard of Care, GUÍA
- Where
- 2 sites in United States
- Volunteers
- 650 people
- Sponsor
- Icahn School of Medicine at Mount Sinai