Clinical trials: Genetic Counseling
Poikiloderma
Screening for Genes in Patients With Poikiloderma
In the context of this study, the investigators wish to take advantage of high-throughput genetic techniques (microarray and high-throughput exome sequencing) to identify new genes implicated in syndromic poikiloderma so as to…
- Trial name
- poikiloderma (NCT02862834)
- Testing
- High-throughput exome sequencing
- Where
- France
- Volunteers
- 39 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Genetic Disease, Cancer
Educational Video for Genetic Testing
Develop and evaluate the acceptability, feasibility, and preliminary efficacy of an informational video on paired tumor/normal testing for children and adolescents with a new diagnosis of cancer, tumors or other diagnosis.
- Trial name
- NCT05472714
- Testing
- Educational Video
- Where
- United States
- Volunteers
- 359 people
- Sponsor
- Children's Hospital of Philadelphia
Achondroplasia, Dwarfism
Issues Surrounding Prenatal Genetic Testing for Achondroplasia
Since the gene responsible for achondroplasia was identified in 1994, it has become possible to test for achondroplasia prenatally.
- Trial name
- NCT00001536
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Genetic Disorder, Metabolic Disease
Studies of Children With Metabolic and Other Genetic Disorders
This study will provide medical evaluations for patients with known or suspected metabolic and genetic disorders. It will allow NICHD investigators and trainees experience in diagnosing, managing, and treating patients with…
- Trial name
- NCT00025870
- Where
- United States
- Volunteers
- 1,090 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Sickle Cell Disease, Quality of Life
Improving Disease Knowledge in Adolescents With Sickle Cell Disease
Increased knowledge about an illness can increase self-management among those afflicted. In order to facilitate people with sickle cell disease living a longer and healthier life, they should be taught to manage their illness.An…
- Trial name
- KNOW-IT (NCT01945073)
- Testing
- Educational Booklet (BK), Formal Counselling (CB)
- Where
- Jamaica
- Volunteers
- 150 people
- Sponsor
- The University of The West Indies
Holoprosencephaly
Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly
This study will examine the experiences of parents who decided to continue a pregnancy after receiving a prenatal diagnosis of holopresencephaly (HPE).
- Trial name
- NCT00005016
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Genetic Disorder, Asperger Disorder
Pediatric Patients With Metabolic or Other Genetic Disorders
Background: Some patients with unusual genetic conditions are referred to the National Institutes of Health (NIH). They may not be eligible to join current research studies.
- Conditions
- Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome
- Trial name
- NCT02769949
- Where
- United States
- Volunteers
- 96 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Quality of Life, Ichthyosis
Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling
The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of…
- Conditions
- Quality of Life, Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa
- Trial name
- NCT06330350
- Testing
- Qualitative interview
- Where
- Netherlands
- Volunteers
- 25 people
- Sponsor
- Maastricht University Medical Center
Whole Genome Sequencing
South-seq: Deoxyribonucleic Acid (DNA) Sequencing for Newborn Nurseries in the South
2,000 infants with signs suggestive of a genetic disorder being treated at a neonatal intensive care unit (NICU) in which African-American and rural populations are highly represented will be enrolled.
- Trial name
- NCT03842995
- Testing
- Genetic Counselor, Trained Healthcare Provider
- Where
- 3 sites in United States
- Volunteers
- 477 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
ASD, Autism Spectrum Disorder
The Effects of Tailored Judo Training and Nutritional Counseling on Physical Fitness and Body Composition in Children With Autism: A Study Including Blood Morphology and Genetic Analysis
The present research project aims to testing adapted judo training as a form of supportive developmental therapy, combined with nutritional counseling, to influence physical fitness, dietary habits, body composition, body…
- Conditions
- ASD, Autism Spectrum Disorder, Autism Spectrum Disorder High-Functioning, Autism Spectrum
- Trial name
- AdaptedJudoASD (NCT07442994)
- Testing
- Adapted judo training for children and adeloscence with and without autism spectrum disorder - training in integrated groups
- Where
- Poland
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Poznan University of Physical Education
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
Genetic Disease, CNV
Reinterpretation of CNV With Unknown Significance: a 5-year Retrospective Analysis
We aim to assess the usefulness of systematic reinterpretation of CNV of unknown significance. To investigate this question we will study all CNV of unknown significance detected between 2010 and 2017.
- Conditions
- Genetic Disease, CNV, Genetic Counseling, Array CGH
- Trial name
- ReAC (NCT04575350)
- Testing
- reinterpretation of CNV
- Where
- France
- Volunteers
- 282 people, healthy volunteers welcome
- Sponsor
- Central Hospital, Nancy, France
Breast Cancer, Hereditary Breast/Ovarian Cancer (brca1, brca2)
Standard Genetic Counseling With or Without a Decision Guide in Improving Communication Between Mothers Undergoing BRCA1/2 Testing and Their Minor-Age Children
RATIONALE: A study that evaluates the support of a decision guide used together with genetic counseling may improve communication between mothers undergoing BRCA1/2 testing and their minor-age children.
- Trial name
- NCT00685256
- Testing
- counseling intervention, educational intervention, survey administration
- Where
- 2 sites in United States
- Volunteers
- 245 people
- Sponsor
- Georgetown University
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
Mitochondrial Diseases
Establishment of Reproductive Cohort and Prediction Model of Genetic Counseling for Mitochondrial Genetic Diseases
The goal of this observational study is to provide a reference for clinicians to conduct genetic counseling and carry out preimplantation genetic testing of mitochondrial patients.
- Trial name
- NCT06450964
- Testing
- Biological samples such as blood, urine, oral epithelial cells and nails of carriers were collected, and the mitochondrial DNA mutation heterogeneity level was determined.
- Where
- China
- Volunteers
- 600 people
- Sponsor
- Anhui Medical University
Genetic Counseling Profession
Me-GC: A Randomized Controlled Trial of Meditation for Genetic Counselors
This study is designed to determine whether meditation is beneficial for genetic counselors and genetic counseling students. The main goal is to see if meditation can help with professional well-being (burnout for genetic…
- Trial name
- NCT03723018
- Testing
- Meditation
- Where
- United States
- Volunteers
- 605 people, healthy volunteers welcome
- Sponsor
- Stanford University
Adoption, Genetic Counseling
The Value of Genetic Information to Adult Adopted Individuals
This study will explore adult adoptees' perceptions of the potential value of genetic and family history information. Unlike most people, many adopted individuals do not have access to personal or family medical information…
- Trial name
- NCT00057694
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Breast Neoplasms, Ovarian Neoplasms
Outcomes of Education and Counseling for BRCA1 Testing
This study will identify how personal beliefs, values and family experiences affect a person's decision as to whether or not to be tested for changes in a gene called BRCA1 or BRCA2.
- Trial name
- NCT00001468
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hemophilia A, Hemophilia B
The Effect of Patient Counseling on Adolescent Hemophilia Patient Compliance With Bleeding Logs
The study will see if counselling adolescents with severe or moderate Hemophilia A or B results in increased compliance in the maintenance of bleeding logs.
- Trial name
- NCT00212459
- Testing
- Counseling, Control
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- New York Presbyterian Hospital
Genetic Counseling
Noninvasive Prenatal Testing
Before and after a patient receives genetic counseling they will be offered the chance to complete the survey, by their counselor.
- Trial name
- NCT02586428
- Testing
- what patients elect noninvasive prenatal testing (NIPT)
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- St. Louis University