Clinical trials: Genetic Counseling
Genetic Counseling
Pilot Study of the Process of Prenatal Genetic Counseling
This study will examine the process of prenatal genetic counseling to determine how various client and counselor factors affect the communication process in a counseling session.
- Trial name
- NCT00047905
- Testing
- examine the process of prenatal genetic counseling
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Cystic Fibrosis, Lung Disease
Benefits and Risks of Newborn Screening for Cystic Fibrosis
Although cystic fibrosis (CF) is the most common, life-threatening autosomal recessive genetic disorder of the white population, there are often delays in diagnosis and hence start of treatment.
- Conditions
- Cystic Fibrosis, Lung Disease, Pseudomonas Infections
- Trial name
- NCT00014950
- Testing
- CF newborn screening
- Where
- 2 sites in United States
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Acute Lymphoblastic Leukemia (ALL)
Genetic Study of Familial Acute Lymphoblastic Leukemia
Familial aggregation is well recognized in some cancers. Though a number of familial cancer predisposition syndromes have been described, the nature of inherited genetic alterations in patients with a strong history of familial…
- Trial name
- NCT03067584
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- St. Jude Children's Research Hospital
Breast Cancer, Counseling
The Communication of Genetic Risk to Adolescent Daughters of Women With Breast Cancer
The purpose of this study is to first understand how MSKCC Clinical Genetics Service doctors talk to women with breast cancer about any genetic risks they might carry, and if they help women to think about what they might say, in…
- Trial name
- NCT00588705
- Testing
- focus group & questionaire
- Where
- United States
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
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
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
Holoprosencephaly
Retrospective Study Using Next Generation Sequencing (NGS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects.
Holoprosencephaly, or HPE, is the most common congenital cerebral malformation in humans and the most severe of a group of pathologies related to a deficiency of the SHH signalling pathway (Sonic Hedgehog SHH-D).
- Trial name
- EXOMEDIANE (NCT04691414)
- Testing
- NGS
- Where
- France
- Volunteers
- 33 people
- Sponsor
- Rennes University Hospital
Childhood Onset Obesity
GENYAL Study to Childhood Obesity Prevention
Obesity is a multifactorial, complex, chronic disease of special concern. It is originated as an interaction between genetic predisposition and environmental factors.
- Trial name
- NCT03419520
- Testing
- Nutritional counseling
- Where
- Spain
- Volunteers
- 221 people, healthy volunteers welcome
- Sponsor
- IMDEA Food
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)
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
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
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
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
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)
Severe Intellectual Disability
Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study
Evaluation of diagnostic whole exome sequencing in patients with syndromic or isolated severe intellectual disability without a molecular diagnostic, with suspected autosomal recessive inheritance, allowing accurate genetic…
- Trial name
- SHD-DI (NCT02862808)
- Where
- France
- Volunteers
- 18 people
- Sponsor
- Centre Hospitalier Universitaire de Besancon
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
Spina Bifida
Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing
The main objective is to improve genetic counseling in patients with Spina Bifida, by the characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.
- Trial name
- EXOSPINA (NCT02854150)
- Testing
- characterization of variants in new genes using high throughput sequencing either on a panel of targeted genes or on exome in families.
- Where
- France
- Volunteers
- 106 people
- Sponsor
- Rennes University Hospital
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
Autism, Autism Spectrum Disorder
Autism Genomics Sweden - Genetic Guidance and Information Trial
This observational clinical trial aims to evaluate whether providing genetic information about the origins of autism and related psychiatric disorders enhances understanding, well-being, and empowerment in adolescents and young…
- Conditions
- Autism, Autism Spectrum Disorder, ADHD - Attention Deficit Disorder With Hyperactivity, Depression Anxiety Disorder
- Trial name
- AuGeS-GV (NCT06740760)
- Testing
- Genetic counselling, Leaflet
- Where
- Sweden
- Volunteers
- 63 people
- Sponsor
- Karolinska Institutet