Clinical trials: Holoprosencephaly
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)
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
Holoprosencephaly
A Study of the Genetic Analysis of Brain Disorders
A study of the complex genetics of brain development will be undertaken with an emphasis on those genes that cause the most common structural brain anomaly in humans called holoprosencephaly (HPE).
- Trial name
- NCT00645645
- Where
- United States
- Volunteers
- 5,735 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Congenital Heart Disease
Genetic Analysis of Left-Right Axis Formations
The objective of these studies is to identify genetic factors that contribute to the pathogenesis of complex congenital heart disease and other more rare conditions resulting from disturbances in organ positioning.
- Trial name
- NCT00341133
- Where
- United States
- Volunteers
- 900 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Holoprosencephaly, HPE
Clinical and Genetic Studies on Holoprosencephaly
This study will examine how holoprosencephaly (HPE) affects people, how they change over time, and what genes may be involved in the cause of the disorder.
- Conditions
- Holoprosencephaly, HPE, Developmental Delay Disorders, Brain Disorders
- Trial name
- NCT00088426
- Where
- United States
- Volunteers
- 256 people
- Sponsor
- National Human Genome Research Institute (NHGRI)