Clinical trials: Corpus Callosum Malformation
Mucolipidosis Type IV
The Natural History of Mucolipidosis Type IV
The purpose of this study is to define the natural history of Mucolipidosis Type IV and identify potential clinical outcome measures.
- Trial name
- NCT01067742
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Baylor Research Institute
Intellectual Deficiency, Cerebral Abnormality
Corpus Callosum Agenesis and Intellectual Disability
Corpus callosum agenesis or dysgenesis (CCA) is a major brain malformation (˜1/4000 births) presently diagnosed by prenatal ultrasonography.
- Trial name
- ACCREM (NCT02167568)
- Testing
- Genetic
- Where
- France
- Volunteers
- 360 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Corpus Callosum Agenesis
BECOME CHILDREN OF HOLDERS Corpus Callosum Agenesis Screened IN PERIOD Antenatal
The corpus callosum agenesis is an interesting malformation between 0.05% and 1.5% of the general population. This malformation is mostly diagnosed prenatally by ultrasound, usually at 22 weeks of gestation, and the use of…
- Trial name
- NCT02826824
- Where
- France
- Volunteers
- 60 people
- Sponsor
- University Hospital, Strasbourg, France
Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form
A Trial of Setmelanotide in Patients With Congenital Hypothalamic Obesity (Sub-study of NCT05774756)
This is a sub-study of Study RM-493-040 (NCT05774756). The goal of this sub-study is to learn how well Setmelanotide works to improve weight reduction, hunger, and quality of life in patients 4 years of age and older with…
- Conditions
- Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form, Septo-Optic Dysplasia, Optic Nerve Hypoplasia
- Trial name
- NCT06760546
- Testing
- Setmelanotide
- Where
- 11 sites in United States, United Kingdom
- Volunteers
- 39 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Urologic Diseases, Male Urogenital Diseases
Bioengineered Penile Tissue Constructs for Irreversibly Damaged Penile Corpora
The primary objective of this clinical trial is to evaluate the safety of autologous engineered corpora cavernosa + albuginea constructs for treatment of complex penile deformities.
- Conditions
- Urologic Diseases, Male Urogenital Diseases, Penile Diseases, Corpus Callosum Malformation
- Trial name
- NCT03463239
- Testing
- Autologous tissue engineered corpora
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Wake Forest University Health Sciences
Brain Disorders, Aicardi Syndrome
Brain Development Research Program
Dr. Elliott Sherr and his collaborators at University of California, San Francisco (UCSF) are studying the genetic causes of disorders of cognition and epilepsy, in particular disorders of brain development that affect the corpus…
- Trial name
- NCT00305305
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- University of California, San Francisco
Biological Clock Dysfunction, Optic Nerve Hypoplasia
Biological Clock Dysfunction in Optic Nerve Hypoplasia
Background: Optic Nerve Hypoplasia (ONH) is a leading cause of blindness in children. For unclear reasons, the incidence of ONH is increasing, with ONH affecting about 1 in 10,000 live-born infants.
- Trial name
- NCT00825591
- Testing
- Melatonin
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Yale University
Fetal Agenesis of the Corpus Callosum (ACC)
Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum
Agenesis of the corpus callosum (ACC) is one of the most frequent cerebral malformations and is now diagnosed prenatally in most cases.
- Trial name
- EXACC (NCT03600792)
- Testing
- whole exome sequencing (WES)
- Where
- France
- Volunteers
- 31 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Epilepsy
Impact of Interictal Electroencephalographic Abnormalities on the Stability of Attention in the Epilepsies
Cognitive disorders are a major problem in patients with epilepsy. One hypothesis is that the anomalies EEGs (AIC) may be responsible for short periods of attentional fluctuations causing a reduction of intellectual efficiency of…
- Trial name
- COGNIT-AIC (NCT03094793)
- Testing
- abnormal EEGs
- Where
- 2 sites in France
- Volunteers
- 162 people
- Sponsor
- University Hospital, Grenoble
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
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)
Agenesis of the Corpus Callosum
Infants With Agenesis of the Corpus Callosum
The purpose of this study is to assess the neurological development at three years of age of children born after prenatal diagnosis of "isolated" agenesis of the corpus callosum.
- Trial name
- DACCI (NCT02267161)
- Testing
- Psychometric scales for infants at 3 years of age
- Where
- France
- Volunteers
- 72 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Growth Hormone Deficiency, Septo-Optic Dysplasia
Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia
Hypotheses: 1. The prevalence of endocrinopathies, and growth hormone (GH) deficiency in particular, among young children diagnosed with optic nerve hypoplasia (ONH) is higher than is commonly thought. 2.
- Conditions
- Growth Hormone Deficiency, Septo-Optic Dysplasia, Hypopituitarism
- Trial name
- NCT00140413
- Testing
- Nutropin AQ
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Children's Hospital Los Angeles
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
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)
Corpus Callosum Agenesis
Decision-making Process of Couples Confronted With Prenatal Diagnosis of an Isolated CCA
This research promoted by the AP-HP (DRCI) is financed by the Agence de la biomédecine (ABM) and the Fondation Maladie Rare (FMR) and received a favourable opinion from the CPP on 8/12/2020.
- Trial name
- ACCED (NCT05843110)
- Testing
- Decision-making process
- Where
- France
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Corpus Callosum Malformation, Prenatal Disorder
Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation
Corpus callosum malformation (CCM) is the most frequently detected cerebral defect diagnosed in the prenatal setting. The most common CCM is corpus callosum agenesis (CCA) which is found in 2 to 3% of patients presenting with…
- Trial name
- AGMCC1318 (NCT03680651)
- Where
- France
- Volunteers
- 275 people
- Sponsor
- University Hospital, Brest
Septo-Optic Dysplasia, Agenesis of Corpus Callosum
Sleep Profile of Patients With Septo-optic Dysplasia
The aim of this study is to evaluate sleep of patients with septo-optic dysplasia compared to patients with an isolated disorder of peripheral visual system and patients with corpus callosum agenesis since both visus defict and…
- Conditions
- Septo-Optic Dysplasia, Agenesis of Corpus Callosum, Blindness
- Trial name
- NCT06262152
- Testing
- Actigraphy, blood and salivary sample, and sleep evaluation
- Where
- Italy
- Volunteers
- 45 people
- Sponsor
- IRCCS National Neurological Institute "C. Mondino" Foundation
2D Ultrasound, Cavum Septum Pellucidum
Screening of Septo-optic Dysplasia During a Fetal Examination at 16-20 Weeks of Gestation
Evaluation of prenatal optic chiasm (OC) is important for the differential diagnosis of septo-optic dysplasia (SOD), which is a congenital optic disc anomaly, and the absence of the cavum septum pellucidum (CSP).
- Conditions
- 2D Ultrasound, Cavum Septum Pellucidum, Septooptic Dysplasia, Optic Chiasma
- Trial name
- NCT05717855
- Testing
- Displaying optic chiasm for screening septooptic dysplasia
- Where
- Turkey (Türkiye)
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- Gaziosmanpasa Research and Education Hospital
Aicardi Syndrome, Brain Disorders
Study of Selected X-Linked Disorders: Aicardi Syndrome
Based on our current understanding of Aicardi syndrome, the condition is hypothesized to occur due to a genetic change on the X-chromosome.
- Trial name
- NCT00697411
- Testing
- Syndrome cause identification
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Baylor College of Medicine