Active clinical trials for "Microcephaly"

This prospective cohort study will determine the natural history of fetal exposure to Zika virus (ZIKV) and its effects on the fetus and newborn with emphasis on neurodevelopment outcome. Exposure of the fetus will be determined by maternal symptomatology, RT-PCR ZIKV (blood and urine) and serologic test specific for ZIKV. Neonates will be classified according to trimester of infection and as exposed and unexposed to ZIKV.

This study will explore whether ZIKV is currently responsible for neurological complications, and particularly microcephaly, in Aedes-infested regions of Sub-Saharan Africa (SSA) and Asia. This will inform regional public health strategies, such as vaccination of women of child-bearing age. It will also demonstrate the public health impact of ZIKV infection and increase the understanding of other regional infectious (e.g. cytomegalovirus) causes of microcephaly.

Fanconi Anemia (FA) is mentioned in children with congenital malformations including kidney, hart and skeletal malformations (absence or abnormal thumb or forearm), and bone marrow failure or myelodysplasia with a progressive onset in childhood or adulthood. No study has focused on microcephaly, a reduction in brain volume, which is present in 20% of children, and its consequences on cognitive and structural level of the brain. Since 2014, Robert-Debré's team has been interested in this functional cognitive and neuroanatomical approach trough a National PHRC. Preliminary results carried out on 12 children show that their intellectual efficiency was in the normal range for age. However, we noticed a significant difference between abilities in comprehension and verbal reasoning corresponding to what is expected for age, and the sensorimotor skills or fine motor praxia significantly reduced. These difficulties, graphically penalizing for these children, are not always explained by a skeletal malformation of the upper limb, suggesting that musculo-tendinous anomalies may be associated. The objectives of our project are: 1) to identify upper limb musculo-tendinous abnormalities and their functional consequences, 2) to determine if these abnormalities could influence the somatosensory representation of the upper limb at the cerebral cortical level. This project should help us to better understand the fine motor disabilities or developmental coordination disorder of these children, which penalize their learning, and provide them with adapted solutions.

It is suspected that zika virus infection during pregnancy is associated with microcephaly. The objective of this study is to investigate the occurrence of rash accompanied by three or more dengue-like signs and symptoms during pregnancy is related to the microcephaly using the case-control design.

The purpose of this study is to: I. Compare neuroradiological phenotype and cognitive functioning of MCPH patients caused by ASPM mutations already characterized and published (Passemard et al. 2009a) with other MCPH-related patients (patients with MCPH1, WDR62, CDK5RAP2, CEP 152, CENPJ, STIL, or PCNT mutations) II. Describe the neuro-radiological and cognitive phenotype of microcephalic patients suffering from Fanconi anemia, and compared them to subjects with: Fanconi anemia but normal OFC (head circumference) MCPH patients Healthy control subjects Our hypothesis is that mutations in genes responsible of microcephaly impact differentially cortical brain development and functioning

The purpose of this research is to study a new way to test for chromosome abnormalities. Chromosomes are strands of DNA (the genetic material in the cell nucleus) that are made up of genes-the units of heredity. Chromosome abnormalities are usually investigated by staining the chromosomes with a dye (Giemsa stain) and examining them under a microscope. This method can detect many duplications and deletions of pieces of chromosomes and is very accurate in diagnosing certain abnormalities. It is not useful, however, for identifying very small abnormalities. This study will evaluate the accuracy of a test method using 24 different dyes for finding small chromosome abnormalities. Children and adults with various chromosome abnormalities may be eligible for this study, including, for example, people with developmental delay or mental retardation, abnormal growth features or growth retardation, and certain behavioral disorders. Participants will be evaluated in the clinic over a 1- to 3-day period, depending on their symptoms. All participants will be examined by a genetics specialist and will have a physical examination and possibly X-rays, computerized tomography (CT) scans, magnetic resonance imaging (MRI), ultrasound studies and medical photography. Blood will be drawn for chromosome testing-about 3 tablespoons from adults and 1 to 3 teaspoons from children. When the test results are available, participants will return to the clinic for follow-up evaluation and review of the test findings. The genetic and medical evaluations, along with their implications, will be discussed.

The purpose of this study si to define morphological and epidemiological parameters and identify new symptoms in French patients with Seckel syndrome (SCKL) or microcephalic osteodysplastic primordial dwarfism type II (MOPDII).

The recent increase in the number of cases of congenital microcephaly observed in Brazil is a reason of great concern. This increase occurred a few months after Zika virus (ZIKV) was introduced in the country, which was associated with reports of pregnant women presenting fever and rash illness during pregnancy. Thus, the hypothesis of a relationship between ZIKV infection and microcephaly became plausible. However, studies on the pathophysiology of maternal ZIKV infection, its consequences for the fetus, and the development of severe encephalopathy are still needed. Knowledge about the natural history of vertical transmission and its association with changes in fetal development in early life is still scarce. Studies on factors which determine the severity and clinical evolution, such as inflammatory response mechanisms, viral evolution, and development of serological tests to identify ZIKV infection, are still needed. The Aedes aegypti is responsible for the transmission of various types of viruses of interest to human health. Currently, it is primarily responsible for the transmission of the dengue, chikungunya, and ZIKV in epidemic proportions. In addition, it is not yet known whether there is an interaction between these viruses and whether the interaction can determine the severity of the disease. The aim of this study is to evaluate the natural history of ZIKV disease in two cohorts( pregnant women and children) starting with pregnant women or newborns or evennursing mothers, identifying risk biomarkers, mapping the anti-viral inflammatory response, evaluating the molecular evolution of the virus,which areimportant to determine the mechanisms of vertical viral infection and verify children neurodevelopment from birth to the end of 3rd year of life.

The aim of this study is to investigate short and long term consequences from early postnatal HCMV infection transmitted via human milk in very preterm infants (birth weight < 1500 g or gestational age < 32 weeks). These infants are at high risk of early death or survival with chronic disease and neurodevelopmental impairment if infected with HCMV. Infection is a common complication in this group of patients and reported to be the most frequent cause of death after the second week of life. Systemic infection in the newborn period is reported as representing an independent risk factor for survival with neurodevelopmental impairment among very preterm infants.

Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcephaly with brain malformations and facial dysmorphism, and is caused by mutations in RNU4ATAC. Although RNU4ATAC-associated TALS is a recognizable phenotype, an atypical presentation is sometimes observed, thus expanding the clinical spectrum (TALS-like phenotype). This study aims to identify new variants involved in Taybi-Linder syndrome and associated phenotypes (i.e.TALS-like). This non interventional study will be performed on patients with no proven mutation of RNU4ATAC and their blood relatives (19 samples total) by high throughput sequencing and genetic analysis of already collected deoxyribonucleic acid samples. Altogether, such a study will allow a better understanding of the molecular mechanisms responsible for the Taybi-Linder syndrome and Taybi-Linder syndrome-like phenotypes as well as the pathophysiology of these devastating forms of microcephalic dwarfism.