Clinical trials: Microcephaly
Premature Birth
Using Nasal High Flow From Birth in Premature Infants - a Pilot Study
Recent large studies have shown that not all premature babies need to be intubated (have a breathing tube inserted) and ventilated, nor do they all need to be given lung surfactant routinely.
- Trial name
- NCT01991886
- Testing
- Vapotherm Precision Flow
- Where
- United Kingdom
- Volunteers
- 28 people
- Sponsor
- Ashford and St. Peter's Hospitals NHS Trust
Fanconi Anemia
Microcephaly, Fanconi Anemia and Praxial Disorders
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…
- Trial name
- MicroFancII (NCT04656171)
- Testing
- MRI of the hand and forearm,
- Where
- France
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Hearing Loss, Mental Retardation
Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes.
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).
- Conditions
- Hearing Loss, Mental Retardation, Microcephaly, Chorioretinitis
- Trial name
- NCT01151462
- Where
- Norway
- Sponsor
- Oslo University Hospital
Brain Malformation, Neuronal Migration Disorder
Human Epilepsy Genetics--Neuronal Migration Disorders Study
The purpose of this study is to identify genes responsible for epilepsy, brain malformations and disorders of human cognition.
- Conditions
- Brain Malformation, Neuronal Migration Disorder, Cognition Disorder, Epilepsy
- Trial name
- NCT00041600
- Where
- United States
- Volunteers
- 3,500 people
- Sponsor
- Harvard University Faculty of Medicine
Spasticity, Muscle, Microcephaly
Melpida: Recombinant Adeno-associated Virus (Serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
MELPIDA is proposed for the treatment of subjects with SPG50 and targets neuronal cells to deliver a fully functional human AP4M1 cDNA copy via intrathecal injection to counter the associated neuronal loss.
- Conditions
- Spasticity, Muscle, Microcephaly, Intellectual Deficiency, Growth Retardation
- Trial name
- NCT05518188
- Testing
- MELPIDA
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Elpida Therapeutics SPC
Taybi Linder Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I and III
Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. These genes are named U12 genes, and these introns, minor or U12 introns.
- Conditions
- Taybi Linder Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I and III, Roifman Syndrome, Lowry Wood Syndrome
- Trial name
- ATAC (NCT06111950)
- Testing
- Blood samples, Skin biopsies, Fetal samples
- Where
- 6 sites in France
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Microcephaly, Mental Retardation
Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero
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.
- Trial name
- ZENI (NCT02943304)
- Testing
- Symptomatic pregnant women with positive RT-PCR ZIKV in serum or urine, or a positive serologic test specific for ZIKV
- Where
- Colombia
- Volunteers
- 284 people, healthy volunteers welcome
- Sponsor
- Universidad Industrial de Santander
Newborn, Pressure Injury
Pressure Injuries' Prevention in Newborn Infants Admitted to NICU
Nasal Continuous Positive Airway Pressure (NCPAP) is a respiratory support for neonates with Respiratory Distress Syndrome (RDS) and represents the gold standard for RDS treatment in many Neonatal Intensive Care Units (NICU).
- Trial name
- NCT04293601
- Testing
- interventional nursing care, Standard nursing care
- Where
- Italy
- Volunteers
- 280 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Respiratory Distress Syndrome in Premature Infant, Surfactant
Clinical RD (Respiratory Distress) Score for Objective Decision Making for Surfactant Therapy
To develop a comprehensive 'Clinical RD score' for decision making for administration of Surfactant in respiratory distress syndrome in preterm infants with gestation of 26 0/7 - 34 6/7 weeks and to assess the validity of this…
- Conditions
- Respiratory Distress Syndrome in Premature Infant, Surfactant, CPAP
- Trial name
- NCT03273764
- Where
- India
- Volunteers
- 209 people
- Sponsor
- Lady Hardinge Medical College
Hypothyroidism, Global Developmental Delay
Register for Patients With Thyroid Hormone Resistance.
Thyroid hormones (TH) play a pivotal role in the development and function of the mammalian brain. Patients with impaired thyroid hormone transport into the brain tissue or in the case of defective local thyroid hormone receptor…
- Conditions
- Hypothyroidism, Global Developmental Delay, Intellectual Disability, Dystonia
- Trial name
- DEEPTYPE (NCT06566066)
- Testing
- no intervention
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- Charite University, Berlin, Germany
Microcephaly
Microcephaly Genetic Deficiency in Neural Progenitors
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.
- Trial name
- MICROFANC (NCT01565005)
- Where
- France
- Volunteers
- 98 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cerebra-retinal Angiopathy
COL4A1 Gene Related Cerebra-retinal Angiopathy
This prospective multicenter cohort study aims to define the clinical, radiological and mutational spectrum of the disease related to COL4A1 gene.
- Trial name
- COL4A1 (NCT01097564)
- Testing
- COL4A1 genetic testing
- Where
- France
- Volunteers
- 132 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris