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Found 1206 clinical trials
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Natural History of Neuronal Ceroid Lipofuscinosis Batten's CLN6 Diseae

CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills with motor delay, visual loss, seizures and ataxia. The investigators propose a natural history study of

ceroid lipofuscinosis
ataxia
gene therapy
visual loss
neurodegenerative disorders
  • 57 views
  • 29 Jan, 2021
  • 1 location
None
SLC13A5 Deficiency Natural History Study - Remote Only

SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life. This natural history study

  • 0 views
  • 26 Jan, 2021
  • 1 location
None
CASPR2 Encephalitis Initial Symptoms

auto-immune encephalitides lead to an inflammation of the limbic system and generate focal temporal seizures and cognitive impairment. Most patients are initially hospitalized because of the temporal

  • 0 views
  • 27 Jan, 2021
  • 1 location
None
Impact of Body Mass Index on Serum Maternal and Fetal Magnesium Level

arrhythmia and stroke. In pregnant women ,MgSo4 has been used in many cases such as for seizures prophylaxis in preeclampsia, tocolysis in preterm labour and for fetal neuroprotection in immenint preterm

stroke
prenatal
body mass index
hellp syndrome
premature birth
  • 0 views
  • 30 Apr, 2021
  • 1 location
None
A Natural History Study of Late Infantile Variant CLN5 And CLN7 Disease

CLN5 and CLN7 are forms of Batten Disease, and neurodegenerative disorders in children causing psychomotor regression, seizures, blindness, loss of ambulation and premature death, and have no

  • 0 views
  • 26 Jan, 2021
  • 1 location
None
Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease the International DEM-CHILD Database

records, patient questionnaires and routine follow up clinical examinations with focus on assessing progression in key areas of disease such as motor, language, cognition, seizures, vision, and behavior

  • 0 views
  • 03 Nov, 2021
  • 1 location
None
Pharmacokinetics of Isavuconazole in Patients in the Intensive Care Unit

isavuconazole therapy if possible. Total and free isavuconazole concentrations will be determined. A pharmacokinetic model will be fitted to the data from all individuals simultaneously. Data will be analysed

  • 0 views
  • 20 Jul, 2021
  • 1 location
None
Chronic Intestinal Pathologies Analytical Cohort at TouLouse

) and patients who should benefit from digestive examinations as part of a screening oriented either by the patient's family history or following the performance of an immunological screening test ( FIT

cancer
enteropathy
gastrointestinal disease
  • 0 views
  • 27 May, 2021
None
Mitochondrial Disease and Dysfunction in Neurological and Neurodevelopmental Disorders

Researchers in the Neurodevelopmental Division at Phoenix Children's Hospital are conducting a study about mitochondrial function in children with autism spectrum disorder (ASD). The study involves up to 5 visits to Phoenix Children's Hospital with fasting blood draws, behavioral assessments, and/or questionnaires. Other samples may be collected when appropriate. This …

diagnostic assessment
neurodevelopmental disorder
fasting
pervasive developmental disorder
autism
  • 15 views
  • 08 Sep, 2021
  • 1 location
None
Natural History Study - Mitochondrial Disease

Carriers of the m.3242A>G mutation often have clinical symptoms which can include migraines, seizures, strokes, hearing loss, balance issues, gastrointestinal issues, and many other symptoms

  • 21 views
  • 08 Sep, 2021
  • 1 location