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Found 107 clinical trials
Child to Adult Neurodevelopment in Gene Expanded Huntington's Disease

Huntington's Disease (HD) is an autosomal dominant disease manifested in a triad of cognitive, psychiatric, and motor signs and symptoms. HD is caused by a triplet repeat (CAG)expansion in the

neurodegenerative diseases
htt gene
autosomal dominant
chorea
diffusion tensor imaging
  • 159 views
  • 27 Feb, 2021
  • 5 locations
Development of New Biomarkers With Magnetic Resonance Imaging for Longitudinal Studies in CADASIL Angiopathy

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is an cerebral microangiopathy secondary to mutations in the NOTCH3 gene located on

  • 0 views
  • 24 Jan, 2021
Characterization of Patients With Tuberous Sclerosis Complex Lymphangioleiomyomatosis and Angiomyolipoma

Tuberous Sclerosis Complex (TSC) is a multisystemic autosomal dominant disease that is characterized by the development of benign neoplasms in brain, kidney, lung, skin and heart. TSC is caused

astrocytoma
lymphangioleiomyomatosis
angiomyolipoma
obstruction
sirolimus
  • 7 views
  • 25 Jan, 2021
  • 1 location
Familial Hypercholesterolemia Amongst Patients With Acute Coronary Syndrome

Familial hypercholesterolemia (FH) is a most prevalent genetic disorder, defines as high cholesterol level and premature death. The prevalence of FH has been reported in few countries however unknown in Iran. Thus recognize the FH patients, determine the diagnostic strategies and appropriate treatments are important. Also acute coronary syndrome (ACS) …

infarct
cardiac event
cholesterol level
angina pectoris
unstable angina
  • 16 views
  • 21 Jan, 2021
  • 1 location
Neurofilament Surveillance Project (NSP)

This is a biomarker study designed to collect and analyze blood specimens from individuals carrying known familial frontotemporal lobar degeneration (f-FTLD) mutations compared to a control group of individuals without known f-FTLD mutations. The NSP is an ancillary study to the ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration" (ALLFTD) study, NCT04363684. …

frontotemporal lobar degeneration
  • 12 views
  • 05 Feb, 2021
  • 8 locations
Frameshift Peptides of Children With NF1

The objective of this study is to determine if children and young adults with Neurofibromatosis Type 1 (NF1) and either Low Grade Gliomas (LGGs) or Plexiform Neurofibromas (PNs) have a specific frameshift peptide protein profile and whether a disease specific vaccine created to address these frameshift mutations and variants can …

  • 1 views
  • 24 Jan, 2021
  • 2 locations
Early Detection of Familial Hypercholesterolemia in Children

Heterozigous FH is an underdiagnosed disease in the paediatric population. Its early detection, would allow us to initiate lifestyle therapeutical changes and early pharmacological therapy if necessary. This is a key fact to reduce atherosclerosis progression and cardiovascular risk in adulthood. Moreover, it will allow, detecting the first and second …

diabetes
genetic disorder
atherosclerosis
early diagnosis
  • 0 views
  • 24 Jan, 2021
  • 2 locations