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| Name | Class |
|---|---|
| Beijing Municipal Science & Technology Commission | OTHER |
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The study was designed as a multicenter multiracial prospective observational study of acute ischemic stroke and TIA patients across china. The purpose of this study is to determine the monogenic disorders incidence of Chinese early-onset stroke patients. We plan to consecutively enroll more than 500 patients with early-onset stroke(in the 18- to 45-year age range) admitted in stroke units within 7 days after symptoms onset in participating centers. These early-onset stroke patients are referred for targeted sequencing using 'cerebrovascular disease panel'. By analyzing the sequencing results, we intend to identify monogenic causes causing early-onset stroke and develop clinical algorithms that might assist the clinician in deciding in which early-onset stroke patients testing for monogenic causes of stroke.
The study was designed as a multicenter multiracial prospective observational study of acute ischemic stroke and TIA patients across china. The purpose of this study is to determine the monogenic disorders incidence of Chinese early-onset stroke patients. We plan to consecutively enroll more than 500 patients with early-onset stroke(in the 18- to 45-year age range) admitted in stroke units within 7 days after symptoms onset in participating centers. Patients fulfilling all of the inclusion criteria and none of the exclusion criteria will be referred for targeted sequencing using 'cerebrovascular disease panel'. When one or multiple pathogenic or possible pathogenic exonic mutations are found, a Sanger Sequencing (SS) on somatic DNA from peripheral blood leukocyte of the index case and affected relatives will be performed for the screening of the same mutations. And the sporadic patient's mutations will be checked by SS in the unaffected family members. By analyzing the sequencing results, we intend to identify monogenic causes causing early-onset stroke and develop clinical algorithms that might assist the clinician in deciding in which early-onset stroke patients testing for monogenic causes of stroke.
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| Measure | Description | Time Frame |
|---|---|---|
| Percentage of patients with certain etiologic diagnosis established with targeted sequencing | Percentage of patients with certain etiologic diagnosis established with targeted sequencing | day 0 |
| Measure | Description | Time Frame |
|---|---|---|
| Obtained read depth according to number of pooled samples | Obtained read depth according to number of pooled samples | day 0 |
| Percentage of patients with variant with unknown significance | Percentage of patients with variant with unknown significance, needing supplementary analyses to prove its involvement in early-onset stroke |
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Inclusion Criteria:
Exclusion Criteria:
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Acute ischemic stroke or Transient ischemic attack patients from participating centers over China that can be enrolled within 7 days of symptoms onset defined by the"last see normal"principle.Female or male aged ≥ 18 years and ≤ 45 years.
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| Name | Affiliation | Role |
|---|---|---|
| Wei Li, M.D | Beijing Tian Tan Hospital, Capital Medical University, Beijing, China | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Beijing Tian Tan Hospital, Capital Medical University | Beijing | Beijing Municipality | 100050 | China |
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| ID | Term |
|---|---|
| D020521 | Stroke |
| D002546 | Ischemic Attack, Transient |
| ID | Term |
|---|---|
| D002561 | Cerebrovascular Disorders |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
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Genomic DNA was extracted from peripheral blood leukocytes,
| day 0 |
| Clinical phenotype for each gene for which a causal mutation is identified by targeted sequencing panel | Clinical phenotype for each gene for which a causal mutation is identified by targeted sequencing panel | day 0 |
| Time of analysis of NGS raw data | Time of analysis of NGS raw data | 30 days |
| Incidence of certain single-gene disorders in early-onset stroke patients | Incidence of certain single-gene disorders in early-onset stroke patients | day 0 |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D002545 | Brain Ischemia |