Genetic Identification of Monogenic Disorders in Early-onset Stroke Using Targeted Next Generation Sequencing Panel

NCT04485598 | Completed DMC

• 1 other identifier: CNSR3-ngs-eos
• Study Type: observational
• Target: 502
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Stroke, Acute; Transient Ischemic Attack; Single-gene Disorders

Keywords

Stroke; Transient Ischemic Attack; Targeted sequencing panel; Early-onset

Outcome Measures

Primary Outcomes (1)

• Percentage of patients with certain etiologic diagnosis established with targeted sequencing

  Percentage of patients with certain etiologic diagnosis established with targeted sequencing

  day 0

Secondary Outcomes (5)

• Obtained read depth according to number of pooled samples

  day 0

• Percentage of patients with variant with unknown significance

  day 0

• 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

  30 days

• Incidence of certain single-gene disorders in early-onset stroke patients

  day 0

Eligibility Criteria

• Age: 18 Years - 45 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• Provision of informed consent.
• Female or male aged ≥ 18 years and ≤ 45 years.
• Acute ischemic stroke or Transient ischemic attack((Neurological deficit attributed to focal brain ischemia, with resolution of the deficit within 24 hours of symptom onset) patients that can be enrolled within 7 days of symptoms onset defined by the"last see normal"principle.

You may not qualify if:

• Asymptomatic brain infarction
• Neurological deficit due to causes other than ischemic stroke or TIA

Sponsors & Collaborators

• Beijing Tiantan Hospital: lead
• Beijing Municipal Science & Technology Commission: collaborator

Study Sites (1)

Beijing Tian Tan Hospital, Capital Medical University

Beijing, Beijing Municipality, 100050, China

Location

Biospecimen

Retention: NONE RETAINED

Genomic DNA was extracted from peripheral blood leukocytes,

MeSH Terms

Conditions

Stroke; Ischemic Attack, Transient

Condition Hierarchy (Ancestors)

Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Brain Ischemia

Study Officials

• Wei Li, M.D

  Beijing Tian Tan Hospital, Capital Medical University, Beijing, China

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Executive Vice-President

Study Record Dates

• First Submitted: July 21, 2020
• First Posted: July 24, 2020
• Study Start: August 21, 2015
• Primary Completion: May 22, 2020
• Study Completion: May 22, 2020
• Last Updated: July 24, 2020

Record last verified: 2020-07

Locations

CN (1)