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

Stroke, Acute Clinical Trial

— MDEOS  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04485598
• Other study ID #: CNSR3-ngs-eos
• Status: Completed
• Start date: August 21, 2015
• Est. completion date: May 22, 2020

Study information

• Verified date: July 2020
• Source: Beijing Tiantan Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Description:

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 502
• Est. completion date: May 22, 2020
• Est. primary completion date: May 22, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 45 Years

Eligibility

Inclusion Criteria:

• 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.

Exclusion Criteria:

• Asymptomatic brain infarction

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

Related Conditions & MeSH terms

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

Locations

Country	Name	City	State
China	Beijing Tian Tan Hospital, Capital Medical University	Beijing	Beijing

Sponsors (2)

Lead Sponsor	Collaborator
Beijing Tiantan Hospital	Beijing Municipal Science & Technology Commission

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Obtained read depth according to number of pooled samples	Obtained read depth according to number of pooled samples	day 0
Secondary	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	day 0
Secondary	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
Secondary	Time of analysis of NGS raw data	Time of analysis of NGS raw data	30 days
Secondary	Incidence of certain single-gene disorders in early-onset stroke patients	Incidence of certain single-gene disorders in early-onset stroke patients	day 0