Pleiotropy and Mechanism of Peripheral Nerve Related Genes in the Progression of Amyotrophic Lateral Sclerosis

NCT04953494 | Unknown

• 1 other identifier: M2021051
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

This study will establish a comprehensive exon database of ALS patients, lay the foundation for screening the genes related to the occurrence and development of the disease, support the theory of ALS disease progression from peripheral to central, and reveal the correlation between the functional level of peripheral nerve and the prognosis of the disease at the gene level for the first time, and provide the basis for the mechanism research at the molecular level.

Conditions

Amyotrophic Lateral Sclerosis

Outcome Measures

Primary Outcomes (2)

• death

  patients' death

  until the patient dies, usually 1-10 years after diagnosis.

• invasive breathing

  The patient uses a ventilator to maintain breathing

  until the patient has invasive breathing, usually 1-10 years after diagnosis.

Study Arms (1)

Amyotrophic lateral sclerosis patients group

Diagnostic Test: Patient information collection, exon sequencing and follow-up.

Interventions

Patient information collection, exon sequencing and follow-up. DIAGNOSTIC_TEST

Clinical baseline data, disease characteristics, auxiliary examination results, EMG examination results, drug use and other information were collected. 4-6ml peripheral blood was collected for exon sequencing. The patients were followed up every three months by a specialist in the form of outpatient or telephone.

Amyotrophic lateral sclerosis patients group

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Amyotrophic lateral sclerosis patients in Peking University Third Hospital

You may qualify if:

• Since February 2021, he has been in the Department of Neurology, the Third Hospital of Beijing Medical University. He was diagnosed amyotrophic lateral sclerosis according to the revised EI Escorial diagnostic criteria of 2004 edition, and the patients within one year of onset.
• Informed consent has been signed.

You may not qualify if:

• Patients with ALS like syndrome caused by autoimmune diseases, paraneoplastic syndrome and simple demyelinating lesions were excluded.

Sponsors & Collaborators

• Peking University Third Hospital: lead

Study Sites (1)

Peking University Third Hospital

Beijing, Beijing Municipality, 100098, China

Location

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; TDP-43 Proteinopathies; Neuromuscular Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 27, 2021
• First Posted: July 8, 2021
• Study Start: August 1, 2021
• Primary Completion: August 31, 2021
• Study Completion: December 31, 2022
• Last Updated: July 8, 2021

Record last verified: 2021-07

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)