Amyotrophic Lateral Sclerosis Registry

This study takes amyotrophic lateral sclerosis (ALS) patients as the main research object. Through collecting genetics, imaging and clinical symptoms for Exploratory research, we will construct the gene spectrum of ALS in China, explore unknown pathogenic genes, explore the characteristic image characteristics of ALS, and establish the iPSCs library of ALS, providing resources and basis for the research of pathogenesis and treatment targets of ALS.

Study Overview

• Status: Not yet recruiting
• Conditions: Amyotrophic Lateral Sclerosis
• Intervention / Treatment: Other: Amyotrophic Lateral Sclerosis

Detailed Description

This study is a multicenter, prospective registration study that will follow up patients with clinically confirmed and suspected amyotrophic lateral sclerosis for a period of 2 years. A total of 1000 patients will be included to dynamically observe the changes in clinical symptoms and signs, imaging, electrophysiology, biomarkers, biological samples and so on, which will construct a genetic profile of ALS in China, explore the etiology and pathogenesis, and establish an iPSCs library, provide a basis for finding treatment targets.

• Study Type: Observational
• Enrollment (Estimated): 1000

Contacts and Locations

• Study Contact: Name: Yilong Wang, M.D.; Phone Number: 13911666571; Email: yilong528@gmail.com
• Study Contact Backup: Name: Weiqi Chen, M.D.; Phone Number: 15652813380; Email: weiqichen@aliyun.com

Study Locations

• China
  • Beijing, China, 100050
    • Beijing Tiantan Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

The study aims to include an estimated 1000 ALS patients in China.

Description

Inclusion Criteria:

• 18 years old ≤ age ≤ 80 years old;
• Patients are diagnosed definite or probable ALS according to the Awaji diagnostic criteria;
• Sign an informed consent form.

Exclusion Criteria:

• Unable to cooperate with research or complete follow-up due to geographical or other reasons.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Amyotrophic Lateral Sclerosis; This study is an observational study without grouping.	Other: Amyotrophic Lateral Sclerosis; All ALS patients included in this group.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Gene Mutation Characteristics of ALS in Chinese	Constructing a Chinese ALS genetic information database by collecting genetic information from patients.	day 1
The disease development of ALS in the Chinese	Record the progress of patients' clinical symptoms from baseline through 2-year follow-up.	month 24

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Exploring the imaging characteristics of ALS in the Chinese	Record the change of the patient's head MRI from baseline through follow-up every 3 months.	day 1, month 3, month 6, month 9, month 12, month 15, month 18, month 21, month 24
Establishing an iPSCs library for ALS in the Chinese	100 fALS and clinically typical sALS were selected. Monocytes were isolated from peripheral blood collected at baseline, and Reprogramming into iPSCs to establish iPSCs library.	day 1
Analysis of the correlation between electrophysiology characteristics and imaging characteristics of ALS in Chinese	Record the progression of the disease from an electrophysiological and imaging perspective by conducting electromyography and head MRI every 3 months.	day 1, month 3, month 6, month 9, month 12, month 15, month 18, month 21, month 24

Collaborators and Investigators

• Sponsor: yilong Wang
• Investigators: Principal Investigator: Yilong Wang, M.D., Beijing Tiantan Hospital

Publications and helpful links

General Publications

• Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, Burrell JR, Zoing MC. Amyotrophic lateral sclerosis. Lancet. 2011 Mar 12;377(9769):942-55. doi: 10.1016/S0140-6736(10)61156-7. Epub 2011 Feb 4.
• Meng L, Bian A, Jordan S, Wolff A, Shefner JM, Andrews J. Profile of medical care costs in patients with amyotrophic lateral sclerosis in the Medicare programme and under commercial insurance. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):134-142. doi: 10.1080/21678421.2017.1363242. Epub 2017 Sep 11.
• van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Basak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Soraru G, Siciliano G, Filosto M, Padovani A, Chio A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-Garcia R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cichon S, Nothen MM, Amouyel P; SLALOM Consortium; PARALS Consortium; SLAGEN Consortium; SLAP Consortium; Traynor BJ, Singleton AB, Mitne Neto M, Cauchi RJ, Ophoff RA, Wiedau-Pazos M, Lomen-Hoerth C, van Deerlin VM, Grosskreutz J, Roediger A, Gaur N, Jork A, Barthel T, Theele E, Ilse B, Stubendorff B, Witte OW, Steinbach R, Hubner CA, Graff C, Brylev L, Fominykh V, Demeshonok V, Ataulina A, Rogelj B, Koritnik B, Zidar J, Ravnik-Glavac M, Glavac D, Stevic Z, Drory V, Povedano M, Blair IP, Kiernan MC, Benyamin B, Henderson RD, Furlong S, Mathers S, McCombe PA, Needham M, Ngo ST, Nicholson GA, Pamphlett R, Rowe DB, Steyn FJ, Williams KL, Mather KA, Sachdev PS, Henders AK, Wallace L, de Carvalho M, Pinto S, Petri S, Weber M, Rouleau GA, Silani V, Curtis CJ, Breen G, Glass JD, Brown RH Jr, Landers JE, Shaw CE, Andersen PM, Groen EJN, van Es MA, Pasterkamp RJ, Fan D, Garton FC, McRae AF, Davey Smith G, Gaunt TR, Eberle MA, Mill J, McLaughlin RL, Hardiman O, Kenna KP, Wray NR, Tsai E, Runz H, Franke L, Al-Chalabi A, Van Damme P, van den Berg LH, Veldink JH. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Erratum In: Nat Genet. 2022 Mar;54(3):361.
• Oskarsson B, Gendron TF, Staff NP. Amyotrophic Lateral Sclerosis: An Update for 2018. Mayo Clin Proc. 2018 Nov;93(11):1617-1628. doi: 10.1016/j.mayocp.2018.04.007. Epub 2018 Jul 4.
• Sances S, Bruijn LI, Chandran S, Eggan K, Ho R, Klim JR, Livesey MR, Lowry E, Macklis JD, Rushton D, Sadegh C, Sareen D, Wichterle H, Zhang SC, Svendsen CN. Modeling ALS with motor neurons derived from human induced pluripotent stem cells. Nat Neurosci. 2016 Apr;19(4):542-53. doi: 10.1038/nn.4273.
• Rowe RG, Daley GQ. Induced pluripotent stem cells in disease modelling and drug discovery. Nat Rev Genet. 2019 Jul;20(7):377-388. doi: 10.1038/s41576-019-0100-z.

Study record dates

Study Major Dates

• Study Start (Estimated): June 15, 2023
• Primary Completion (Estimated): December 31, 2024
• Study Completion (Estimated): December 31, 2024

Study Registration Dates

• First Submitted: May 16, 2023
• First Submitted That Met QC Criteria: May 28, 2023
• First Posted (Actual): June 7, 2023

Study Record Updates

• Last Update Posted (Actual): June 7, 2023
• Last Update Submitted That Met QC Criteria: May 28, 2023
• Last Verified: May 1, 2023

More Information

Terms related to this study

• Keywords: Amyotrophic lateral sclerosis
• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Sclerosis; Motor Neuron Disease; Amyotrophic Lateral Sclerosis
• Other Study ID Numbers: KY2023-013-02

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No