Rare Disease Registry Database for Movement Disorders in Southern Anhui Province (W-MoSCA)

According to the World Health Organization (WHO) definition, a rare disease is a disease affecting fewer than 6.5 people per 10,000; in China, it generally refers to diseases with a prevalence of less than 1/10,000 (i.e., with a total of no more than 140,000 patients). Such diseases are mostly hereditary or congenital in origin. Patients with rare diseases often present with complex symptoms, most of which are neurological. Although a large number of rare diseases have been identified, the small number of patients with each disease and the diversity of symptoms make early diagnosis difficult and render large-sample clinical trials challenging. Consequently, most rare diseases lack curative treatments; available therapies are of limited efficacy or prohibitive cost, ultimately leading to severe disability or death and imposing a substantial socioeconomic burden. This study establishes a registry for motor neuron diseases (MND), spinocerebellar ataxias (SCAs), hereditary muscular dystrophy (HMD), and hereditary spastic paraplegia (HSP). Owing to the low incidence, complex clinical diagnosis, unclear pathogenic mechanisms, and strong genetic heterogeneity, epidemiological data on rare motor neuron diseases are limited, further increasing the difficulty of biomarker screening and targeted therapeutic development. Therefore, there is an urgent need to establish a comprehensive registry and to obtain reliable evidence on risk factors and early diagnosis through research. This study aims to establish a registry of rare neurological diseases in the southern Anhui Province and to build a high-quality biobank of human biological resources.

Study Overview

• Status: Recruiting
• Conditions: Spinocerebellar Ataxias; Hereditary Spastic Paraplegia; Motor Neuron Diseases; Hereditary Muscular Dystrophy

• Study Type: Observational
• Enrollment (Estimated): 180

Contacts and Locations

• Study Contact: Name: Xianjin Shang, Prof.; Phone Number: 86 151 5530 0503; Email: shangxj2013@wnmc.edu.cn

Study Locations

• China
  • Anhui
    • Wuhu, Anhui, China, 241001
      • Recruiting
      • First affiliated hospital of Wannan Medical University
      • Contact: Xianjin Shang, Prof.; Phone Number: 86 15155300503; Email: shangxj2013@wnmc.edu.cn

Participation Criteria

Eligibility Criteria

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

• Sampling Method: Non-Probability Sample

Study Population

These rare movement-related neurological diseases are all characterized primarily by gait abnormalities; although muscle weakness, ataxia, poor muscle endurance, and spastic paraplegia are their typical presentations, respectively, they share overlapping motor neurological symptoms and similar early clinical manifestations.

Description

Inclusion Criteria:

• Adults aged 19 years or older who are capable of giving informed consent.
• Definitive diagnosis of one of the following diseases: (1) amyotrophic lateral sclerosis (diagnosed according to the revised El Escorial criteria, Awaji criteria, or Gold Coast criteria); (2) spinocerebellar ataxia; (3) muscular dystrophy; (4) hereditary spastic paraplegia.
• Others: primary lateral sclerosis, progressive muscular atrophy, ALS-FTD syndrome, progressive bulbar palsy, benign focal muscular atrophy, and other motor neuron diseases.

Exclusion Criteria:

• Patients with concomitant systemic diseases;
• Vulnerable research subjects: minors and patients with cognitive impairment;
• Participants from whom clinical information and human biological samples cannot be collected;
• Other patients judged by the investigators to be unsuitable for participation in the study.

Study Plan

How is the study designed?

Design Details

• Observational Models: COHORT
• Time Perspectives: PROSPECTIVE

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort
Motor Neuron Diseases; Patient diagnosis, clinical assessment, treatment, and biological sample collection
spinocerebellar ataxia(SCAs); Patient diagnosis, clinical assessment, treatment, and biological sample collection
hereditary muscular dystrophy; Patient diagnosis, clinical assessment, treatment, and biological sample collection
hereditary spastic paraplegia; Patient diagnosis, clinical assessment, treatment, and biological sample collection

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Amyotrophic Lateral Sclerosis Functional Rating Scale (K-ALSFRS-R)	Total score: 0 to 48 points 48 points: completely normal function 0 points: complete loss of function in the corresponding dimension. The lower the score, the more severe the functional disability.	through study completion, an average of 3 months
Hereditary spastic paraplegia (HSP): Spastic Paraplegia Rating Scale (SPRS)	Including 13 items, each item is scored from 0 to 4 (0 = normal, 4 = most serious impairment) Total score: 0 to 52 points; the higher the score, the more serious the condition	through study completion, an average of one year
Scale for the Assessment and Rating of Ataxia (SARA)	Including 8 items, each item has a different maximum score. Total score: 0 to 40 points; the higher the score, the more severe the ataxia. 0 points: no ataxia. 40 points: the most severe ataxia.	through study completion, an average of one year
6-minute walk test for hereditary muscular dystrophy	The subjects walked continuously for 6 minutes as fast and safely as possible in a flat hard corridor; they can use the patient's daily walkers, crutches, and orthopedic braces; they are allowed to stop and rest in the middle (timer does not stop), and the total walking meters PMC is recorded at the end of 6 minutes.	through study completion, an average of 1 year

Collaborators and Investigators

• Sponsor: First Affiliated Hospital of Wannan Medical College

Publications and helpful links

General Publications

• Cao Y, Zheng H, Zhu Z, Yao L, Tian W, Cao L. Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia. Mov Disord. 2024 Apr;39(4):651-662. doi: 10.1002/mds.29728. Epub 2024 Jan 31.
• Tong YR, Geng C, Guan YZ, Zhao YH, Ren HT, Yao FX, Ling C, Wang DC, Chen L, Cui LY, Zhang SY, Dai Y. A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center. Front Neurol. 2020 Sep 30;11:572006. doi: 10.3389/fneur.2020.572006. eCollection 2020.
• Xu L, Chen L, Wang S, Feng J, Liu L, Liu G, Wang J, Zhan S, Gao P, Fan D. Incidence and prevalence of amyotrophic lateral sclerosis in urban China: a national population-based study. J Neurol Neurosurg Psychiatry. 2020 May;91(5):520-525. doi: 10.1136/jnnp-2019-322317. Epub 2020 Mar 5.

Study record dates

Study Major Dates

• Study Start (Actual): September 30, 2026
• Primary Completion (Estimated): September 1, 2029
• Study Completion (Estimated): September 1, 2029

Study Registration Dates

• First Submitted: September 17, 2026
• First Submitted That Met QC Criteria: September 23, 2026
• First Posted (Actual): September 24, 2026

Study Record Updates

• Last Update Posted (Actual): October 23, 2026
• Last Update Submitted That Met QC Criteria: October 22, 2026
• Last Verified: October 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Neurologic Manifestations; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Peripheral Nervous System Diseases; Neurodegenerative Diseases; Congenital Abnormalities; Heredodegenerative Disorders, Nervous System; Spinal Cord Diseases; Nervous System Malformations; Dyskinesias; Polyneuropathies; Cerebellar Diseases; Cerebellar Ataxia; Spinocerebellar Degenerations; Hereditary Sensory and Motor Neuropathy; Ataxia; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Motor Neuron Disease; Spinocerebellar Ataxias; Spastic Paraplegia, Hereditary
• Other Study ID Numbers: W-MoSCA2026200

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