Rare Disease Registry Database for Movement Disorders in Southern Anhui Province

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.

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Key information

Conditions

Motor Neuron Diseases Ataxia Brain Diseases Central Nervous System Diseases Cerebellar Ataxia Cerebellar Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dyskinesias Genetic Diseases, Inborn Hereditary Muscular Dystrophy Hereditary Sensory and Motor Neuropathy Hereditary Spastic Paraplegia Heredodegenerative Disorders, Nervous System Motor Neuron Disease Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neurologic Manifestations Neuromuscular Diseases Peripheral Nervous System Diseases Polyneuropathies Spastic Paraplegia, Hereditary Spinal Cord Diseases Spinocerebellar Ataxias Spinocerebellar Degenerations

Sex eligibility

All sexes

Study type

Observational

Primary location

First affiliated hospital of Wannan Medical University

Wuhu, Anhui, 241001, China

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

Amyotrophic Lateral Sclerosis Functional Rating Scale (K-ALSFRS-R)

Time frame: through study completion, an average of 3 months

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.
Hereditary spastic paraplegia (HSP): Spastic Paraplegia Rating Scale (SPRS)

Time frame: through study completion, an average of one year

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
Scale for the Assessment and Rating of Ataxia (SARA)

Time frame: through study completion, an average of one year

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.
6-minute walk test for hereditary muscular dystrophy

Time frame: through study completion, an average of 1 year

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.

Interested in participating?

Active, not recruiting

This study is active but is not currently recruiting participants.

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Sponsors and collaborators

Lead sponsor

First Affiliated Hospital of Wannan Medical College

Other

Registry information

Acronym: W-MoSCA

Important dates

Study start: 2026
Primary completion: 2029
Study completion: 2029
First posted: Sep 24, 2026
Registry last updated: Sep 24, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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