An observational study in Motor Neuron Diseases, Spinocerebellar Ataxias and Hereditary Muscular Dystrophy, sponsored by First Affiliated Hospital of Wannan Medical College. Recruiting at 1 site in China. Per ClinicalTrials.gov, last updated 2026-10-23.
Sponsored by First Affiliated Hospital of Wannan Medical College · Observational
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.
94 studies on the registry are indexed under Spinocerebellar Ataxias; 24 are open to participants now.
This study's planned enrollment of 180 is above the median of 128 across 25 observational studies indexed under Spinocerebellar Ataxias.
Browse Spinocerebellar Ataxias studies →First Affiliated Hospital of Wannan Medical College is the lead sponsor of 37 studies on the registry; 34 are open to participants now.
Compared within Spinocerebellar Ataxias, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Motor Neuron Disease. The counts are of registry records indexed under each term, refreshed daily. How we classify →
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patient diagnosis, clinical assessment, treatment, and biological sample collection
Patient diagnosis, clinical assessment, treatment, and biological sample collection
Patient diagnosis, clinical assessment, treatment, and biological sample collection
Patient diagnosis, clinical assessment, treatment, and biological sample collection
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.
Time frame: 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
Time frame: 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.
Time frame: 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.
Time frame: through study completion, an average of 1 year
Plan to share: No
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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First Affiliated Hospital of Wannan Medical College