Rare Disease Registry Database for Movement Disorders in Southern Anhui Province

Condition(s) studied

Study summary

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.

Eligibility

Primary outcome measure(s)

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

Trial sites (1)

More First Affiliated Hospital of Wannan Medical College trials in China

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