Rare Disease Registry Database for Movement Disorders in Southern Anhui Province

Overview

Official title

Rare Disease Registry Database for Movement Disorders in Southern Anhui Province

Brief title

Rare Disease Registry Database for Movement Disorders in Southern Anhui Province

Registration type

ClinicalTrials.gov

NCT number

NCT07838883

Status

Active, not recruiting

Study category

Observational, Biomarker, Genetic, Biospecimen, ALS/FTD

Sponsor / center

First Affiliated Hospital of Wannan Medical College

Research center

Not stated in the official study record.

Collaborators

Not stated in the official study record.

Study type

Observational study

Phase

Not applicable / observational

Enrollment

180

Start date

08-25-2026

Primary completion date

09-XX-2029

Estimated / actual completion date

09-XX-2029

Last source update

09-24-2026

What is being studied?

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.

Intervention(s)

Not stated in the official study record.

Who may be eligible?

This is a simplified summary. The official study team or research center determines eligibility.

Population / disease status

ALS-FTD where applicable, Diagnosed ALS

Diagnosis / conditions

Motor Neuron Diseases, Spinocerebellar Ataxias, Hereditary Muscular Dystrophy, Hereditary Spastic Paraplegia

Age

Not stated in the official study record. to Not stated in the official study record.

Disease duration

Not stated in the official study record.

Respiratory criteria

Not stated in the official study record.

ALSFRS-R criteria

Not stated in the official study record.

Genetic criteria

Not stated in the official study record.

Medication requirements

Not stated in the official study record.

Major inclusion and exclusion criteria from the official record

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.

Genetics

Gene-specific study?

No

Gene or variant

Any / Not gene-specific

Genetic test required?

Not stated in the official study record.

Known carrier required?

Not stated

Confirmed pathogenic variant required?

Not stated in the official study record.

Presymptomatic carriers eligible?

Not stated in the official study record.

At-risk relative eligible?

Not stated

Genetic test provided?

Not stated in the official study record.

Genetic counseling provided?

Not stated in the official study record.

Results returned / offered?

Not stated

Family history required?

Not stated in the official study record.

Study design

Randomized?

Not stated in the official study record.

Allocation

Not stated in the official study record.

Intervention model

Not stated in the official study record.

Masking

Not stated in the official study record.

Placebo

Not stated in the official study record.

Primary purpose

Not stated in the official study record.

Endpoints

Primary outcome measures

• Amyotrophic Lateral Sclerosis Functional Rating Scale (K-ALSFRS-R)
• Hereditary spastic paraplegia (HSP): Spastic Paraplegia Rating Scale (SPRS)
• Scale for the Assessment and Rating of Ataxia (SARA)
• 6-minute walk test for hereditary muscular dystrophy

Secondary outcome measures

Not stated in the official study record.

A biomarker outcome should not automatically be interpreted as a clinical outcome.

Locations

Contact

Central contact: Not stated in the official study record.