Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children

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Brief Title

Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children

Official Title

Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children

Brief Summary

      The incidence of rare diseases is extremely low, the disease is numerous, the symptoms are
      serious, and the detection technology is complicated. Countries have different definitions of
      rare diseases. The definition of rare diseases in China is defined as: diseases with a
      prevalence of less than 1 in 500 000 or newborns with an incidence of less than 1/10 000 are
      rare diseases. Due to the low incidence of rare diseases and the accumulation of multiple
      organs and systems in most diseases, clinicians lack comprehensive and systematic
      understanding. Patients often face great difficulties in seeking medical treatment and
      diagnosis. Currently, there is a lack of systematic and rare diseases in China. Management,
      diagnosis and treatment of rare diseases, making the diagnosis of rare diseases, prevention
      interventions seriously lagging behind, obviously behind the management of developed
      countries and regions; rare diseases are mostly related to genetic variation, with the
      clinical application of genetic diagnosis technology, more and more Many genetically related
      rare diseases have been diagnosed at an early stage; at present, precision medicine is
      rapidly developing, and more and more rare disease clinical trials have entered the country,
      bringing prospects for the treatment of rare diseases. For this reason, the management of
      rare diseases is particularly important.

      At present, some rare diseases of the nervous system can be treated early; for example,
      immune-related rare diseases have common normative immunotherapy and functional disability
      prevention, and the characteristics of single disease management of each disease; hereditary
      degenerative rare diseases such as progressive 2-3 multi-center clinical trials of spinal
      muscular atrophy and progressive muscular dystrophy have been entered into our hospital (in
      our hospital), X-linked pre-diagnosis of adrenal malnutrition genetic diseases, and
      appropriate treatment time is selected. Stem cell transplantation is in research and
      planning; the long-term management and comprehensive treatment of nodular sclerosis and
      Dravet syndrome are important for the prevention and treatment of diseases; therefore, the
      early diagnosis, pathogenesis and standardized treatment of rare diseases of the nervous
      system are urgent. And necessity.

Study Type


Primary Outcome

spinal muscular atrophy, SMA



Study Arms / Comparison Groups

 1 spinal muscular atrophy, SMA
Description:  Progressive muscular atrophy (SMA) is a group of autosomal recessive neuromuscular diseases characterized by degeneration of the anterior horn cells of the spinal cord, which is characterized by progressive generalized muscle weakness and muscle atrophy. The incidence of SMA is about 1/11000, and the occurrence of SMA is caused by mutation of the SMN1 gene. SMA can be classified into type I-III according to age of onset, maximum muscle activity, and survival.


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

September 30, 2021

Completion Date

December 30, 2021

Primary Completion Date

October 30, 2021

Eligibility Criteria

        1. SMA:

        Inclusion criteria: patients meet the all the following criteria:

          1. Clinically manifestation: hypotonia, progressive symmetric and proximal weakness
             affecting the legs more than the arms, sparing of the facial muscles but often with
             bulbar muscle weakness.

          2. Neurogenic EMG. EMG is also usually not needed in type 1 and 2 children; this
             investigation can help in more chronic forms in which the phenotype might be less

          3. Along with EMG and NCV test, a muscle or nerve biopsy can be used to diagnose spinal
             muscular atrophy if molecular genetic testing of SMN1 does not identify mutations.

          4. Genetic testing of SMN1/SMN2: Homozygous absence of exons 7 and 8 of the SMN1
             gene(96%), or only of exon 7, or other mutations. SMN2 copy numbers may vary. Genetic
             testing is the gold standard of diagnosis.

        Exclusion Criteria: None.


        2. DMD:

        Inclusion criteria: patients meet the all the following criteria:

          1. Clinically manifestation: weakness, clumsiness, a Gowers' sign, difficulty with stair
             climbing, or toe walking. developmental delay or increased concentrations of serum
             enzymes such as alanine aminotransferase, aspartate aminotransferase, lactate
             dehydrogenase, or very high creatine kinase level.

          2. Dystrophin gene mutation: dystrophin gene deletion and duplication testing is usually
             the first confirmatory test best done by MLPA or comparative genomic hybridisation
             array. Approximately 70% of individuals with DMD have a single-exon or multi-exon
             deletion or duplication in the dystrophin gene. If deletion or duplication testing is
             negative, genetic sequencing should be done to screen for the remaining types of
             mutations that are attributed to DMD (approximately 25-30%).

          3. Muscle biopsy: if genetic testing does not confirm a clinical diagnosis of DMD, then a
             muscle biopsy sample should be tested for the presence of dystrophin protein by
             immunohistochemistry of tissue cryosections or by western blot of a muscle protein
             extract. Muscle samples from DMD patient has no dystrophin present, while BMD Becker
             muscular dystrophy (with some partially functional dystrophin present).

        Exclusion Criteria: None. -

        3. X-ALD:

        Inclusion criteria: patients meet the all the following criteria:

        1. Clinically manifestation:

          1. Attention deficit disorder or hyperactivity; progressive impairment of cognition,
             behavior, vision, hearing, and motor function follow the initial symptoms and often
             lead to total disability within six months to two years.

          2. Adrenomyeloneuropathy (AMN) manifests as progressive stiffness and weakness of the
             legs, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical
             function; all symptoms are progressive over decades, most commonly in an individual in
             his twenties or middle age.

          3. Magnetic resonance imaging shows cerebral demyelination.

        2. Dystrophin gene mutation: The diagnosis of X-ALD is usually established in a female
        proband with detection of a heterozygous ABCD1 pathogenic variant and elevated VLCFA.

        Exclusion Criteria: None. -

        4. TSC:

        Inclusion criteria:patients meet the all the following criteria:

        A. Clinical diagnostic criteria:

          1. Major features: (1) Hypomelanotic macules (≥3, at least 5-mm diameter). (2)
             Angiofibromas (≥3) or fibrous cephalic plaque. (3) Ungual fibromas (≥2). (4) Shagreen
             patch. (5) Multiple retinal hamartomas. (6) Cortical dysplasias. (7) Subependymal
             nodules. (8) Subependymal giant cell astrocytoma. (9) Cardiac rhabdomyoma. (10)
             Lymphangioleiomyomatosis (LAM). (11) Angiomyolipomas (≥2).

          2. Minor features: (1)"Confetti" skin lesions. (2) Dental enamel pits (>3). (3) Intraoral
             fibromas (≥2). (4) Retinal achromic patch. (5) Multiple renal cysts. (6) Nonrenal

        Two major features or one major feature with ≥2 minor features can diagnose. Either one
        major feature or ≥2 minor features can diagnosis possibly.

        B. Genetic diagnostic criteria:

        The identification of either a TSC1 or TSC2 pathogenic mutation in DNA from normal tissue
        is sufficient to make a definite diagnosis of TSC.

        Exclusion Criteria: None.





N/A - 18 Years

Accepts Healthy Volunteers



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Location Countries


Location Countries


Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Children's Hospital of Fudan University


 Shanghai Children's Medical Center

Study Sponsor

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Verification Date

August 2021