Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children
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|ClinicalTrials.gov Identifier: NCT03649919|
Recruitment Status : Not yet recruiting
First Posted : August 28, 2018
Last Update Posted : February 11, 2020
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.
|Condition or disease|
|Xlsma DMD X-ALD TSC|
|Study Type :||Observational|
|Estimated Enrollment :||500 participants|
|Official Title:||Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children|
|Estimated Study Start Date :||October 30, 2020|
|Estimated Primary Completion Date :||October 30, 2021|
|Estimated Study Completion Date :||December 30, 2021|
1 spinal muscular atrophy, SMA
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.
Progressive muscular dystrophy (DMD) is a group of hereditary skeletal muscle degeneration diseases. It is clinically characterized by slow and progressive development of muscle atrophy and muscle weakness. The inheritance can be divided into sexual chain recessiveness. Genetic type. For children with high suspected DMD/BMD, the current DMD diagnosis is preferred by MLPA method for detection of DNA in peripheral blood; MLPA diagnostic kit can only detect about 65% of large gene deletions or repeat types, thus detecting undetected gene mutations.
3 X-linked adrenoleukodystrophy X-ALD
X-linked adrenoleukodystrophy X-ALD is an X-linked episode of a group of diseases characterized by progressive central nervous system demyelination and adrenal insufficiency. About 1/20000 male children. Most cases of X-ALD are treated for neurological symptoms for the first time, most of them start from 3-10 years old. Early manifestations include slow mental function, decreased academic performance, lack of interest or hyperactivity, difficulty in speech, difficulty in articulation, etc. Visual impairment and progressive hemiplegia are more common symptoms.
4 tuberous sclerosis complex，TSC
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease involving multiple systems. About 1 in every 6,000-10,000 people in TSC suffer from tuberous sclerosis, and children in the neurology department are diagnosed with developmental delay or seizures, and about 2/3 have no positive family history. Nearly 2 million people worldwide suffer from TSC, and there are about 200,000 in China.
- spinal muscular atrophy, SMA [ Time Frame: from birth, to 18 years old ]Diagnosed based on the clinical criteria and genetic analysis. The details clinical diagnosis refer to the inclusion criteria. The genetic diagnosis of a Spinal Muscular Atrophy is established in a patient by identification of a homozygous absence of SMN1 exon 7 using SMA MLPA test (MRC-holland P021-A2).
- DMD [ Time Frame: from birth, to 18 years old ]Diagnosed based on the clinical criteria and genetic analysis. The details clinical diagnosis refer to the inclusion criteria. The genetic diagnosis of a Dystrophinopathy is established in a male patient by identification of a hemizygous pathogenic variant (including exon or whole-gene deletions/duplications, intragenic deletions/insertions, missense, nonsense, and splice site variants) in DMD gene using a multigene panel sequencing test (Agilent ClearSeq Inherited Disease panel kit).
- X-linked adrenoleukodystrophy X-ALD [ Time Frame: from birth, to 18 years old ]Diagnosed based on the clinical criteria and the details clinical diagnosis refer to the inclusion criteria.
- tuberous sclerosis complex，TSC [ Time Frame: from birth, to 18 years old ]Diagnosed based on the clinical criteria and genetic analysis. The details clinical diagnosis refer to the inclusion criteria. The genetic diagnosis of a TSC is established in a patient by identification of a heterozygous pathogenic variant (including exon or whole-gene deletions, intragenic deletions/insertions, missense, nonsense, and splice site variants) in TSC1 or TSC2 using a multigene panel sequencing test (Agilent ClearSeq Inherited Disease panel kit).
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03649919
|Contact: Shuizhen Zhou, MDfirstname.lastname@example.org|
|Contact: Liling Qian, PhDemail@example.com|
|Children's Hospital of Fudan University|
|Shanghai, China, 201102|