Clinical trial NCT05816993: Assessment of Neurological Manifestations in Gaucher Disease Patients
Official title: Assessment of Neurological Manifestations in Gaucher Disease Patients Attending Assiut University Children's Hospital
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Gaucher Disease
Lead sponsor: Assiut University
Sponsor class: OTHER
First posted: 2023-04-18
Enrollment: 45
Sex: ALL
Minimum age (years): 1
Maximum age (years): 18
Standard ages: CHILD
ADULT
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Gaucher disease patients from age 1m to age 18y with neurological manifestations

Brief summary: The current work aims to detect the frequency and types of neurological disorders in patient diagnosed as Gaucher disease in Assiut University Children's Hospital

Detailed description: Gaucher disease, the most common lysosomal storage disorder, caused by reduced activity of acid β-glucosidase and mutations in the GBA1 gene. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. The determination of deficient β-glucocerebrosidase activity in leukocytes or fibroblasts by enzymatic assay is the gold standard for the diagnosis of Gaucher disease. Clinically, Gaucher disease is classified into three major forms based upon the absence or presence and rate of progression of neurological manifestations : type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). The nGD forms are Gaucher disease type 2 (GD2) and Gaucher disease type 3 (GD3). GD2 is the acute neuronopathic form and has an early onset CNS involvement, typically manifesting in the first 6 months of life and leading to death by age 2 years, although patients may live up to age 4 years or beyond with supportive medical care. GD3, or the chronic neuronopathic form, has a slightly later onset, CNS symptoms typically manifesting months to years after birth, and has a much slower neurological progression than is seen in GD2. GD3 is the predominant form of Gaucher disease. Phenotypically, there is a wide spectrum of visceral and neurological manifestations. Enzyme replacement therapy has been shown to be effective in reducing glucocerebroside storage burden and diminishing the deleterious effects caused by its accumulation. Enzyme replacement is effective in managing the visceral disease; however, treating the neurological manifestations has proved to be more challenging. Currently, there is no agreement on a definition of nGD, other than one by exclusion ("the presence of neurological involvement in a patient with biochemically proven Gaucher disease, for which there is no explanation other than Gaucher disease")

Eligibility criteria: Inclusion Criteria:

* Diagnosis of Gaucher Disease

Exclusion Criteria:

* Not meeting Inclusion criteria

Primary outcomes:
measure: Number of participants with neurological disorders in pediatric patients diagnosed as Gaucher disease
timeFrame: Baseline
Secondary outcomes:
Other outcomes:
Locations:
Study officials:
affiliation: Assiut University
name: Mohamed Ghazaly, Prof
role: PRINCIPAL_INVESTIGATOR
affiliation: Assiut University
name: Mostafa Embaby, Prof
role: PRINCIPAL_INVESTIGATOR
References: