Assessment of Neurological Manifestations in Gaucher Disease Patients

Gaucher Disease Clinical Trial

Official title:

Assessment of Neurological Manifestations in Gaucher Disease Patients Attending Assiut University Children's Hospital

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05816993
• Other study ID #: Neurological signs in Gaucher
• Status: Not yet recruiting
• Start date: April 20, 2023
• Est. completion date: April 11, 2025

Study information

• Verified date: April 2023
• Source: Assiut University
• Contact: Gehan Galal
• Phone: 01011087742
• Email: gehangalal2030[@]gmail.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

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")

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 45
• Est. completion date: April 11, 2025
• Est. primary completion date: April 1, 2024
• Gender: All
• Age group: 1 Month to 18 Years

Eligibility

Inclusion Criteria:

• Diagnosis of Gaucher Disease

Exclusion Criteria:

• Not meeting Inclusion criteria

Related Conditions & MeSH terms

• Gaucher Disease
• Neurologic Manifestations

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Assiut University

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of participants with neurological disorders in pediatric patients diagnosed as Gaucher disease	Types of neurological disorders in patients with Gaucher disease	Baseline