Assessment of Neurological Manifestations in Gaucher Disease Patients

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

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

Study Overview

• Status: Not yet recruiting
• Conditions: Gaucher Disease

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")

• Study Type: Observational
• Enrollment (Anticipated): 45

Contacts and Locations

• Study Contact: Name: Gehan Galal; Phone Number: 01011087742; Email: gehangalal2030@gmail.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Non-Probability Sample

Study Population

Gaucher disease patients from age 1m to age 18y with neurological manifestations

Description

Inclusion Criteria:

• Diagnosis of Gaucher Disease

Exclusion Criteria:

• Not meeting Inclusion criteria

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of participants with neurological disorders in pediatric patients diagnosed as Gaucher disease	Types of neurological disorders in patients with Gaucher disease	Baseline

Collaborators and Investigators

• Sponsor: Assiut University
• Investigators: Principal Investigator: Mohamed Ghazaly, Prof, Assiut University; Principal Investigator: Mostafa Embaby, Prof, Assiut University

Study record dates

Study Major Dates

• Study Start (Anticipated): April 20, 2023
• Primary Completion (Anticipated): April 1, 2024
• Study Completion (Anticipated): April 11, 2025

Study Registration Dates

• First Submitted: March 30, 2023
• First Submitted That Met QC Criteria: April 14, 2023
• First Posted (Actual): April 18, 2023

Study Record Updates

• Last Update Posted (Actual): April 18, 2023
• Last Update Submitted That Met QC Criteria: April 14, 2023
• Last Verified: April 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Neurologic Manifestations; Gaucher Disease
• Other Study ID Numbers: Neurological signs in Gaucher

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No