Clinical Trials Logo

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


Clinical Trial 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 Design


Related Conditions & MeSH terms


NCT number NCT05816993
Study type Observational
Source Assiut University
Contact Gehan Galal
Phone 01011087742
Email gehangalal2030@gmail.com
Status Not yet recruiting
Phase
Start date April 20, 2023
Completion date April 11, 2025

See also
  Status Clinical Trial Phase
Withdrawn NCT04189601 - Complement Activation in the Lysosomal Storage Disorders
Completed NCT02536911 - A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate Phase 1
Completed NCT02536937 - A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate Phase 1
Completed NCT04430881 - A National Study in Patients With Unexplained Splenomegaly
Completed NCT01411228 - A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Phase 3
Terminated NCT04094181 - A Study of VPRIV in Participants With Gaucher Disease Previously Treated With Other Enzyme Replacement Therapies or Substrate Reduction Therapies
Completed NCT00391625 - Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT) Phase 1/Phase 2
Completed NCT03625882 - Survey Study for Velaglucerase Alfa (VPRIV) in Japan
Active, not recruiting NCT05526664 - Omics Gaucher Study: Multiomic Approach
Completed NCT02536755 - Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Completed Phase 2 or Phase 3 Studies Phase 3
Recruiting NCT01344096 - Thrombocytopathy in Gaucher Disease Patients N/A
Completed NCT01881633 - A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers Phase 1
Recruiting NCT06116071 - Biomarkers Related to Bone in Pediatric Gaucher Disease
Recruiting NCT01951989 - Intra-monocyte Imiglucerase Kinetics in Gaucher Disease Phase 2
Completed NCT00258778 - Phase I Single Dose-Escalation Safety Study of Human Glucocerebrosidase (prGCD) Phase 1
Recruiting NCT04388969 - World Data on Ambroxol for Patients With GD and GBA Related PD
Recruiting NCT05992532 - GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
Terminated NCT04145037 - Lentiviral Vector Gene Therapy - The Guard1 Trial of AVR-RD-02 for Subjects With Type 1 Gaucher Disease Phase 1/Phase 2
Completed NCT00302146 - Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations
Active, not recruiting NCT02605603 - SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease