Gaucher DiseaseNCT05816993
Assessment of Neurological Manifestations in Gaucher Disease Patients
An observational study of Gaucher Disease, run by Assiut University.
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 Read more about this study
- Who is it for?
- Ages 1 month to 18 years
- Conditions the study is for
- Gaucher Disease
- How many people
- 45 participants
- Where
- No sites listed yet
- Study dates
- 20 Apr 2023to 11 Apr 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 18 years
- All sexes
- Child, Adult
Study population: Gaucher disease patients from age 1m to age 18y with neurological manifestations
Who may be able to join
- Diagnosis of Gaucher Disease
Who cannot join
- Not meeting Inclusion criteria
Trial locations and contacts
No sites are listed yet.
About this study
Official title: 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
Read the 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")
- Conditions
- Gaucher Disease
- Medical subject headings
- Gaucher Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants with neurological disorders in pediatric patients diagnosed as Gaucher disease
Types of neurological disorders in patients with Gaucher disease
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Apr 2023
- Study start20 Apr 2023 (estimated)
- Primary completion1 Apr 2024 (estimated)
- Study completion11 Apr 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher DiseaseStudies of the same condition, open and under way.
- More trials run by Assiut UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 45 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Gehan Mohamed Galal, Assiut University
- Investigators
- Mohamed Ghazaly, Prof, Principal investigator, Assiut UniversityMostafa Embaby, Prof, Principal investigator, Assiut University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05816993
- Sponsor's protocol ID
- Neurological signs in Gaucher
- Status last verified
- Apr 2023
- First submitted
- 30 Mar 2023
- Last updated
- 18 Apr 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Apr 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Assessment of Neurological Manifestations in Gaucher Disease Patients Attending Assiut University Children's Hospital
- ClinicalTrials.gov ID
- NCT05816993
- Acronym / sponsor ID
- Neurological signs in Gaucher
- Conditions
- Gaucher Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 45 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- 20 Apr 2023 (estimated)
- Primary completion
- 1 Apr 2024 (estimated)
- Study completion
- 11 Apr 2025 (estimated)
- First posted
- 18 Apr 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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")
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- 1 month to 18 years
- Sex
- All
- Age groups
- Child, Adult
- Study population
- Gaucher disease patients from age 1m to age 18y with neurological manifestations
Key inclusion criteria (1 listed)
- Diagnosis of Gaucher Disease
Key exclusion criteria (1 listed)
- Not meeting Inclusion criteria
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of participants with neurological disorders in pediatric patients diagnosed as Gaucher disease
Time frame: Baseline
Types of neurological disorders in patients with Gaucher disease
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Apr 2023.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Mohamed Ghazaly, Prof principal investigator
Assiut University
Mostafa Embaby, Prof principal investigator
Assiut University
Questions about this trial
What is this clinical trial studying?
An observational study of Gaucher Disease, run by Assiut University.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 18 Apr 2023. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Gehan Galal (01011087742, gehangalal2030@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of participants with neurological disorders in pediatric patients diagnosed as Gaucher disease (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Apr 2023.