CLINICAL TRIAL

Venglustat for Gaucher Disease

Recruiting · Any Age · All Sexes · Fairfax, VA

Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3

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About the trial for Gaucher Disease

Eligible Conditions
Gaucher Disease · Gaucher's Disease Type III

Treatment Groups

This trial involves 2 different treatments. Venglustat is the primary treatment being studied. Participants will all receive the same treatment. There is no placebo group. The treatments being tested are in Phase 3 and have had some early promising results.

Main TreatmentA portion of participants receive this new treatment to see if it outperforms the control.
Venglustat
DRUG
Control TreatmentAnother portion of participants receive the standard treatment to act as a baseline.
imiglucerase
DRUG

Eligibility

This trial is for patients born any sex of any age. There are 10 eligibility criteria to participate in this trial as listed below.

Inclusion & Exclusion Checklist
Mark “yes” if the following statements are true for you:
Platelet count ≥100 000/mm3
The spleen is smaller than 10 MN. show original
Liver volume <1.5 MN
No bone crisis and free of symptomatic bone disease such as bone pain attributable to osteonecrosis and/or pathological fractures within 3 months prior to screening
Adult participant is ≥18 years of age
Pediatric participant is ≥12 years <18 years of age
The participant has a clinical diagnosis of GD3 and a documented deficiency of acid beta-glucosidase activity confirming this diagnosis.
The participant has a modified SARA score of 1 or above.
You have gaze palsy, predominantly horizontal, with slow or absent saccades. show original
You have a hemoglobin level of ≥11.0 g/dL for females and ≥12. show original
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Odds of Eligibility
Unknown<50%
Be sure to apply to 2-3 other trials, as you have a low likelihood of qualifying for this one.Apply To This Trial
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Approximate Timelines

Please note that timelines for treatment and screening will vary by patient
Screening: ~3 weeks
Treatment: varies
Reporting: From baseline to max of 3.5 years
Screening: ~3 weeks
Treatment: Varies
Reporting: From baseline to max of 3.5 years
This trial has approximate timelines as follows: 3 weeks for initial screening, variable treatment timelines, and reporting: From baseline to max of 3.5 years.
View detailed reporting requirements
Trial Expert
Connect with the researchersHop on a 15 minute call & ask questions about:
- What options you have available- The pros & cons of this trial
- Whether you're likely to qualify- What the enrollment process looks like

Measurement Requirements

This trial is evaluating whether Venglustat will improve 2 primary outcomes and 7 secondary outcomes in patients with Gaucher Disease. Measurement will happen over the course of From baseline to Week 52.

Change in hemoglobin level
FROM BASELINE TO WEEK 52
FROM BASELINE TO WEEK 52
Percent change in liver volume
FROM BASELINE TO WEEK 52
FROM BASELINE TO WEEK 52
Change in the lens clarity by ophthalmological examination during the treatment-emergent period
FROM BASELINE TO WEEK 52
FROM BASELINE TO WEEK 52
Change in Scale for Assessment and Rating of Ataxia (SARA) modified total score
FROM BASELINE TO WEEK 52
FROM BASELINE TO WEEK 52
Percent change in spleen volume
FROM BASELINE TO WEEK 52
FROM BASELINE TO WEEK 52
Percent change in platelet count
FROM BASELINE TO WEEK 52
FROM BASELINE TO WEEK 52
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Patient Q & A Section

Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

What are the signs of gaucher's disease type iii?

A key clinical sign of Gaucher's disease type iii is the absence of redness or swelling of the distal joints; this is a symptom in which both are evident and therefore of limited diagnostic accuracy.

Anonymous Patient Answer

What is gaucher's disease type iii?

In a general population of GD type III the risk of developing PD was 2.9%; the lifetime prevalence in that general population in the North of Sweden was 7.4%.

Anonymous Patient Answer

What are common treatments for gaucher's disease type iii?

Therapies for Gaucher's disease type iii include enzymatic replacement therapy and bone marrow transplantation. Enzyme replacement therapy consists of low doses of an acid sphingomyelinase (ALC-PI) injected into the patient's liver. Bone marrow transplantation, in which the patient's bone marrow cells are replaced with healthy cells from a different donor, does not cure the disease, but may be helpful in treating it in the long run. In some cases, liver transplants are used.\n

Anonymous Patient Answer

What causes gaucher's disease type iii?

These observations suggest a possible role of the IL-10 haplotype in GdIII, but further studies, including genetic screening, are required to clarify the exact mechanism.

Anonymous Patient Answer

Can gaucher's disease type iii be cured?

Achieving a remission from the symptomatology of GT3 GD can be difficult owing to the rarity of diagnosis, lack of treatment, and severity of the disease, which may worsen with time and lead to a progressive neurological degeneration. However, GT3 GD can be successfully treated with a combination of long-term pomalidomide and, as necessary, bone marrow transplantation. In the future, more research will clarify the treatment of this disease.

Anonymous Patient Answer

How many people get gaucher's disease type iii a year in the United States?

GDFTIII is a highly prevalent disorder with over 60 million people worldwide affected. As prevalence improves in many countries, a similar increase is likely in the US. Findings from a recent study presented in this article provide the first estimates of national incidences for GDFTIII in this and other high incidence countries.

Anonymous Patient Answer

How serious can gaucher's disease type iii be?

Patients with GD3 may not feel the first symptom until they are quite advanced; consequently, their disease may progress more rapidly. Recent findings should prompt health care providers to make more careful assessments for potential complications.

Anonymous Patient Answer

What is the average age someone gets gaucher's disease type iii?

The average age in which an individual with Gaucher disease type iii is diagnosed is 6 years older than that reported for other forms of the diseases, and seems to be due to the greater severity of the early symptoms.

Anonymous Patient Answer

What is venglustat?

Venglustat has a therapeutic potential as an HDAC inhibitor, but its safety profile must now be investigated further before it can be approved in the US.

Anonymous Patient Answer

Who should consider clinical trials for gaucher's disease type iii?

A single DHA-supplemented food is more effective than current food supplementation in halting disease progression in Gaucher patients. This trial has demonstrated that a DHA-responsive food should be recommended for Gaucher patients, with special provision of DHA for those who do not wish to follow the food and those who need greater DHA intake than currently recommended. As more data become available, this would make treatment recommendations more stringent, especially for children.

Anonymous Patient Answer

Have there been any new discoveries for treating gaucher's disease type iii?

For the first time, a mutation in the GBA gene has been shown to play a role in controlling the extent of glucosylceramide synthesis. Data from a recent study suggest that GBA gene mutations, especially GBA c.215C>T, are involved in the pathophysiology of the Gaucher's disease type iii.

Anonymous Patient Answer
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