What side effects are associated with this type of intervention?

Common treatments for Gaucher Disease include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). ERT, such as imiglucerase, can cause side effects like infusion reactions, including fever, headache, and allergic reactions. SRT, such as eliglustat, may lead to side effects like fatigue, headache, nausea, and diarrhea. Both treatments aim to reduce the accumulation of glucocerebroside, which can help manage oxidative stress and inflammation markers in patients.

What prior FDA approvals exist?

The FDA has approved several treatments for Gaucher Disease, primarily focusing on enzyme replacement therapies (ERT) and substrate reduction therapies (SRT). ERTs such as imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso) are designed to replace the deficient enzyme glucocerebrosidase. SRTs like miglustat (Zavesca) and eliglustat (Cerdelga) work by reducing the production of glucocerebroside, the substance that accumulates in Gaucher cells. These treatments help manage the symptoms and complications associated with Gaucher Disease, including those related to oxidative stress and inflammation.

What other types of research exist?

Promising novel alternatives to observational measurement for Gaucher Disease patients include: 1) Advanced imaging techniques such as magnetic resonance imaging (MRI) and positron emission tomography (PET) scans, which can provide detailed information on organ involvement and disease progression. 2) Genomic and proteomic profiling, which can offer insights into individual patient responses to therapy and disease mechanisms. 3) Biomarker panels using blood or urine samples to monitor disease activity and treatment efficacy more precisely. 4) Digital health technologies, including wearable devices and mobile health applications, which can continuously monitor patient health metrics and provide real-time data to healthcare providers.

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Mucolytic Agent

N-acetylcysteine for Gaucher Disease

Phase 2

Recruiting

Led By Reena V. Kartha, PharmD

Research Sponsored by University of Minnesota

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

GD1 patients must be on a stable, specific ERT and/or SRT therapy at a specific dose for at least 2 years.

All participants must be 18 years or older.

Must not have

Women who are pregnant or lactating or of child-bearing age who are not using acceptable forms of contraception.

History of asthma that is presently being treated.

Timeline

Screening 3 weeks

Treatment Varies

Follow Up baseline, 45 days, 90 days, 120 days, 150 days, 180 days, and 270 days

Awards & highlights

No Placebo-Only Group

Summary

This trial is testing if a pill called NAC can help people with Type 1 Gaucher disease by reducing harmful processes in their bodies. The study includes both patients with the disease and healthy volunteers to compare results. Researchers hope this will lead to better treatments for the disease.

Who is the study for?

This study is for adults over 18 with stable Type 1 Gaucher disease (GD1) who have been on consistent enzyme replacement or substrate reduction therapy for at least two years. Healthy volunteers matched by age can also join. Participants must not be pregnant, lactating, using certain antioxidants, or have conditions like asthma being treated currently.

What is being tested?

The trial is investigating the effect of N-acetylcysteine on oxidative stress and inflammation in individuals with GD1 compared to healthy volunteers. It measures blood and brain chemicals to see if levels are different due to GD1.

What are the potential side effects?

Potential side effects from N-acetylcysteine may include allergic reactions for those sensitive to it; however, specific side effects related to this trial are not detailed.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I have been on the same enzyme or substrate replacement therapy for at least 2 years.

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I am 18 years old or older.

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I haven't taken coenzyme Q-10, vitamin C, or E for the last 3 weeks.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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I am not pregnant, breastfeeding, and if of child-bearing age, I am using effective birth control.

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I am currently receiving treatment for my asthma.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ baseline, 45 days, 90 days, 120 days, 150 days, 180 days, and 270 days

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~baseline, 45 days, 90 days, 120 days, 150 days, 180 days, and 270 days

This trial's timeline: 3 weeks for screening, Varies for treatment, and baseline, 45 days, 90 days, 120 days, 150 days, 180 days, and 270 days for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Change in subjects with Gaucher disease type 1, in concentration of glutathione in brain (μmol/g)

Secondary study objectives

Change in healthy volunteers, in concentration of TNF-alpha in plasma (pg/mL)

Change in healthy volunteers, in concentration of glutathione in blood (μmol/g)

Change in subjects with Gaucher disease type 1, in concentration of N-acetylcysteine (NAC) in blood (µg/ml)

+5 more

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups

Experimental Treatment

Group I: N-acetylcysteineExperimental Treatment1 Intervention

The first 10 GD1 subjects will take 1800mg NAC twice daily (3600mg/day) orally for approximately 90 days. An interim analysis will be performed to determine if this dose produces changes in systemic redox status and brain glutathione (GSH) levels. If no signal of a significant change is observed, the remaining 20 subjects will receive up to 3600 mg NAC orally twice a day (7200 mg/day).

Treatment

First Studied

Drug Approval Stage

How many patients have taken this drug

N-acetylcysteine

2008

Completed Phase 4

~1290

0 / 5Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Gaucher Disease treatments primarily include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). ERT works by supplementing the deficient enzyme glucocerebrosidase, which helps break down the accumulated glucocerebroside in tissues. SRT, on the other hand, reduces the production of glucocerebroside, thereby preventing its accumulation. These treatments are essential as they address the root cause of the disease, reducing oxidative stress and inflammation, which are significant contributors to the disease's symptoms and complications. This understanding helps patients appreciate how these therapies can improve their health and quality of life.