What side effects are associated with this type of intervention?

N-Acetylmannosamine (ManNAc) is currently under clinical investigation for the treatment of GNE Myopathy. While specific side effects of ManNAc are not detailed in the provided context, treatments involving similar metabolic precursors generally aim to be well-tolerated. However, potential side effects could include gastrointestinal discomfort, metabolic imbalances, or allergic reactions. As with any investigational drug, long-term safety and efficacy are still being evaluated.

What prior FDA approvals exist?

Currently, there are no FDA-approved therapies specifically for GNE Myopathy. N-Acetylmannosamine (ManNAc), an orphan drug in development, is being studied for its efficacy and long-term safety in treating this condition. ManNAc is a precursor in Neu5Ac biosynthesis, which is crucial for glycan sialylation. Other treatments under clinical investigation include extended-release sialic acid, which also targets the Neu5Ac biosynthesis pathway.

What other types of research exist?

Based on the provided context, there are no direct alternatives to N-Acetylmannosamine (ManNAc) specifically mentioned for GNE Myopathy. However, exploring gene therapy approaches, such as adeno-associated virus (AAV) delivery systems used in other muscular dystrophies, might be a promising area of research. Additionally, proteasome inhibitors like MG-132, which have shown efficacy in rescuing dystrophin expression in Duchenne and Becker muscular dystrophies, could be investigated for their potential application in GNE Myopathy.

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Monosaccharide

ManNAc for GNE Myopathy (MAGiNE Trial)

Phase 2

Waitlist Available

Led By Francis Rossignol, MD

Research Sponsored by Leadiant Biosciences, Inc.

Eligibility Criteria Checklist

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

Must have

Subjects must have 10.00-65.99% of predicted muscle strength measured by QMA at screening in at least one of the selected muscle groups (ankle dorsiflexion, knee flexion, grip, shoulder abduction and elbow flexion)

Subject has a diagnosis of GNE myopathy based upon a consistent clinical course and biallelic GNE gene mutations that classify as pathogenic or likely pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines

Must not have

The presence of persistent diarrhea or malabsorption that could interfere with the subject's ability to absorb drugs or to tolerate ManNAc therapy

Subject with existing renal dysfunction, as defined by glomerular filtration rate (GFR) less than 60 mL/min/1.73 m2 at screening

Timeline

Screening 3 weeks

Treatment Varies

Follow Up minimum 2 years, until 24 months from randomization of last subject

Summary

This trial tests ManNAc, a sugar molecule, in patients with GNE myopathy, a rare muscle disease. The goal is to see if ManNAc can help produce more Neu5Ac, improving muscle strength and slowing down muscle weakening. ManNAc has been previously tested for safety in subjects with GNE myopathy.

Who is the study for?

This trial is for adults aged 18-70 with GNE myopathy, a muscle-weakening disease. Participants must have certain levels of muscle strength and be able to travel to the study site without assistance. Women who can get pregnant and men should use birth control during the trial. People with recent severe illness, other conditions affecting physical function, or those on certain medications recently cannot join.

What is being tested?

The study tests ManNAc, a drug in development for treating GNE myopathy against a placebo (a substance with no therapeutic effect). It's randomized and double-blind, meaning neither participants nor researchers know who gets the real drug versus placebo. The goal is to see if ManNAc improves muscle function safely over time.

What are the potential side effects?

Potential side effects are not detailed here but may include reactions related to hypersensitivity to ManNAc or its components like erythritol. Since it's under investigation, part of this study's purpose is also to monitor any adverse effects that could arise from taking ManNAc.

Eligibility Criteria

Inclusion Criteria

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

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My muscle strength in one of the specified areas falls within 10-66% of the expected level.

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I have GNE myopathy confirmed by genetic testing.

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I am between 18 and 70 years old.

Exclusion Criteria

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

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I have ongoing diarrhea or issues absorbing food that could affect my medication intake.

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My kidney function is reduced, with a GFR under 60 mL/min.

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I do not have a mental health or neurological condition that would prevent me from following the study's requirements.

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I have not been hospitalized or needed IV antibiotics in the last 30 days.

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I have a serious health condition that needs urgent surgery or affects my heart, lungs, liver, kidneys, blood, metabolism, or digestive system.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ minimum 2 years, until 24 months from randomization of last subject

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~minimum 2 years, until 24 months from randomization of last subject

This trial's timeline: 3 weeks for screening, Varies for treatment, and minimum 2 years, until 24 months from randomization of last subject for reporting.

Treatment Details

Study Objectives

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

Primary study objectives

Muscle strength of ankle dorsiflexion, knee flexion, knee extension, shoulder abduction, elbow flexion and grip measured by fixed-frame Quantitative Muscle Assessment (QMA)

Secondary study objectives

Inclusion Body Myositis Functional Rating Scale (IBMFRS)

Other study objectives

Activities-specific Balance Confidence (ABC) scale

Adult Myopathy Assessment Tool

Adverse Events

+7 more

Trial Design

2Treatment groups

Active Control

Placebo Group

Group I: ManNAcActive Control1 Intervention

Oral ManNAc will be administered at a dose of 4 grams three times daily (total of 12 grams daily).

Group II: PlaceboPlacebo Group1 Intervention

Oral Placebo will be administered three times daily.

0 / 8Eligibility 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

N-Acetylmannosamine (ManNAc) is a treatment under investigation for GNE Myopathy, a genetic muscle disease characterized by progressive muscle atrophy and weakness. ManNAc acts as a precursor in the biosynthesis of N-acetylneuraminic acid (Neu5Ac), a crucial component in glycan sialylation. This process is essential because mutations in the gene responsible for Neu5Ac biosynthesis lead to the muscle degeneration seen in GNE Myopathy. By supplementing with ManNAc, the aim is to restore normal Neu5Ac levels, thereby improving muscle function and slowing disease progression. This approach is significant for patients as it targets the underlying biochemical defect, offering a potential disease-modifying therapy.

Abnormal Calcium Handling in Duchenne Muscular Dystrophy: Mechanisms and Potential Therapies.Nitric Oxide (NO) and Duchenne Muscular Dystrophy: NO Way to Go?Galectin-3 and N-acetylglucosamine promote myogenesis and improve skeletal muscle function in the mdx model of Duchenne muscular dystrophy.