AVTX-801 for Congenital Disorder of Glycosylation

Overseen By Mary Freeman, MS, CGC

Age: Any Age

Sex: Any

Trial Phase: Phase 2

Sponsor: Eva Morava-Kozicz

Must not be taking: Investigational compounds

Disqualifiers: Aldolase-B deficiency, Galactosemia, Pregnancy, others

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: Unknown

Duration: 54 weeks

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests a new treatment called AVTX-801 for individuals with a rare genetic condition known as SLC35A2-CDG. The goal is to determine if the treatment reduces symptoms such as seizures, chronic vomiting, and digestive issues. Participants will receive both the treatment and a placebo (a substance with no active drug) at different times to compare effects. This trial suits those with a confirmed SLC35A2 genetic variant who experience symptoms affecting daily life, like frequent seizures or chronic digestive problems. Participants need a recent eye exam and, if unable to consent, a parent or guardian must provide consent. As a Phase 2 trial, researchers focus on measuring the treatment's effectiveness in an initial, smaller group of people.

Do I need to stop taking my current medications to join the trial?

The trial information does not specify whether you need to stop taking your current medications. However, if you are on a ketogenic diet or using investigational compounds, you may not be eligible to participate.

Is there any evidence suggesting that AVTX-801 is likely to be safe for humans?

Research has shown that AVTX-801, a treatment for certain genetic disorders, is generally well-tolerated. In an earlier study, healthy volunteers who took AVTX-801 experienced no serious side effects, suggesting it is relatively safe for humans. AVTX-801, a form of D-galactose (a type of sugar), has been tested for similar conditions with good safety results. While these findings are encouraging, ongoing studies continue to assess its safety in people with specific genetic disorders. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising?

Unlike the standard treatments for Congenital Disorder of Glycosylation, which often involve dietary supplements and supportive care, AVTX-801 offers a new approach by targeting the underlying glycosylation process. Researchers are excited about AVTX-801 because it acts on a specific pathway to improve glycosylation, potentially addressing the root cause of the disorder rather than just managing symptoms. This novel mechanism could lead to more effective and lasting improvements in patient health.

What evidence suggests that AVTX-801 might be an effective treatment for SLC35A2-CDG?

Research shows that AVTX-801, a type of D-galactose supplement, might help treat SLC35A2-CDG, a rare genetic disorder. Studies suggest that D-galactose can improve symptoms by enhancing the body's ability to process sugars. In patients with similar conditions, D-galactose has eased symptoms. Although specific data for SLC35A2-CDG is limited, the treatment's mechanism suggests potential benefits. Participants in this trial will receive AVTX-801 during one treatment period and a placebo during another, with each period lasting 24 weeks and a 6-week washout period in between. This treatment has received special recognition for its potential in treating rare childhood diseases, highlighting its promise. ^{1 2 3 4 6}

Who Is on the Research Team?

Eva Morava-Kozicz, MD, PhD

Principal Investigator

Icahn School of Medicine at Mount Sinai

Are You a Good Fit for This Trial?

This trial is for individuals with a rare genetic disorder called SLC35A2-CDG. Participants must have a confirmed molecular diagnosis of this condition. The study welcomes minors and adults with developmental disabilities if consent is provided by guardians. It excludes those with galactose intolerance, other specific metabolic conditions, pregnancy, low hemoglobin levels, severe reactions to oral galactose, or current participation in another drug trial.

Inclusion Criteria

I have been diagnosed with SLC35A2-CDG.

A parent or legal guardian must be available and willing to provide consent on behalf of minor subjects or adult subjects who are unable to give informed consent due to developmental disabilities.

Exclusion Criteria

Your hemoglobin level is less than 7 milligrams per deciliter.

Current enrollment in another trial involving investigational compounds

I have been diagnosed with hemolytic uremic syndrome.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive AVTX-801 or placebo for 24 weeks, followed by a 6-week washout period, then crossover to the alternate treatment for another 24 weeks

54 weeks

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• AVTX-801
• Placebo

Trial Overview The study tests the effectiveness and safety of AVTX-801 (CERC-801), which is D-galactose supplementation compared to a placebo in patients with SLC35A2-CDG. This multicenter trial involves an initial open-label phase where all participants receive AVTX-801 followed by a withdrawal period to assess changes when the supplement is stopped.

How Is the Trial Designed?

Group I: AVTX-801, then Placebo Experimental Treatment 2 Interventions

Each treatment period is 24 weeks, with 6-week washout period in between.

Group II: Placebo, then AVTX-801 Placebo Group 2 Interventions

Each treatment period is 24 weeks, with 6-week washout period in between.

Who Is Running the Clinical Trial?

Eva Morava-Kozicz

Lead Sponsor

Trials

4

Recruited

80+

National Institute of Neurological Disorders and Stroke (NINDS)

Collaborator

Trials

1,403

Recruited

655,000+

Rare Diseases Clinical Research Network

Collaborator

Trials

69

Recruited

19,200+

Children's Hospital of Philadelphia

Collaborator

Trials

749

Recruited

11,400,000+

Citations

1. trial.medpath.com trial.medpath.com/clinical-trial/faaca73b82dad323/nct05402384-evaluation-efficacy-safety-d-galactose-slc35a2-cdg

AVTX-801 D-galactose Supplementation in SLC35A2-CDG This is a multicenter, randomized, double-blind, placebo-controlled, cross-over study to evaluate the efficacy and safety of AVTX-801 in subjects...

2. sciencedirect.com sciencedirect.com/science/article/pii/S1096719224004517

Treatment of congenital disorders of glycosylation The present paper aims to provide a detailed overview of these exciting developments and the rising concepts that are used to treat these ultra-rare diseases.

3. clinconnect.io clinconnect.io/trials/NCT05402384

AVTX-801 D-galactose Supplementation in SLC35A2-CDG This is a multicenter, randomized, double-blind, placebo-controlled, cross-over study to evaluate the efficacy and safety of AVTX-801 in subjects with ...

4. ir.avalotx.com ir.avalotx.com/news-events-presentations/press-releases/detail/72/cerecor-announces-positive-phase-i-safety-data-for-cerc-801-in-healthy-volunteers

Cerecor Announces Positive Phase I Safety Data for CERC ... CERC-801 has been granted Orphan Drug Designation and awarded Rare Pediatric Disease Designation by the FDA, granting eligibility for receipt ...

5. trial.medpath.com trial.medpath.com/clinical-trial/953077c6f5450eaa/nct05402332-avtx-801-pgm1-cdg

Evaluating the Efficacy and Safety of D-galactose in PGM1 ... This is a clinical trial to evaluate the efficacy of AVTX-801 (D-galactose) on the clinical manifestations of PGM1-CDG in participants currently taking D- ...

6. malacards.org malacards.org/card/congenital_disorder_of_glycosylation_type_in

Congenital Disorder of Glycosylation, Type in (CDG1N) Congenital disorders of glycosylation (CDGs) are a group of inherited metabolic disorders caused by enzymatic defects in glycoprotein synthesis.