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

10 Participants Needed

Trial Summary

What is the purpose of this trial?

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

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.

What evidence supports the effectiveness of the drug AVTX-801 for treating congenital disorders of glycosylation?

Research on a similar condition, PGM1-CDG, showed that oral D-galactose supplementation improved symptoms and was safe for patients. This suggests that treatments targeting glycosylation pathways, like AVTX-801, might also be effective for other congenital disorders of glycosylation. ^{1 2 3 4 5}

How does the drug AVTX-801 differ from other treatments for congenital disorders of glycosylation?

AVTX-801 is unique because it targets a specific pathway involved in glycosylation, which is the process of adding sugar molecules to proteins and lipids. This drug may offer a novel approach to managing congenital disorders of glycosylation, which currently have limited treatment options. ^{1 2 3 5 6}

Research Team

Eva Morava-Kozicz, MD, PhD

Principal Investigator

Icahn School of Medicine at Mount Sinai

Eligibility Criteria

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

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

Treatment Details

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.

Participant Groups

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+

References

1. United States pubmed.ncbi.nlm.nih.gov

ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines. [2023]

2. United States pubmed.ncbi.nlm.nih.gov

Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. [2022]

3. United States pubmed.ncbi.nlm.nih.gov

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. [2012]

4. United States pubmed.ncbi.nlm.nih.gov

Oral D-galactose supplementation in PGM1-CDG. [2022]

5. China pubmed.ncbi.nlm.nih.gov

Congenital disorders of glycosylation. [2020]

6. England pubmed.ncbi.nlm.nih.gov

COG8 deficiency causes new congenital disorder of glycosylation type IIh. [2023]