AVTX-801 D-galactose Supplementation in SLC35A2-CDG

NCT05402384 | Not Yet Recruiting Phase 2 FDA Drug

• 2 other identifiers: 19-005271U54NS115198
• Study Type: interventional
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

SLC35A2-CDG - Solute Carrier Family 35 Member A2 Congenital Disorder of Glycosylation

Outcome Measures

Primary Outcomes (3)

• Number of major motor seizure frequency

  Seizure burden assessed by change from baseline in 28-day major motor seizure frequency

  28 days

• Number of vomiting episodes

  Vomiting frequency in 28-day from baseline

  28 days

• Bristol Stool Form Scale (BSFS)

  Constipation/diarrhea assessed by scale improvement toward normal stool forms from baseline in average daily 28-day Bristol Stool form scale. The BSFS classifies stool into 7 groups, type 1 (hardest) to type 7 (softest). Type 3 and Type 4 would be more indicative of normal stool.

  average daily 28 days

Study Arms (2)

AVTX-801, then Placebo

EXPERIMENTAL

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

Drug: AVTX-801; Drug: Placebo

Placebo, then AVTX-801

PLACEBO COMPARATOR

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

Drug: AVTX-801; Drug: Placebo

Interventions

AVTX-801 DRUG

Medical grade D-galactose dosage:2.0 g/kg/day

Also known as: D-Galactose

AVTX-801, then Placebo; Placebo, then AVTX-801

Placebo DRUG

Matching placebo

AVTX-801, then Placebo; Placebo, then AVTX-801

Eligibility Criteria

• Age: 1 Month+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Molecular confirmation of SLC35A2 genetic variant
• Age \> 1 month
• Presence of seizures, chronic vomiting, chronic constipation, or chronic diarrhea
• 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.
• Use of contraception in females \> age 8 years
• Previously performed eye exam within last year

You may not qualify if:

• Aldolase-B deficiency
• Galactosemia
• Hemolytic uremic syndrome
• Hemoglobin \< 7 mg/dL
• LFTs \> 3x ULN
• Previously experienced severe AEs from oral galactose (severe diarrhea, vomiting, constipation, galactosuria, or increased liver glycogen storage)
• Other history of galactose intolerance as determined by the investigator
• Currently treated with ketogenic diet
• Current enrollment in another trial involving investigational compounds
• Ongoing dietary D-galactose supplementation
• Use of investigational compounds
• Pregnancy

Sponsors & Collaborators

• Eva Morava-Kozicz: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• Rare Diseases Clinical Research Network: collaborator
• Children's Hospital of Philadelphia: collaborator

Study Sites (1)

Mayo Clinic Minnesota

Rochester, Minnesota, 55905, United States

Location

MeSH Terms

Interventions

Galactose

Intervention Hierarchy (Ancestors)

Hexoses; Monosaccharides; Sugars; Carbohydrates

Study Officials

• Eva Morava-Kozicz, MD, PhD

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Mary Freeman, MS, CGC

CONTACT

212-659-1434; mary.freeman@mssm.edu

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: TRIPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: May 28, 2022
• First Posted: June 2, 2022
• Study Start (Estimated): January 1, 2027
• Primary Completion (Estimated): March 1, 2028
• Study Completion (Estimated): March 1, 2028
• Last Updated: June 29, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)