AVTX-801 D-galactose Supplementation in SLC35A2-CDG

Evaluation of Efficacy and Safety of D-galactose Supplementation in SLC35A2-CDG, a Disorder of Hypogalactosylation

Status

Not yet recruiting

Phases

Phase 2

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT05402384

Enrollment

Registered

2022-06-02

Start date

2027-01-01

Completion date

2028-03-01

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

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

Interventions

DRUGAVTX-801

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

DRUGPlacebo

Matching placebo

Study design

Allocation

RANDOMIZED

Intervention model

CROSSOVER

Primary purpose

TREATMENT

Masking

TRIPLE (Subject, Caregiver, Investigator)

Eligibility

Sex/Gender

ALL

Age

1 Months to No maximum

Healthy volunteers

Inclusion criteria

* 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

Exclusion criteria

* 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

Design outcomes

Primary

Measure	Time frame	Description
Number of major motor seizure frequency	28 days	Seizure burden assessed by change from baseline in 28-day major motor seizure frequency
Number of vomiting episodes	28 days	Vomiting frequency in 28-day from baseline
Bristol Stool Form Scale (BSFS)	average daily 28 days	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.

Countries

United States

Contacts

CONTACTMary Freeman, MS, CGC

mary.freeman@mssm.edu212-659-1434

PRINCIPAL_INVESTIGATOREva Morava-Kozicz, MD, PhD

Icahn School of Medicine at Mount Sinai

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Jun 30, 2026