AVTX-801 D-galactose Supplementation in SLC35A2-CDG

NCT ID: NCT05402384

Last Updated: 2025-06-29

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Clinical Phase

PHASE2

Total Enrollment

10 participants

Study Classification

INTERVENTIONAL

Study Start Date

2027-01-31

Study Completion Date

2028-03-31

Brief Summary

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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

Detailed Description

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Conditions

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

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

CROSSOVER

Primary Study Purpose

TREATMENT

Blinding Strategy

TRIPLE

Participants Caregivers Investigators

Study Groups

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AVTX-801, then Placebo

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

Group Type EXPERIMENTAL

AVTX-801

Intervention Type DRUG

Medical grade D-galactose

dosage:2.0 g/kg/day

Placebo

Intervention Type DRUG

Matching placebo

Placebo, then AVTX-801

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

Group Type PLACEBO_COMPARATOR

AVTX-801

Intervention Type DRUG

Medical grade D-galactose

dosage:2.0 g/kg/day

Placebo

Intervention Type DRUG

Matching placebo

Interventions

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AVTX-801

Medical grade D-galactose

dosage:2.0 g/kg/day

Intervention Type DRUG

Placebo

Matching placebo

Intervention Type DRUG

Other Intervention Names

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D-Galactose

Eligibility Criteria

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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
Minimum Eligible Age

1 Month

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role collaborator

Rare Diseases Clinical Research Network

NETWORK

Sponsor Role collaborator

Children's Hospital of Philadelphia

OTHER

Sponsor Role collaborator

Eva Morava-Kozicz

OTHER

Sponsor Role lead

Responsible Party

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Eva Morava-Kozicz

Principal Investigator

Responsibility Role SPONSOR_INVESTIGATOR

Principal Investigators

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Eva Morava-Kozicz, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Icahn School of Medicine at Mount Sinai

Locations

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Mayo Clinic Minnesota

Rochester, Minnesota, United States

Site Status

Countries

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United States

Central Contacts

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Mary Freeman, MS, CGC

Role: CONTACT

212-659-1434

Other Identifiers

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U54NS115198

Identifier Type: NIH

Identifier Source: secondary_id

View Link

19-005271

Identifier Type: -

Identifier Source: org_study_id

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