Evaluating the Efficacy and Safety of D-galactose in PGM1-CDG (AVTX-801)

NCT05402332 | Not Yet Recruiting Phase 2 FDA Drug

• 4 other identifiers: STUDY-24-0042420-009499FCDGC 8402AVTX-801-PGM1-201
• Study Type: interventional
• Target: 8
• Locations: 1 country
• Sites: 1

Brief Summary

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-galactose.

Conditions

PGM1-CDG - Phosphoglucomutase 1-Related Congenital Disorder of Glycosylation

Outcome Measures

Primary Outcomes (1)

• Proportion of participants with at least one PGM1-CDG related event

  Proportion of participants in each treatment group who experience at least one PGM1-CDG related event (recurrent or prolonged hypoglycemia, elevation of ALT and/or decrease in ATIII) during each treatment period.

  after each treatment period (treatment periods are 18 weeks)

Study Arms (2)

AVTX-801, then Placebo

EXPERIMENTAL

Participants receive AVTX-801 1.5g/kg/day (in applesauce) during Treatment Period 1 and then placebo (in applesauce) during Treatment Period 2.

Drug: AVTX-801; Drug: Placebo

Placebo, then AVTX-801

EXPERIMENTAL

Participants receive placebo (in applesauce) during Treatment Period 1 and then AVTX-801 1.5g/kg/day (in applesauce) during Treatment Period 2.

Drug: AVTX-801; Drug: Placebo

Interventions

AVTX-801 DRUG

D-Galactose medical grade supplement - 1.5g/kg/day (not to exceed 50 g/day)

Also known as: D-Galactose

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

Placebo DRUG

placebo equivalent

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

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)

You may qualify if:

• Subject is aged 18 to 60 years.
• Subject has biologically and genetically proven PGM1-CDG.
• Subject is currently on a stable dose of D-galactose therapy.
• Non-pregnant, non-lactating female subjects of childbearing potential who are heterosexually active and non-sterile male subjects with female sexual partners of childbearing potential agree to use a highly effective method of contraception for the duration of the study, including the long-term safety follow-up period. A highly effective method of birth control is defined as one that results in a low failure rate (i.e., \<1% per year) when used consistently and correctly, such as oral/injectable/inserted/implanted/transdermal contraceptives, condom with diaphragm, condom with spermicide, diaphragm with spermicide, intrauterine hormone- releasing system, or intrauterine device (IUD), or sexual abstinence. Contraception is not required where at least 6 weeks have passed since sterilization, defined as females having undergone one of the following surgeries: hysterectomy, bilateral tubal ligation or occlusion, bilateral oophorectomy, or bilateral salpingectomy; and males who are vasectomized. Contraception is not required where females are postmenopausal (defined as 12 consecutive months of spontaneous amenorrhea and age ≥51 years).
• Subject/legally authorized representative (LAR) is able to understand and provide written informed consent, and assent (as applicable) to participate in this study.

You may not qualify if:

• Subject has aldolase B deficiency, galactosemia, hemolytic uremic syndrome, or severe anemia.
• In the site Principal Investigator's opinion, subject has a history of galactose intolerance that precludes the subject from participation in this study.
• In the site Principal Investigator's opinion, subject has previously experienced any of the following severe AEs from oral galactose:
• Severe diarrhea
• Severe, recurrent vomiting
• Constipation
• Galactosuria
• Increased liver glycogen storage.
• Subject has any of the following:
• Liver failure
• ALT level \>8x ULN
• AST level \>8x ULN
• Use of investigational compounds within the previous 6 months or current enrollment in another trial involving investigational compounds.
• Subject is pregnant.
• Subject has hepatic impairment that would require a dose adjustment, defined by the site Principal Investigator.

Sponsors & Collaborators

• Eva Morava-Kozicz: lead
• Children's Hospital of Philadelphia: collaborator

Study Sites (1)

Mayo Clinic Rochester

Rochester, Minnesota, 55905, United States

Location

MeSH Terms

Conditions

Glycogen Storage Disease XIV

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): October 1, 2026
• Primary Completion (Estimated): March 2, 2028
• Study Completion (Estimated): March 2, 2028
• Last Updated: March 16, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)