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

NCT ID: NCT05402332

Last Updated: 2025-09-23

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Clinical Phase: PHASE2
• Total Enrollment: 8 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2026-02-02
• Study Completion Date: 2028-03-02

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.

Detailed Description

Participants who sign consent will be screened for enrollment, and if they meet all eligibility criteria, they will enter a 4-week Run-In period. During the Run-In period, participants will continue to take D-galactose therapy, and will be monitored for hypoglycemic events, to establish a baseline rate. Following completion of the Run-In period participants will complete Baseline Day 1 procedures for treatment period 1 and be randomized in a 1:1 fashion to one of two treatment sequences: 1) AVTX-801 (plus applesauce) 1.5 g/kg/day (not to exceed 50 g/day) (treatment period 1) followed by placebo (plus applesauce ) (treatment period 2) or 2) Placebo (plus applesauce) (treatment period 1) followed by AVTX-801 (plus applesauce) 1.5 g/kg/day (not to exceed 50 g/day) (treatment period 2).

Each treatment period will end upon completion of 18 weeks of treatment or upon occurrence of a PGM1-CDG related event. There will be an open label recovery period of 18 weeks separating the two treatment periods, during which time the subject will receive commercially available D-galactose.

During the double-blind period of the study, participants will be closely monitored for clinical signs and symptoms related to or suspected to be related to withdrawal of D galactose therapy; specifically, recurrent or prolonged hypoglycemia, elevation of ALT and decreases in ATIII.

Upon completion of the double-blind portion of the study (i.e., either completion of both 18-week double-blind periods or occurrence of a PGM1-CDG related event during treatment period 2), participants will be permitted to enter a long-term, open-label, safety follow-up period of 12 months with AVTX-801.

Conditions

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

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: CROSSOVER
• Primary Study Purpose: TREATMENT
• Blinding Strategy: TRIPLE

Study Groups

AVTX-801, then Placebo

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

Group Type: EXPERIMENTAL

AVTX-801

Intervention Type: DRUG

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

Placebo

Intervention Type: DRUG

placebo equivalent

Placebo, then AVTX-801

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

Group Type: EXPERIMENTAL

AVTX-801

Intervention Type: DRUG

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

Placebo

Intervention Type: DRUG

placebo equivalent

Interventions

AVTX-801

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

Intervention Type: DRUG

Placebo

placebo equivalent

Intervention Type: DRUG

Other Intervention Names

D-Galactose

Eligibility Criteria

Inclusion Criteria

1. Subject is aged 18 to 60 years.

2. Subject has biologically and genetically proven PGM1-CDG.

3. Subject is currently on a stable dose of D-galactose therapy.

4. 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).

5. Subject/legally authorized representative (LAR) is able to understand and provide written informed consent, and assent (as applicable) to participate in this study.

Exclusion Criteria

1. Subject has aldolase B deficiency, galactosemia, hemolytic uremic syndrome, or severe anemia.

2. In the site Principal Investigator's opinion, subject has a history of galactose intolerance that precludes the subject from participation in this study.

3. In the site Principal Investigator's opinion, subject has previously experienced any of the following severe AEs from oral galactose:

1. Severe diarrhea

2. Severe, recurrent vomiting

3. Constipation

4. Galactosuria

5. Increased liver glycogen storage.

4. Subject has any of the following:

1. Liver failure

2. ALT level >8x ULN

3. AST level >8x ULN

5. Use of investigational compounds within the previous 6 months or current enrollment in another trial involving investigational compounds.

6. Subject is pregnant.

7. Subject has hepatic impairment that would require a dose adjustment, defined by the site Principal Investigator.

8. In the site Principal Investigator's opinion, subject is not able or willing to comply with the trial requirements.

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 60 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Children's Hospital of Philadelphia

OTHER

Sponsor Role: collaborator

Eva Morava-Kozicz

OTHER

Sponsor Role: lead

Responsible Party

Eva Morava-Kozicz

Principal Investigator

Responsibility Role: SPONSOR_INVESTIGATOR

Principal Investigators

Eva Morava-Kozicz, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Icahn School of Medicine at Mount Sinai

Locations

Mayo Clinic Rochester

Rochester, Minnesota, United States

Countries

United States

Central Contacts

Mary Freeman, MS, CGC

Role: CONTACT

mary.freeman@mssm.edu

212-659-1434

Other Identifiers

20-009499

Identifier Type: OTHER

Identifier Source: secondary_id

FCDGC 8402

Identifier Type: OTHER

Identifier Source: secondary_id

AVTX-801-PGM1-201

Identifier Type: OTHER

Identifier Source: secondary_id

STUDY-24-00424

Identifier Type: -

Identifier Source: org_study_id