PGM1-CDG - Phosphoglucomutase 1-Related Congenital Disorder of GlycosylationPhase 2AVTX-801NCT05402332
Evaluating the Efficacy and Safety of D-galactose in PGM1-CDG (AVTX-801)
A Phase 2 study testing AVTX-801 in people with PGM1-CDG - Phosphoglucomutase 1-Related Congenital Disorder of Glycosylation, run by Eva Morava-Kozicz at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 60 years
- Conditions the study is for
- PGM1-CDG - Phosphoglucomutase 1-Related Congenital Disorder of Glycosylation
- What is being tested?
- AVTX-801
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 8 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Oct 2026to 2 Mar 2028
- Phase
- Phase 2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 60 years
- All sexes
- No healthy volunteers
- Adult
Who may be able to join
- 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.
Who cannot join
- 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
Show all 16Show fewer
- 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.
- In the site Principal Investigator's opinion, subject is not able or willing to comply with the trial requirements.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official title: A Phase 2b, Multicenter, Randomized, Double-blind, Placebo-Controlled, Crossover, Trial Assessing the Efficacy, Safety, and Tolerability of AVTX-801 in Subjects With Phosphoglucomutase 1 Deficiency Related Congenital Disorders of Glycosylation (PGM1-CDG)
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.
Read the 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.
- Being tested
- AVTX-801, Placebo
- Medical subject headings
- Glycogen Storage Disease XIV
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AVTX-801Drug
Also called D-Galactose
D-Galactose medical grade supplement - 1.5g/kg/day (not to exceed 50 g/day)
PlaceboDrug
placebo equivalent
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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. Receives: Drug: AVTX-801; Drug: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: after each treatment period (treatment periods are 18 weeks)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jun 2022
- Study start1 Oct 2026 (estimated)
- Primary completion2 Mar 2028 (estimated)
- Study completion2 Mar 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PGM1-CDG - Phosphoglucomutase 1-Related Congenital Disorder of GlycosylationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Triple blind
- Who is masked
- Participant, Care provider, Investigator
- Enrolment
- 8 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Eva Morava-Kozicz
- Sponsor type
- University, hospital or other
- Collaborators
- Children's Hospital of Philadelphia
- Responsible party
- Sponsor-investigator, Eva Morava-Kozicz, Icahn School of Medicine at Mount Sinai
- Investigators
- Eva Morava-Kozicz, MD, PhD, Principal investigator, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05402332
- Sponsor's protocol ID
- STUDY-24-00424
- Other IDs
- 20-009499, FCDGC 8402, AVTX-801-PGM1-201
- Acronym
- AVTX-801
- Status last verified
- Mar 2026
- First submitted
- 28 May 2022
- Last updated
- 16 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 2b, Multicenter, Randomized, Double-blind, Placebo-Controlled, Crossover, Trial Assessing the Efficacy, Safety, and Tolerability of AVTX-801 in Subjects With Phosphoglucomutase 1 Deficiency Related Congenital Disorders of Glycosylation (PGM1-CDG)
- ClinicalTrials.gov ID
- NCT05402332
- Acronym / sponsor ID
- AVTX-801 / STUDY-24-00424
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 8 participants (estimated)
- Lead sponsor
- Eva Morava-KoziczUniversity, hospital or other
- Collaborators
- Children's Hospital of Philadelphia
- Study start
- 1 Oct 2026 (estimated)
- Primary completion
- 2 Mar 2028 (estimated)
- Study completion
- 2 Mar 2028 (estimated)
- First posted
- 2 Jun 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Triple blind (participant, care provider, investigator)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| AVTX-801, then Placebo | Experimental | Drug: AVTX-801, Drug: PlaceboParticipants receive AVTX-801 1.5g/kg/day (in applesauce) during Treatment Period 1 and then placebo (in applesauce) during Treatment Period 2. |
| Placebo, then AVTX-801 | Experimental | Drug: AVTX-801, Drug: PlaceboParticipants receive placebo (in applesauce) during Treatment Period 1 and then AVTX-801 1.5g/kg/day (in applesauce) during Treatment Period 2. |
Who may qualify
- Ages
- 18 to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (16 listed)
- 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:
- Subject has any of the following:
- Use of investigational compounds within the previous 6 months or current enrollment in another trial involving investigational compounds.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| AVTX-801Also: D-GalactoseD-Galactose medical grade supplement - 1.5g/kg/day (not to exceed 50 g/day) | Drug | AVTX-801, then Placebo, Placebo, then AVTX-801 |
| Placeboplacebo equivalent | Drug | AVTX-801, then Placebo, Placebo, then AVTX-801 |
Primary outcome
Proportion of participants with at least one PGM1-CDG related event
Time frame: after each treatment period (treatment periods are 18 weeks)
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Mar 2026.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Eva Morava-Kozicz, MD, PhD principal investigator
Icahn School of Medicine at Mount Sinai
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing AVTX-801 in people with PGM1-CDG - Phosphoglucomutase 1-Related Congenital Disorder of Glycosylation, run by Eva Morava-Kozicz at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 16 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 16 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Mary Freeman, MS, CGC (212-659-1434, mary.freeman@mssm.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Proportion of participants with at least one PGM1-CDG related event (time frame: after each treatment period (treatment periods are 18 weeks)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Mar 2026; AzTrials last refreshed its copy on 7 Nov 2026.