SLC35A2-CDG - Solute Carrier Family 35 Member A2 Congenital Disorder of GlycosylationPhase 2NCT05402384
AVTX-801 D-galactose Supplementation in SLC35A2-CDG
A Phase 2 study testing AVTX-801 in people with SLC35A2-CDG - Solute Carrier Family 35 Member A2 Congenital Disorder of Glycosylation, run by Eva Morava-Kozicz at 1 site in United States.
Trial 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 Read more about this study
- Who is it for?
- Ages 1 month and older
- Conditions the study is for
- SLC35A2-CDG - Solute Carrier Family 35 Member A2 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
- 10 participants
- Where
- 1 siteUnited States
- Study dates
- Jan 2027to 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 1 month and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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)
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- 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
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: Evaluation of Efficacy and Safety of D-galactose Supplementation in SLC35A2-CDG, a Disorder of Hypogalactosylation
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
- Being tested
- AVTX-801, Placebo
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
Medical grade D-galactose
dosage:2.0 g/kg/day
PlaceboDrug
Matching placebo
| Study group | Role | What they receive |
|---|---|---|
| AVTX-801, then Placebo | Experimental | Each treatment period is 24 weeks, with 6-week washout period in between. Receives: Drug: AVTX-801; Drug: Placebo |
| Placebo, then AVTX-801 | Placebo comparator | Each treatment period is 24 weeks, with 6-week washout period in between. Receives: Drug: AVTX-801; Drug: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of major motor seizure frequency
Seizure burden assessed by change from baseline in 28-day major motor seizure frequency
Measured: 28 days
Number of vomiting episodes
Vomiting frequency in 28-day from baseline
Measured: 28 days
Bristol Stool Form Scale (BSFS)
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.
Measured: average daily 28 days
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 startJan 2027 (estimated)
- Primary completionMar 2028 (estimated)
- Study completionMar 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for SLC35A2-CDG - Solute Carrier Family 35 Member A2 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
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Eva Morava-Kozicz
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), Rare Diseases Clinical Research Network, 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
- NCT05402384
- Sponsor's protocol ID
- 19-005271
- Other IDs
- U54NS115198
- Status last verified
- Jun 2026
- First submitted
- 28 May 2022
- Last updated
- 29 Jun 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 29 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Efficacy and Safety of D-galactose Supplementation in SLC35A2-CDG, a Disorder of Hypogalactosylation
- ClinicalTrials.gov ID
- NCT05402384
- Acronym / sponsor ID
- 19-005271
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- Eva Morava-KoziczUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), Rare Diseases Clinical Research Network, Children's Hospital of Philadelphia
- Study start
- Jan 2027 (estimated)
- Primary completion
- Mar 2028 (estimated)
- Study completion
- 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 multicenter, randomized, double-blind, placebo-controlled, cross-over study to evaluate the efficacy and safety of AVTX-801 in subjects with SLC35A2-CDG
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: PlaceboEach treatment period is 24 weeks, with 6-week washout period in between. |
| Placebo, then AVTX-801 | Placebo comparator | Drug: AVTX-801, Drug: PlaceboEach treatment period is 24 weeks, with 6-week washout period in between. |
Who may qualify
- Ages
- 1 month and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (12 listed)
- Aldolase-B deficiency
- Galactosemia
- Hemolytic uremic syndrome
- Hemoglobin < 7 mg/dL
- LFTs > 3x ULN
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-GalactoseMedical grade D-galactose dosage:2.0 g/kg/day | Drug | AVTX-801, then Placebo, Placebo, then AVTX-801 |
| PlaceboMatching placebo | Drug | AVTX-801, then Placebo, Placebo, then AVTX-801 |
Primary outcome
Number of major motor seizure frequency
Time frame: 28 days
Seizure burden assessed by change from baseline in 28-day major motor seizure frequency
Number of vomiting episodes
Time frame: 28 days
Vomiting frequency in 28-day from baseline
Bristol Stool Form Scale (BSFS)
Time frame: 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.
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 29 Jun 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 SLC35A2-CDG - Solute Carrier Family 35 Member A2 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 6 inclusion and 12 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 29 Jun 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. Some participants in this study may receive a placebo. 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?
Number of major motor seizure frequency (time frame: 28 days). The study lists 3 primary outcomes in all. 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 29 Jun 2026.