AVTX-801 D-galactose Supplementation in SLC35A2-CDG

Launched by EVA MORAVA-KOZICZ · May 28, 2022

Keywords

ClinConnect Summary

This clinical trial is studying a treatment called AVTX-801 for individuals with a rare genetic condition known as SLC35A2-CDG, which can cause various health issues like seizures and digestive problems. The trial will involve several centers and is designed to see if AVTX-801 is safe and effective compared to a placebo, which is a substance with no active medication. It will include participants aged 1 month and older, regardless of gender, who have a confirmed SLC35A2 genetic variant and experience certain symptoms like seizures or digestive issues.

To participate in this trial, individuals must meet specific criteria, such as having the genetic variant confirmed by testing, being over 1 month old, and having a parent or guardian who can provide consent if needed. Participants can expect to be randomly assigned to receive either the treatment or a placebo, and they will be closely monitored for any side effects or benefits during the study. It's important to note that individuals with certain conditions, such as galactosemia or those currently on a ketogenic diet, will not be eligible to participate. The trial is not yet recruiting participants, so more information will be available as it progresses.

Gender

ALL

Eligibility criteria

• • 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