Evaluation of Efficacy and Safety of D-galactose Supplementation in SLC35A2-CDG, a Disorder of Hypogalactosylation
Eva Morava-Kozicz
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
Eligibility
- Age range
- 0+ years
- Sex
- All
- Healthy volunteers
- No
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 *…
Interventions
- DrugAVTX-801
Medical grade D-galactose dosage:2.0 g/kg/day
- DrugPlacebo
Matching placebo
Location
- Mayo Clinic MinnesotaRochester, Minnesota