SRD5A3-CDG Cell-Based Assay and Biomarker


Status: Research Study
Disorders / CDG Type(s): SRD5A3-CDG
Therapeutic approach:
NA
Study Type: Laboratory research- functional assay and biomarker for SRD5A3-CDG in human cells
Industry / Institution(s):
Rarebase
Locations:
CA United States
Contacts:
Omid Karkouti
omid@rarebase.org

SRD5A3-CDG Drug Repurposing


Status: Research Study
Disorders / CDG Type(s): SRD5A3-CDG
Therapeutic approach:
Drug repurposing
Study Type: Laboratory research - drug screen in SRD5A3 knockout worms for drug repurposing
Industry / Institution(s):
Modelis
Locations:
Canada
Contacts:
James Doyle
james.doyle@modelis.ca

SRD5A3-CDG Gene Therapy


Status: Research Study
Disorders / CDG Type(s): SRD5A3-CDG
Therapeutic approach:
Gene therapy
Study Type: Laboratory research - gene therapy in cerebellum specific SRD5A3 knockout mouse model
Industry / Institution(s):
UT South Western
Locations:
TX United States
Contacts:
Steven Grey
Steven.Gray@utsouthwestern.edu

Characterization of the CDG-SRD5A3 Clinical Spectrum


Status: Research Study
Disorders / CDG Type(s): SRD5A3-CDG
Therapeutic approach:
NA
Study Type: Literature review, phone interviews, review of patient medical information, CGI scale development
Industry / Institution(s):
UT South Western Medical Center Children's Health
Locations:
TX United States
Contacts:
Kimberly Goodspeed
Kimberly.Goodspeed@utsouthwestern.edu

A Multicenter, Open-Label, Withdrawal and Treatment Trial Assessing the Efficacy, Safety, and Tolerability of 2 Doses of CERC-801 in Subjects with Phosphoglucomutase-1 Deficiency Related Congenital Disorders of Glycosylation (PGM1-CDG)


Status: Upcoming Trial
Disorders / CDG Type(s): PGM1-CDG
Therapeutic approach:
Drug: CERC-801 D-galactose supplement; Administration: Oral
Eligibility: Diagnosis of PGM1-CDG
Study Type: Interventional Phase 2
Industry / Institution(s):
Mayo Clinic/CHOP
Locations:
United States
Contacts:
Eva Morava-Kozicz, MD, PhD
Dr. Andrew Edmondson, MD, PhD

http://clinicaltrials.gov


Page modified at Friday, February 11, 2022 - 13:48