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Research Studies

Research Studies

Study Identifier Study Name Disorders / CDG Type(s) Therapeutic approach Eligibility Study Type Industry / Institution(s) Region Location Contact Persons Direct Link
Characterization of the CDG-SRD5A3 Clinical Spectrum SRD5A3-CDG NA Literature review, phone interviews, review of patient medical information, CGI scale development UT South Western Medical Center Children's Health

Dallas, TX
United States

Kimberly Goodspeed
Kimberly.Goodspeed@utsouthwestern.edu
SRD5A3-CDG Gene Therapy SRD5A3-CDG Gene therapy Laboratory research - gene therapy in cerebellum specific SRD5A3 knockout mouse model UT South Western

Dallas, TX
United States

Steven Grey
Steven.Gray@utsouthwestern.edu
SRD5A3-CDG Drug Repurposing SRD5A3-CDG Drug repurposing Laboratory research - drug screen in SRD5A3 knockout worms for drug repurposing Modelis

Montreal
Canada

James Doyle
james.doyle@modelis.ca
SRD5A3-CDG Cell-Based Assay and Biomarker SRD5A3-CDG NA Laboratory research- functional assay and biomarker for SRD5A3-CDG in human cells Rarebase

Palo Alto, CA
United States

Omid Karkouti
omid@rarebase.org
Immunology CDG Questionnaire (ImmunoCDGQ) CDG NA Observational (web survey to collect information about immunological affectation in CDG patients) The Portuguese Association for CDG, CDG & Allies-PPAIN Worldwide Rita Francisco
rab.francisco@campus.fct.unl.pt
CDG Symptom Prioritization Questionnaire – (CDGSPQ) CDG NA Observational (web survey to collect information about immunological affectation in CDG patients) The Portuguese Association for CDG, CDG & Allies-PPAIN Worldwide Catia Neves
cj.neves@fct.unl.pt
CDG jouney mapping from information to definitive diagnosis- needs, experiences and perspectives CDG NA Observational (web survey to collect information about immunological affectation in CDG patients) The Portuguese Association for CDG, CDG & Allies-PPAIN Worldwide Vanessa Ferreira
vmr.ferreira@fct.unl.pt

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