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Active, Recruiting

Active and Recruiting Clinical Trials

Study Identifier Study Name Disorders / CDG Type(s) Therapeutic approach Eligibility Study Type Industry / Institution(s) Region Location Contact Persons Direct Link
NCT01417533 A natural history study of patients with GNE Myopathy and GNE-related diseases GNE Myopathy None Individuals between 18-80 years who have GNE Myopathy and do not use a wheelchair Observational National Institutes of Health Clinical Center

MD
United States

Yan Kang
+1(240) 383-2454
yan.kang2@nih.gov

William A Gahl, M.D.
+1(301) 402-2739
gahlw@mail.nih.gov
NCT02089789 Clinical and basic investigations into known and suspected Congenital Disorders of Glycosylation CDG None People age 1-80 with CDG or suspected to have a CDG Observational National Institutes of Health Clinical Center

Maryland, MD
United States

Lynne A Wolfe
C.R.N.P.
+1 (301) 443-8577
lynne.wolfe@nih.gov
NCT03173300 Natural history study protocol in PMM2-CDG (CDG-Ia) PMM2-CDG None Patients with PMM2-CDG, all ages with confirmed (enzymatic or molecular) diagnosis Observational Glycomine Europe

United States

Horacio Plotkin, MD, Chief Medical Officer
+1 (781) 290-3722
hplotkin@glycomine.com
NCT03404856 Study of ORL-1G (D-galactose) in Patients With Glycogen Storage Disease Type 14 PGM1-CDG Drug: ORL-1G - D-galactose
Administration: Oral
PGM1-CDG patients up to 18 years (Child, Adult) Phase 1/ Phase 2 Orpha Labs

Ankara/Ankara
Turkey

+90 537 763 6241
business.development@orphalabs.com
NCT03404869 Study of ORL-1M (D-mannose) in Patients With CDG-Ib MPI-CDG Drug: ORL-1M - D-mannose
Administration: Oral
MPI-CDG patients up to 18 years (Child, Adult) Phase 1/ Phase 2 Orpha Labs

Ankara/Ankara
Turkey

+90 537 763 6241
business.development@orphalabs.com
NCT04198987 Role of simple sugars as dietary supplement in CDG patients CDG None Biochemical and genetic prove of CDG and receiving (or planning to receive) oral simple sugar supplementation
Observational Mayo Clinic in Rochester

Rochester, MN
United States

Eva Morava-Kozicz, MD, PhD
507-266-2967
morava-kozicz.eva@mayo.edu
Suzy Boyer, RDN, LD
507-266-2967
boyer.suzanne@mayo.edu
NCT04199000 Clinical and Basic Investigations Into Congenital Disorders of Glycosylation CDG None Patients diagnosed with CDG based on genetic confirmatory testing Observational Mayo Clinic in Rochester, Children's Hospital of Colorado, Tulane University Medical School, Boston Children's Hospital, University of Minnesota, Children's Hospital of Philadelphia, University of Pittsburgh, Baylor College of Medicine, Seattle Children's Hospital

United States

Eva Morava-Kozicz, PhD, MD
507-266-2967
morava-kozicz.eva@mayo.edu

Kaitlin Schwartz, B.S.
507-293-9114
schwartz.kaitlin@mayo.edu
NCT04679389 Acetazolamide for Ataxia in PMM2-CDG PMM2-CDG Drug: Acetazolamide/Placebo;
Administration: Oral
Ages 4 years and up, diagnosis of PMM2-CDG Interventional Phase 2 Seattle Children's Hospital, Mayo Clinic , CHOP

United States

Christina Lam, MD
Irene Chang, MD
Eva Morava-Kozicz, MD
Tamas Kozicz, MD
Andrew Edmondson, MD

Page modified at Monday, April 19, 2021 - 21:36