Acetazolamide for Ataxia in PMM2-CDG


Status: Active, Recruiting
Study Identifier: NCT04679389
Disorders / CDG Type(s): PMM2-CDG
Therapeutic approach:
Drug: Acetazolamide/Placebo;
Administration: Oral
Eligibility: Ages 4 years and up, diagnosis of PMM2-CDG
Study Type: Interventional Phase 2
Industry / Institution(s):
Seattle Children's Hospital
Mayo Clinic
CHOP
Locations:
United States
Contacts:
Christina Lam, MD
Irene Chang, MD
Eva Morava-Kozicz, MD
Tamas Kozicz, MD
Andrew Edmondson, MD

https://clinicaltrials.gov/ct2/show/NCT04679389?term=PMM2-CDG&draw=2&rank=2

Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism


Status: Active, Not Recruiting
Study Identifier: NCT04201067
Disorders / CDG Type(s): ALG13-CDG, PGM1-CDG, SLC35A2-CDG
Therapeutic approach:
None
Eligibility: CDG patients all ages that have agreed to share samples/data
Study Type: Observational and retrospective
Industry / Institution(s):
Mayo Clinic
Locations:
MN United States
Contacts:
Eva Morava-Kozicz, MD, PhD
+1 507-266-2967
morava-kozicz.eva@mayo.edu

https://www.clinicaltrials.gov/ct2/results?cond=&term=NCT04201067&cntry=&state=…

Clinical and Basic Investigations Into Congenital Disorders of Glycosylation


Status: Active, Recruiting
Study Identifier: NCT04199000
Disorders / CDG Type(s): All CDGs
Therapeutic approach:
None
Eligibility: Patients diagnosed with CDG based on genetic confirmatory testing
Study Type: Observational
Industry / Institution(s):
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
Locations:
United States
Contacts:
Eva Morava-Kozicz, PhD, MD
507-266-2967
morava-kozicz.eva@mayo.edu

Kaitlin Schwartz, B.S.
507-293-9114
schwartz.kaitlin@mayo.edu

https://www.clinicaltrials.gov/ct2/show/NCT04199000?term=NCT04199000&draw=2&ran…

Role of simple sugars as dietary supplement in CDG patients


Status: Active, Recruiting
Study Identifier: NCT04198987
Disorders / CDG Type(s): All CDGs
Therapeutic approach:
None
Eligibility: Biochemical and genetic prove of CDG and receiving (or planning to receive) oral simple sugar supplementation
Study Type: Observational
Industry / Institution(s):
Mayo Clinic in Rochester
Locations:
MN United States
Contacts:
Eva Morava-Kozicz, MD, PhD
507-266-2967
morava-kozicz.eva@mayo.edu
Suzy Boyer, RDN, LD
507-266-2967
boyer.suzanne@mayo.edu

https://www.clinicaltrials.gov/ct2/show/NCT04198987?term=NCT04198987&draw=2&ran…

Study of Hemostasis in Patients With Congenital Disorder of Glycosylation (CDG-Coag)


Status: Completed
Study Identifier: NCT03560570
Disorders / CDG Type(s): All CDGs
Therapeutic approach:
None
Eligibility: CDG patients all ages
Study Type: Interventional Biological: Coagulation assay
Industry / Institution(s):
Hôpital Necker Enfants malades
Locations:
Paris France
Contacts:
Delphine Borgel, PharmaD, PhD

https://www.clinicaltrials.gov/ct2/show/NCT03560570?term=NCT03560570&draw=2&ran…

Study of ORL-1M (D-mannose) in Patients With CDG-Ib


Status: Active, Recruiting
Study Identifier: NCT03404869
Disorders / CDG Type(s): MPI-CDG
Therapeutic approach:
Drug: ORL-1M - D-mannose
Administration: Oral
Eligibility: MPI-CDG patients up to 18 years (Child, Adult)
Study Type: Phase 1/ Phase 2
Industry / Institution(s):
Orpha Labs
Locations:
Ankara Turkey
Contacts:
+90 537 763 6241
business.development@orphalabs.com

https://www.clinicaltrials.gov/ct2/show/NCT03404869?term=NCT03404869&draw=2&ran…

Study of ORL-1G (D-galactose) in Patients With Glycogen Storage Disease Type 14


Status: Active, Recruiting
Study Identifier: NCT03404856
Disorders / CDG Type(s): PGM1-CDG
Therapeutic approach:
Drug: ORL-1G - D-galactose
Administration: Oral
Eligibility: PGM1-CDG patients up to 18 years (Child, Adult)
Study Type: Phase 1/ Phase 2
Industry / Institution(s):
Orpha Labs
Locations:
Ankara Turkey
Contacts:
+90 537 763 6241
business.development@orphalabs.com

https://www.clinicaltrials.gov/ct2/show/NCT03404856?term=NCT03404856&draw=2&ran…

Role of the endothelium in stroke-like episode among CDG Patients (PECDG)


Status: Completed
Study Identifier: NCT03250728
Disorders / CDG Type(s): All CDGs
Therapeutic approach:
None
Eligibility: Patients older than 6 years with CDG molecularly diagnosed
Study Type: Interventional Collection of blood by peripheral blood puncture
Industry / Institution(s):
Hopital Necker enfants malades
Locations:
Paris France
Contacts:
Pascale De Lonlay, MD, PhD

https://www.clinicaltrials.gov/ct2/show/NCT03250728?term=NCT03250728&draw=2&ran…

Natural history study protocol in PMM2-CDG (CDG-Ia)


Status: Active, Recruiting
Study Identifier: NCT03173300
Disorders / CDG Type(s): PMM2-CDG
Eligibility: Patients with PMM2-CDG, all ages with confirmed (enzymatic or molecular) diagnosis
Study Type: Observational
Industry / Institution(s):
Glycomine
Locations:
Europe
United States
Contacts:
Horacio Plotkin, MD, Chief Medical Officer
+1 (781) 290-3722
hplotkin@glycomine.com

More Details Here

Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation


Status: Completed
Study Identifier: NCT02955264
Disorders / CDG Type(s): All CDGs, PGM1-CDG
Therapeutic approach:
Dietary Supplement: D-Galactose
Eligibility: Children and adults up to 21 years with biochemically and genetically proven CDG
Study Type: Phase 2
Industry / Institution(s):
Tulane University
Locations:
United States
Contacts:
Eva Morava-Kozicz, PhD, MD
507-266-2967
morava-kozicz.eva@mayo.edu

https://www.clinicaltrials.gov/ct2/show/NCT02955264?term=NCT02955264&draw=2&ran…


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