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Clinical Trials

Study Identifier Study Name Disorders / CDG Type(s) Therapeutic approach Eligibility Study Type Industry / Institution(s) Region Location Contact Persons Direct Link
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
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) PGM1-CDG Drug: CERC-801 D-galactose supplement; Administration: Oral Diagnosis of PGM1-CDG Interventional Phase 2 Mayo Clinic/CHOP

United States

Eva Morava-Kozicz, MD, PhD
Dr. Andrew Edmondson, MD, PhD
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
2017-000810-44 Phase II clinical trial to evaluate the effectiveness and safety of acetazolamide in the treatment of cerebellar syndrome in patients with PMM2-CDG deficiency PMM2-CDG Drug: Acetazolamide
Administration: Oral
PMM2-CDG patients from 5 to 21 years with molecular study confirming PMM2-CDG deficiency Interventional Phase 2 Fundació Sant Joan de Déu

Spain

Dr. Mercedes Serrano
Silvia Martinez
silvia.martinez@sail-biometria.com
NCT00195637 Intravenous immune globulin to treat Hereditary Inclusion Body Myopathy GNE Myopathy Drug: Immune Globulin
Administration: intravenous
18 years to 70 years of age with documented diagnosis Interventional Phase 1 National Institutes of Health Clinical Center

MD
United States

William A Gahl, M.D.
NCT01236898 Pharmacokinetic study on N- acetylneuraminic Acid GNE Myopathy Drug: N-acetylneuraminic acid (anhydride) (NPC-09)
Administration: Oral
Between 20 and 40 years with confirmed mutations in GNE gene Interventional Phase 1 Tohoku University Hospital

Miyagi
Japan

Masashi Aoki
NCT01359319 Safety and pharmacokinetics of Sialic Acid tables in patients With Hereditary Inclusion Body Myopathy (HIBM) GNE Myopathy Drug: Sialic Acid Extended Release (SA-ER) tablets
Administration: Oral
18 years to 70 years of age with documented diagnosis Interventional Phase 1 Ultragenyx Pharmaceutical Inc

United States

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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
NCT01517880 A phase 2 study to evaluate the dose and pharmacodynamic efficacy of Sialic Acid-Extended Release (SA-ER) tablets in patients with GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) GNE Myopathy Drug: Sialic Acid Extended Release (SA-ER)
Administration: Oral
Between 18 and 65 years of age, inclusive with documented diagnosis; able to walk 20 meters independently Interventional Phase 2 Ultragenyx Pharmaceutical Inc

United States

,

Israel

Alan Pestronk, MD
Perry Shieh, MD
Yoseph Caraco, MD
Heather Lau, MD
NCT01634750 Phase I clinical trial of ManNAc in patients with GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) GNE Myopathy Drug: ManNac
Administration: Oral
GNE-CDG patients between 16-80 years with two GNE gene mutations identified Interventional Phase 1 National Institutes of Health Clinical Center

MD
United States

,

Ecuador

Nuria Carrillo, M.D.
NCT01784679 GNE-Myopathy disease monitoring program (GNEM-DMP): a registry and prospective observational natural history study to assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) GNE Myopathy None All ages with documented diagnosis Observational Ultragenyx Pharmaceutical Inc Europe

United States

,

Canada

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NCT01830972 An open label phase 2 extension study of higher dose Sialic Acid (ER Tablets + IR Capsules) in patients with GNE Myopathy GNE Myopathy Drug: Sialic Acid Extended Release (SA-ER)
Sialic Acid Immediate Release (SA-IR)
Administration: Oral
Enrollment in, and successful completion of the UX001-CL201 (NCT01517880) protocol OR (for 10 treatment naïve subjects): 1) have a confirmed diagnosis of GNE Myopathy, 2) aged 18 -65 years of age, inclusive Interventional Phase 2 Ultragenyx Pharmaceutical Inc

United States

,

Israel

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NCT01902940 Natural history in CCFDN and IBM syndromes GNE Myopathy None Patients with all ages with clinical or genetic diagnosis Observational Friedrich-Baur-Institut, Ludwig-Maximilians-University of Munich

Munich
Germany

Maggie C Walter, MD, MA
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
NCT02196909 Clinical, biological and NMR outcome measures study for Hereditary Inclusion Body Myopathy due to mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) (ClinBio-GNE) GNE Myopathy None Older than 18 years, with confirmed diagnosis and must take part in the HIBM-PMP UX001-CL401 study Interventional Parallel assignment with blood and urine collection Institute of Myology

Paris
France

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NCT02346461 An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy GNE Myopathy
CDG
Drug: ManNac
Administration: Oral
GNE-CDG patients between 16-80 years with two GNE gene mutations identified Interventional Phase 2 National Institutes of Health Clinical Center

MD
United States

Nuria Carrillo, M.D.
NCT02377921 Phase 3 randomized, double-blind, placebo-controlled study to evaluate Sialic Acid in patients with GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) GNE Myopathy "Drug: Sialic Acid Tablets (UX001)
Administration: Oral"
Aged 18 to 55 years, inclusive with documented diagnosis, able to walk a minimum of 200 meters during the six-meter walk test (6MWT) at Screening without the use of assistive devices "Interventional Phase 3" Ultragenyx Pharmaceutical Inc Europe

United States

,

Canada

,

Israel

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NCT02511041 Immunologic Effects of Supplemental Monosaccharide and Nucleoside Derivatives in Patients With Inherited Disorders of Glycosylation PGM3-CDG Drugs: N-Acetylglucosamine (GlcNAc) / Uridine
Administration: Oral
PGM3-CDG patients older than 2 years with immunologic abnormalities and altered glycosylation detected using clinical tests evaluating N- and O-linked glycan by mass spectroscopy Interventional Phase 1 National Institutes of Health Clinical Center

MD
United States

Jonathan J Lyons, M.D.
NCT02731690 2015-004553-41 A study to evaluate the safety of Aceneuramic Acid Extended Release (Ace-ER) tablets in GNE Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy (HIBM)) patients with severe ambulatory impairment GNE Myopathy Drug: Aceneuramic Acid Extended-Release tablets
(Ace-ER)
Administration: Oral
Older than 18 years with documented diagnosis Interventional Phase 2 Ultragenyx Pharmaceutical Inc

United States

,

Canada

,

Bulgaria

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NCT02736188 2016-000360-42 Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) GNE Myopathy Drug: Aceneuramic Acid Extended-Release Tablets
(Ace-ER)
Administration: Oral
Have completed UX001-CL202, UX001-CL301 or UX001-CL203 studies Interventional Phase 3 Ultragenyx Pharmaceutical Inc Europe

United States

,

Canada

,

Israel

_
NCT02955264 Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation CDG
PGM1-CDG
Dietary Supplement: D-Galactose Children and adults up to 21 years with biochemically and genetically proven CDG Phase 2 Tulane University

United States

Eva Morava-Kozicz, PhD, MD
507-266-2967
morava-kozicz.eva@mayo.edu
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
NCT03250728 Role of the endothelium in stroke-like episode among CDG Patients (PECDG) CDG None Patients older than 6 years with CDG molecularly diagnosed Interventional Collection of blood by peripheral blood puncture Hopital Necker enfants malades

Paris
France

Pascale De Lonlay, MD, PhD
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
NCT03560570 Study of Hemostasis in Patients With Congenital Disorder of Glycosylation (CDG-Coag) CDG None CDG patients all ages Interventional Biological: Coagulation assay Hôpital Necker Enfants malades

Paris
France

Delphine Borgel, PharmaD, PhD
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
NCT04201067 Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism ALG13-CDG
PGM1-CDG
SLC35A2-CDG
None CDG patients all ages that have agreed to share samples/data Observational and retrospective Mayo Clinic

Rochester, MN
United States

Eva Morava-Kozicz, MD, PhD
+1 507-266-2967
morava-kozicz.eva@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 Tuesday, April 27, 2021 - 17:25