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Completed

Completed Clinical Trials

Study Identifier Study Name Disorders / CDG Type(s) Therapeutic approach Eligibility Study Type Industry / Institution(s) Region Location Contact Persons Direct Link
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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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
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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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
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
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

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