Phase I clinical trial of ManNAc in patients with GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)


Status: Completed
Study Identifier: NCT01634750
Disorders / CDG Type(s): Nonaka myopathy
Therapeutic approach:
Drug: ManNac
Administration: Oral
Eligibility: GNE-CDG patients between 16-80 years with two GNE gene mutations identified
Study Type: Interventional Phase 1
Industry / Institution(s):
National Institutes of Health Clinical Center
Locations:
MD United States
Ecuador
Contacts:
Nuria Carrillo, M.D.

https://www.clinicaltrials.gov/ct2/show/NCT01634750?term=NCT01634750&draw=2&ran…

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)


Status: Completed
Study Identifier: NCT01517880
Disorders / CDG Type(s): Nonaka myopathy
Therapeutic approach:
Drug: Sialic Acid Extended Release (SA-ER)
Administration: Oral
Eligibility: Between 18 and 65 years of age, inclusive with documented diagnosis; able to walk 20 meters independently
Study Type: Interventional Phase 2
Industry / Institution(s):
Ultragenyx Pharmaceutical Inc
Locations:
United States
Israel
Contacts:
Alan Pestronk, MD
Perry Shieh, MD
Yoseph Caraco, MD
Heather Lau, MD

https://www.clinicaltrials.gov/ct2/show/NCT01517880?term=NCT01517880&draw=2&ran…

A natural history study of patients with GNE Myopathy and GNE-related diseases


Status: Active, Recruiting
Study Identifier: NCT01417533
Disorders / CDG Type(s): Nonaka myopathy
Therapeutic approach:
None
Eligibility: Individuals between 18-80 years who have GNE Myopathy and do not use a wheelchair
Study Type: Observational
Industry / Institution(s):
National Institutes of Health Clinical Center
Locations:
MD United States
Contacts:
Yan Kang
+1(240) 383-2454
yan.kang2@nih.gov

William A Gahl, M.D.
+1(301) 402-2739
gahlw@mail.nih.gov

https://www.clinicaltrials.gov/ct2/show/NCT01417533?term=NCT01417533&draw=2&ran…

Safety and pharmacokinetics of Sialic Acid tables in patients With Hereditary Inclusion Body Myopathy (HIBM)


Status: Completed
Study Identifier: NCT01359319
Disorders / CDG Type(s): Nonaka myopathy
Therapeutic approach:
Drug: Sialic Acid Extended Release (SA-ER) tablets
Administration: Oral
Eligibility: 18 years to 70 years of age with documented diagnosis
Study Type: Interventional Phase 1
Industry / Institution(s):
Ultragenyx Pharmaceutical Inc
Locations:
United States
Contacts:
_

https://www.clinicaltrials.gov/ct2/show/NCT01359319?term=NCT01359319&draw=2&ran…

Pharmacokinetic study on N- acetylneuraminic Acid


Status: Completed
Study Identifier: NCT01236898
Disorders / CDG Type(s): Nonaka myopathy
Therapeutic approach:
Drug: N-acetylneuraminic acid (anhydride) (NPC-09)
Administration: Oral
Eligibility: Between 20 and 40 years with confirmed mutations in GNE gene
Study Type: Interventional Phase 1
Industry / Institution(s):
Tohoku University Hospital
Locations:
Miyagi Japan
Contacts:
Masashi Aoki

https://www.clinicaltrials.gov/ct2/results?cond=&term=NCT01236898&cntry=&state=…

Intravenous immune globulin to treat Hereditary Inclusion Body Myopathy


Status: Completed
Study Identifier: NCT00195637
Disorders / CDG Type(s): Nonaka myopathy
Therapeutic approach:
Drug: Immune Globulin
Administration: intravenous
Eligibility: 18 years to 70 years of age with documented diagnosis
Study Type: Interventional Phase 1
Industry / Institution(s):
National Institutes of Health Clinical Center
Locations:
MD United States
Contacts:
William A Gahl, M.D.

https://www.clinicaltrials.gov/ct2/show/NCT00195637?term=NCT00195637&draw=2&ran…

Phase II clinical trial to evaluate the effectiveness and safety of acetazolamide in the treatment of cerebellar syndrome in patients with PMM2-CDG deficiency


Status: Completed
Study Identifier: 2017-000810-44
Disorders / CDG Type(s): PMM2-CDG
Therapeutic approach:
Drug: Acetazolamide
Administration: Oral
Eligibility: PMM2-CDG patients from 5 to 21 years with molecular study confirming PMM2-CDG deficiency
Study Type: Interventional Phase 2
Industry / Institution(s):
Fundació Sant Joan de Déu
Locations:
Spain
Contacts:
Dr. Mercedes Serrano
Silvia Martinez
silvia.martinez@sail-biometria.com

https://www.clinicaltrialsregister.eu/ctr-search/trial/2017-000810-44/ES

CDG jouney mapping from information to definitive diagnosis- needs, experiences and perspectives


Status: Research Study
Disorders / CDG Type(s): All CDGs
Study Type: Observational (web survey to collect information about immunological affectation in CDG patients)
Industry / Institution(s):
The Portuguese Association for CDG
CDG & Allies-PPAIN
Locations:
Worldwide
Contacts:
Vanessa Ferreira
vmr.ferreira@fct.unl.pt

More Details Here

CDG Symptom Prioritization Questionnaire – (CDGSPQ)


Status: Research Study
Disorders / CDG Type(s): All CDGs
Study Type: Observational (web survey to collect information about immunological affectation in CDG patients)
Industry / Institution(s):
The Portuguese Association for CDG
CDG & Allies-PPAIN
Locations:
Worldwide
Contacts:
Catia Neves
cj.neves@fct.unl.pt

More Details Here

Immunology CDG Questionnaire (ImmunoCDGQ)


Status: Research Study
Disorders / CDG Type(s): All CDGs
Study Type: Observational (web survey to collect information about immunological affectation in CDG patients)
Industry / Institution(s):
The Portuguese Association for CDG
CDG & Allies-PPAIN
Locations:
Worldwide
Contacts:
Rita Francisco
rab.francisco@campus.fct.unl.pt

More Details Here


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