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Clinical Trials

DISCOVER CLINICAL STUDIES ON CDG

There are several ongoing clinical trials for CDG, with some trials actively recruiting participants. These studies vary from investigating specific CDG types to all CDG types and include both clinical trials to evaluate new potential therapies and observational studies such as natural history studies.

More information on clinical studies in CDG can be found on the following websites:

ClinicalTrials.gov
NIH Clinical Research studies
EudraCT

  • CDG Type(s): PMM2-CDG
  • Study Type: Clinical Trial, Phase II/III
  • Location: United States, Multi-Centre
  • Status: Recruiting

Mayo Clinic, in collaboration with Seattle Children’s Hospital and Children’s Hospital of Philadelphia, is conducting an interventional, randomized, double-blind, placebo-controlled study on PMM2-CDG. The purpose of this study is to assess efficacy of acetazolamide treatment of improving ataxia in PMM2-CDG patients, while monitoring adverse reactions, effects on biomarkers and characteristics of patients who do not respond to acetazolamide treatment.

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  • CDG Type(s): All CDG Types
  • Study Type: Observational
  • Location: United States, Multi-Centre
  • Status: Recruiting

The Frontiers in CDG Consortium is conducting a multi-site 5-year natural history study on CDG.  The purpose of this study is to define the natural history and clinical symptoms of CDG, develop new diagnostic techniques, identify clinical biomarkers that can be used in future clinical trials and evaluate whether dietary treatments improve clinical symptoms and quality of life in CDG patients.

 

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  • CDG Type(s): All CDG Types
  • Study Type: Observational
  • Location: United States, Multi-Centre
  • Status: Active, Recruiting

The National Institutes of Health Clinical Center (CC) (National Human Genome Research Institute (NHGRI)) is conducting an observational, prospective study on CDG. The purpose of this study is to identify the defects in known and unknown CDG through molecular analysis, while generating a library of samples for other investigations.

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  • CDG Type(s): PGM1-CDG
  • Study Type: Observational
  • Location: United States
  • Status: Recruiting

Mayo Clinic is conducting an observational, prospective study on CDG. The purpose of this study is to assess effects of monosaccharide dietary supplements on growth, blood sugar levels, liver function results and coagulation results in children.

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  • CDG Type(s): ALG13-CDG, PGM1-CDG, SLC35A2-CDG, NGLY1 deficiency
  • Study Type: Observational
  • Location: MN, United States
  • Status: Active, Recruiting

Mayo Clinic and the National Institute of Neurological Disorders and Stroke (NINDS) are conducting an observational, retrospective study on ALG13-CDG, PGM1-CDG SLC35A2-CDG and NGLY1 deficiency. The purpose of this study is to assess the diagnostic efficacy of metabolomic profiling of inborn errors of metabolism and identify/validate biomarkers for these CDG types.

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  • CDG Type(s): GNE myopathy
  • Study Type: Clinical Trial, Phase II
  • Location: United States, Multi-Centre
  • Status: Active, Recruiting

Leadiant Biosciences, Inc. is conducting a randomized, placebo-controlled, double-blind, multi-center study to evaluate the long-term safety and clinical efficacy of ManNAc in subjects with GNE myopathy.

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  • CDG Type(s): GNE-CDG
  • Study Type: Observational
  • Location: MD, United States
  • Status: Active, Recruiting

The National Institutes of Health Clinical Center (CC) (National Human Genome Research Institute (NHGRI)) is conducting an observational, prospective natural history study on -GNE-CDG). The purpose of this study is to define the natural history, clinical features, disease progression and complications of GNE myopathy (and related disease), as well as identify biomarkers.

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  • CDG Type(s): PMM2-CDG
  • Study Type: Observational
  • Location: Multi-Centre; United States, Belgium, Czechia, France, Italy, Netherlands, Poland, Portugal, Spain
  • Status: Active, Not Recruiting

Glycomine, Inc. is conducting an observational, prospective natural history study on PMM2-CDG. The purpose of this study is to define the natural history of PMM2-CDG by obtaining information (biological/clinical) from individuals affected by PMM2-CDG.

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  • CDG Type(s): PMM2-CDG
  • Study Type: Clinical Trial, Phase II
  • Location: United States
  • Status: Not yet recruiting

The Mayo Clinic is planning a Phase 2 clinical trial on the use of oral Epalrestat therapy in pediatric PMM2-CDG patients. The purpose of the study is to evaluate the safety, tolerability, metabolic improvement and likely efficacy of Epalrestat at treating PMM2-CDG.

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  • CDG Type(s): PGM1-CDG
  • Study Type: Clinical Trial, Phase I/II
  • Location: Turkey
  • Status: Unknown

Orpha Labs is conducting an interventional study on PGM1-CDG. The purpose of this study is to assess effects of galactose treatment on liver function and serum transferrin glycosylation pattern in PGM1-CDG patients.

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  • CDG Type(s): MPI-CDG
  • Study Type: Clinical Trial, Phase I/II
  • Location: Turkey
  • Status: Unknown

Orpha Labs is conducting an interventional study (clinical trial) on MPI-CDG. The purpose of this study is to assess the ability of mannose to treat hypoglycemia, diarrhoea and vomiting and improve serum transferrin glycosylation patterns in MPI-CDG patients.

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