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Natural History Study Protocol in PMM2-CDG (CDG-Ia)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03173300
Recruitment Status : Active, not recruiting
First Posted : June 1, 2017
Last Update Posted : January 22, 2021
Sponsor:
Information provided by (Responsible Party):
Glycomine, Inc.

Brief Summary:

Clinical and Basic Investigations into Phosphomannomutase deficiency (PMM2-CDG)

This is a natural history (observational) protocol designed to collect clinical and biological information in patients with PMM2-CDG (CDG-Ia).


Condition or disease
Phosphomannomutase 2 Deficiency

Detailed Description:

Subjects enrolled in this natural history study will be thoroughly examined for signs and symptoms of PMM2-CDG. Medical history, physical examination, laboratory testing and imaging studies will be performed during a single consultation. Follow-up will occur every 6 months at a minimum, depending on the standard of care at the investigator's institution as well as the clinical status of the individual patient. All medical procedures are routine. No new therapy is offered as part of this study, and no change in the patients' routine therapy is dictated by this protocol. No randomization will be performed.

All serious and non-serious adverse events will be recorded in the study CRF database.

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Study Type : Observational
Estimated Enrollment : 120 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical and Basic Investigations Into Phosphomannomutase Deficiency (PMM2-CDG)
Actual Study Start Date : January 8, 2018
Estimated Primary Completion Date : September 2024
Estimated Study Completion Date : December 2024





Primary Outcome Measures :
  1. collect clinical and biological information in patients with CDG-PMM2 [ Time Frame: up to 4 years ]


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with PMM2-CDG, all ages
Criteria

Inclusion Criteria:

  • Informed consent/assent by the patient and/or their legally authorized representative
  • Confirmed diagnosis of PMM2-CDG, based on enzymatic or molecular tests
  • Willing and able to adhere to study requirements described in the protocol and consent/assent documents

Exclusion Criteria:

  • Known or suspected differential diagnosis of any other known CDG (not PMM2-CDG)
  • Currently using investigational drug
  • Blood loss of >250 mL or donated blood within 56 days, or donated plasma within 7 days, of study screening

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03173300


Locations
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United States, Louisiana
Tulane University Medical Center
New Orleans, Louisiana, United States, 70112
United States, Minnesota
Mayo Clinic College of Medicine
Rochester, Minnesota, United States, 55905
United States, Pennsylvania
Children's Hospital of Philadelphia (CHOP)
Philadelphia, Pennsylvania, United States, 19104
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224
United States, Washington
Seattle Children's Hospital
Seattle, Washington, United States, 98105
Belgium
University Hospital Leuven
Leuven, Belgium
Czechia
General University Hospital in Prague
Prague, Czechia
France
Necker Enfants-Malades Hospital
Paris, France
Italy
University Hospital of Catania
Catania, Italy
Netherlands
Radboud University Nejmegen Medical Center
Nijmegen, Netherlands
Poland
Mother and Child Institute (Instytut Matki i Dziecka)
Warsaw, Poland
Portugal
Centro Hospitalar do Porto
Porto, Portugal
Spain
Hospital Sant Joan de Déu
Barcelona, Spain
Sponsors and Collaborators
Glycomine, Inc.
Investigators
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Study Director: Horacio Plotkin, MD / Chief Medical Officer Glycomine, Inc.
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Glycomine, Inc.
ClinicalTrials.gov Identifier: NCT03173300    
Other Study ID Numbers: GLY-000
First Posted: June 1, 2017    Key Record Dates
Last Update Posted: January 22, 2021
Last Verified: December 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Glycomine, Inc.:
PMM2-CDG
CDG-Ia