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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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03173300
Recruitment Status : Recruiting
First Posted : June 1, 2017
Last Update Posted : March 29, 2019
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).

Data from this natural history study will be used to determine a set of clinical and biological parameters that will be used for primary and secondary endpoints in a later clinical trial with a new chemical entity, Lipo-M1P.

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.

Since no new therapy is offered as part of this study and no change in the patients' routine therapy is dictated by this protocol, only Serious Adverse Events potentially related to a procedure specifically requested (if any) by this natural history study will need to be reported to the Sponsor. However, all non-serious adverse events will be recorded in the natural history (observational) study CRF database, in order to be considered as a reference for the planned clinical trial to occur later on under a separate protocol.

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Study Type : Observational
Estimated Enrollment : 48 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 2021
Estimated Study Completion Date : December 2021

Primary Outcome Measures :
  1. collect clinical and biological information in patients with CDG-PMM2 [ Time Frame: up to 3 years ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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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

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)
  • Plan to use investigational drug during study participation
  • 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 identifier (NCT number): NCT03173300

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Contact: Mary Jo Bagger / Sr. Director, Clinical Operations +1 (858) 500-6621

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United States, California
Stanford University Not yet recruiting
Stanford, California, United States, 94305
Contact: Chung Lee, MD         
United States, Louisiana
Tulane University Medical Center Recruiting
New Orleans, Louisiana, United States, 70112
Contact: Hans C Andersson, MD    504-988-5229   
Contact: Heley Severin, Study Coordinator    504-988-0653   
Sub-Investigator: Eva Morava-Kozicz, MD, PhD         
United States, Minnesota
Mayo Clinic College of Medicine Recruiting
Rochester, Minnesota, United States, 55905
Contact: Sarah Bohlen, Study Coordinator    507-293-7485   
Contact: Eva Morava-Kozicz, MD, PhD    504-444-9386   
Principal Investigator: Marc Patterson, MD, PhD         
United States, Pennsylvania
Children's Hospital of Philadelphia (CHOP) Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Genevieve Nesom    267-426-1368   
Contact: Andrew Edmondson, MD, PhD    215-313-4607 ext 22178   
Principal Investigator: Can Ficicioglu, MD, PhD         
Children's Hospital of Pittsburgh Recruiting
Pittsburgh, Pennsylvania, United States, 15224
Contact: Sandra Braden    412-692-5969   
Principal Investigator: Gerard Vockley, MD, PhD         
United States, Washington
Seattle Children's Hospital Recruiting
Seattle, Washington, United States, 98105
Contact: Matthew Greever    206-987-1304   
Contact: Christina Lam, MD   
Principal Investigator: Christina Lam, MD         
University Hospital Leuven Recruiting
Leuven, Belgium
Contact: Nele Vanhoutvin, Paramedisch coördinator Metabole Ziekten    +32 16 34 19 47   
Contact: Peter Witters, MD, PhD   
Principal Investigator: Peter Witters, MD, PhD         
General University Hospital in Prague Not yet recruiting
Prague, Czechia
Contact: Tomas Honzik, MD, PhD   
Necker Enfants-Malades Hospital Recruiting
Paris, France
Contact: Pascale de Lonlay, MD   
University Hospital of Catania Not yet recruiting
Catania, Italy
Contact: Rita Barone, MD, PhD         
Radboud University Nejmegen Medical Center Not yet recruiting
Nijmegen, Netherlands
Contact: Mirian Janssen, MD PhD    +31 24 361 8819   
Mother and Child Institute (Instytut Matki i Dziecka) Not yet recruiting
Warsaw, Poland
Contact: Jolanta Sykut-Cegielska, MD, PhD         
Centro Hospitalar do Porto Not yet recruiting
Porto, Portugal
Contact: Dulce Quelhas, MD         
Sponsors and Collaborators
Glycomine, Inc.
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Study Director: Patrice Rioux MD, PhD / Chief Medical Officer Glycomine, Inc.

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Responsible Party: Glycomine, Inc. Identifier: NCT03173300     History of Changes
Other Study ID Numbers: GLY-000
First Posted: June 1, 2017    Key Record Dates
Last Update Posted: March 29, 2019
Last Verified: March 2019
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.: