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

January 27, 2022 updated by: Glycomine, Inc.

Clinical and Basic Investigations Into Phosphomannomutase Deficiency (PMM2-CDG)

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).

Study Overview

Status

Active, not recruiting

Conditions

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.

Study Type

Observational

Enrollment (Anticipated)

120

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Belgium
      • Leuven, Belgium
        • University Hospital Leuven
  • Czechia
      • Prague, Czechia
        • General University Hospital in Prague
  • France
      • Paris, France
        • Necker Enfants-Malades Hospital
  • Italy
      • Catania, Italy
        • University Hospital of Catania
  • Netherlands
      • Nijmegen, Netherlands
        • Radboud University Nejmegen Medical Center
  • Poland
      • Warsaw, Poland
        • Mother and Child Institute (Instytut Matki i Dziecka)
  • Portugal
      • Porto, Portugal
        • Centro Hospitalar do Porto
  • Spain
      • Barcelona, Spain
        • Hospital Sant Joan de Deu
  • United States
    • Louisiana
      • New Orleans, Louisiana, United States, 70112
        • Tulane University Medical Center
    • Minnesota
      • Rochester, Minnesota, United States, 55905
        • Mayo Clinic College of Medicine
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Children's Hospital of Philadelphia (CHOP)
      • Pittsburgh, Pennsylvania, United States, 15224
        • Children's Hospital of Pittsburgh
    • Washington
      • Seattle, Washington, United States, 98105
        • Seattle Children's Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with PMM2-CDG, all ages

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
collect clinical and biological information in patients with CDG-PMM2
Time Frame: up to 4 years
up to 4 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Glycomine, Inc.

Investigators

  • Study Director: Horacio Plotkin, MD / Chief Medical Officer, Glycomine, Inc.

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 8, 2018

Primary Completion (Anticipated)

September 1, 2024

Study Completion (Anticipated)

December 1, 2024

Study Registration Dates

First Submitted

May 30, 2017

First Submitted That Met QC Criteria

May 30, 2017

First Posted (Actual)

June 1, 2017

Study Record Updates

Last Update Posted (Actual)

January 31, 2022

Last Update Submitted That Met QC Criteria

January 27, 2022

Last Verified

January 1, 2022

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • GLY-000

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Undecided

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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