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



Status:Recruiting
Healthy:No
Age Range:Any
Updated:3/31/2019
Start Date:January 8, 2018
End Date:December 2021
Contact:Mary Jo Bagger / Sr. Director, Clinical Operations
Email:mbagger@glycomine.com
Phone:+1 (858) 500-6621

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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).

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.

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.

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
We found this trial at
7
sites
New Orleans, Louisiana 70112
Phone: 504-988-5229
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Leuven,
Principal Investigator: Peter Witters, MD, PhD
Phone: +32 16 34 19 47
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Philadelphia, Pennsylvania 19104
Principal Investigator: Can Ficicioglu, MD, PhD
Phone: 267-426-1368
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3414 Fifth Avenue
Pittsburgh, Pennsylvania 15213
Principal Investigator: Gerard Vockley, MD, PhD
Phone: 412-692-5969
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200 1st St SW
Rochester, Minnesota 55905
(507) 284-2316
Principal Investigator: Marc Patterson, MD, PhD
Phone: 507-293-7485
Mayo Clinic College of Medicine Mayo Medical School enrolls a select class of 50 medical...
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4800 Sand Point Way NE
Seattle, Washington 98105
(206) 987-2000
Principal Investigator: Christina Lam, MD
Phone: 206-987-1304
Seattle Children's Hospital Seattle Children’s Hospital specializes in meeting the unique physical, emotional and developmental...
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450 Serra Mall
Stanford, California 94305
(650) 723-2300
Stanford University Stanford University, located between San Francisco and San Jose in the heart of...
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