Clinical trial NCT03173300: Natural History Study Protocol in PMM2-CDG (CDG-Ia)
Official title: Clinical and Basic Investigations Into Phosphomannomutase Deficiency (PMM2-CDG)
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Phosphomannomutase 2 Deficiency
Keywords: PMM2-CDG
CDG-Ia
Lead sponsor: Glycomine, Inc.
Sponsor class: INDUSTRY
First posted: 2017-06-01
Enrollment: 120
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with PMM2-CDG, all ages

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).

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 3- 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. The International Co-Operative Ataxia Rating Scale (ICARS) is to be performed every 3 months as an optional assessment. No randomization will be performed.

Eligibility 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 before study screening

Primary outcomes:
measure: Collect clinical and biological information in patients with CDG-PMM2
timeFrame: up to 5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Rochester
country: United States
facility: Mayo Clinic College of Medicine
state: Minnesota
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia (CHOP)
state: Pennsylvania
city: Seattle
country: United States
facility: Seattle Children's Hospital
state: Washington
city: Leuven
country: Belgium
facility: University Hospital Leuven
city: Prague
country: Czechia
facility: General University Hospital in Prague
city: Paris
country: France
facility: Necker Enfants-Malades Hospital
city: Catania
country: Italy
facility: University Hospital of Catania
city: Nijmegen
country: Netherlands
facility: Radboud University Nejmegen Medical Center
city: Warsaw
country: Poland
facility: Mother and Child Institute (Instytut Matki i Dziecka)
city: Porto
country: Portugal
facility: Centro Hospitalar do Porto
city: Barcelona
country: Spain
facility: Hospital Sant Joan de Déu
Study officials:
affiliation: Glycomine, Inc.
name: Chief Medical Officer
role: STUDY_DIRECTOR
References:
citation: Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K. Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? Mol Genet Metab. 2021 Aug;133(4):397-399. doi: 10.1016/j.ymgme.2021.06.003. Epub 2021 Jun 11.