Phosphomannomutase 2 DeficiencyNCT03173300
Natural History Study Protocol in PMM2-CDG (CDG-Ia)
An observational study of Phosphomannomutase 2 Deficiency, run by Glycomine, Inc. at 11 sites in 9 countries.
Trial 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). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Phosphomannomutase 2 Deficiency
- How many people
- 139 participants
- Where
- 11 sitesin 9 countries
- Study dates
- 8 Jan 2018to 9 Apr 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with PMM2-CDG, all ages
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
11 sites in 9 countries.
11 sites in 9 countries
United States3 sites
Children's Hospital of Philadelphia (CHOP)
Philadelphia, Pennsylvania, 19104
Mayo Clinic College of Medicine
Rochester, Minnesota, 55905
Seattle Children's Hospital
Seattle, Washington, 98105
About this study
Official title: 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).
Read the 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.
- Conditions
- Phosphomannomutase 2 Deficiency
- Keywords
- PMM2-CDG, CDG-Ia
- Medical subject headings
- Congenital disorder of glycosylation type 1A
What is being measured
The primary outcome is the main question the study is designed to answer.
Collect clinical and biological information in patients with CDG-PMM2
Growth parameter, organ function tests, developmental tests, standard laboratory tests, disease severity score according to Nijmegen Paediatric CDG Rating Scale (NPCRS)
Measured: up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Jun 2017
- Study start8 Jan 2018
- Primary completion9 Apr 2026
- Study completion9 Apr 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Phosphomannomutase 2 DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 139 participants (actual)
Sponsor and investigators
- Lead sponsor
- Glycomine, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Chief Medical Officer, Study director, Glycomine, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03173300
- Sponsor's protocol ID
- GLY-000
- Status last verified
- Jul 2026
- First submitted
- 30 May 2017
- Last updated
- 8 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Pajusalu S, Vals MA, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Berat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, McWilliams P, Vernhes F, Plotkin H, Morava E, Ounap K. Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG. Hum Mutat. 2024 Oct 3;2024:8813121. doi: 10.1155/2024/8813121. eCollection 2024.
PubMed 40225925Cechova 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.
PubMed 34140212
Study at a glance
From the registry record, last updated by the sponsor on 8 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Basic Investigations Into Phosphomannomutase Deficiency (PMM2-CDG)
- ClinicalTrials.gov ID
- NCT03173300
- Acronym / sponsor ID
- GLY-000
- Conditions
- Phosphomannomutase 2 Deficiency
- Keywords
- PMM2-CDG, CDG-Ia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 139 participants (actual)
- Lead sponsor
- Glycomine, Inc.Industry (pharma, biotech, devices)
- Study start
- 8 Jan 2018 (actual)
- Primary completion
- 9 Apr 2026 (actual)
- Study completion
- 9 Apr 2026 (actual)
- First posted
- 1 Jun 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with PMM2-CDG, all ages
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Collect clinical and biological information in patients with CDG-PMM2
Time frame: up to 5 years
Growth parameter, organ function tests, developmental tests, standard laboratory tests, disease severity score according to Nijmegen Paediatric CDG Rating Scale (NPCRS)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jul 2026.
- Derived from this study: PubMed 40225925Pajusalu S, Vals MA, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Berat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, McWilliams P, Vernhes F, Plotkin H, Morava E, Ounap K. Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG. Hum Mutat. 2024 Oct 3;2024:8813121. doi: 10.1155/2024/8813121. eCollection 2024.
- Derived from this study: PubMed 34140212Cechova 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.
- Individual participant dataSharing planned: Undecided
Related trials for Phosphomannomutase 2 Deficiency
Enrolling by invitationPhase 2
Open-Label Extension Study to Assess GLM101 in PMM2-CDG Patients
Pmm2-CDG, Phosphomannomutase 2 Deficiency
Active, not recruitingPhase 2/3
A Study to Assess the Efficacy and Safety of Weekly Doses of GLM101 in Participants With PMM2-CDG
Phosphomannomutase 2 Deficiency, PMM2-CDG
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Chief Medical Officer study director
Glycomine, Inc.
11 sites in 9 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phosphomannomutase 2 Deficiency, run by Glycomine, Inc. at 11 sites in 9 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 sites in United States, Belgium, Czechia, France, Italy and 4 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Collect clinical and biological information in patients with CDG-PMM2 (time frame: up to 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03173300, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jul 2026; AzTrials last refreshed its copy on 30 Oct 2026.