PMM2-congenital disorder of glycosylation
MONDO:0008907The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.
Also known as: CDG 1A, CDG syndrome type Ia, CDG-IA, CDG1A, PMM2-CDG, PMM2-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type Ia, congenital disorder of glycosylation type 1a
31 clinical trials for this condition and its sub-types.
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Hope for rare disease: new drug shows promise in Long-Term study
Disease control ENROLLING_BY_INVITATIONThis study is for people with PMM2-CDG, a rare genetic disorder, who have already taken the experimental drug GLM101 in a previous trial. The goal is to see if GLM101 is safe and effective over a longer period. Participants will receive weekly infusions of GLM101 at the same dose…
Phase: PHASE2 • Sponsor: Glycomine, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:10 UTC
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Experimental drug GLM101 targets rare PMM2-CDG in pivotal trial
Disease control OngoingThis study tests a drug called GLM101 for people with PMM2-CDG, a rare inherited disease that affects movement and coordination. About 50 children and adults will receive weekly infusions of either GLM101 or a placebo for 24 weeks, followed by an open-label phase where everyone g…
Phase: PHASE2, PHASE3 • Sponsor: Glycomine, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:08 UTC
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New vitamin supplements aim to make life easier for kids with rare metabolic disorders
Symptom relief OngoingThis study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…
Phase: NA • Sponsor: NeoteriQ Ltd. • Aim: Symptom relief
Last updated Jun 27, 2026 13:00 UTC
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Massive genetic study aims to unlock secrets of rare metabolic diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …
Sponsor: Region Stockholm • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:38 UTC
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Study on COVID-19 and metabolic disorders pulled before it began
Knowledge-focused TerminatedThis study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC
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Researchers track rare disease PMM2-CDG to unlock clues for future treatments
Knowledge-focused OngoingThis study is gathering medical information from 120 people with PMM2-CDG, a rare genetic disorder. Researchers will track growth, organ function, and development over time. The goal is to better understand the disease and help design future treatments. No new drugs are being tes…
Sponsor: Glycomine, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:57 UTC