ALG12-congenital disorder of glycosylation
MONDO:0011783A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).
Also known as: ALG12-CDG, ALG12-congenital disorder of glycosylation, CDG syndrome type Ig, CDG-Ig, CDG1G, CDGIg, carbohydrate deficient glycoprotein syndrome type Ig, congenital disorder of glycosylation type 1g
26 clinical trials for this condition and its sub-types.
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New chemo combo may lower death risk in child stem cell transplants
Disease control CompletedThis study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…
Phase: PHASE2 • Sponsor: medac GmbH • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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New metabolomic test could spot rare metabolic diseases faster
Diagnosis CompletedThis study tested a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accuratel…
Sponsor: Mayo Clinic • Aim: Diagnosis
Last updated Jun 27, 2026 07:53 UTC
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New registry tracks pregnancy in women with rare metabolic diseases
Knowledge-focused CompletedThis study created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to …
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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Study explores how family and friends impact caregiver health
Knowledge-focused CompletedThis completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC
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Tiny study probes why CDG patients have Stroke-Like events
Knowledge-focused CompletedThis study looked at how the cells lining blood vessels (endothelial cells) might be involved in stroke-like episodes in people with Congenital Disorders of Glycosylation (CDG). Researchers took blood samples from 6 CDG patients and grew their endothelial cells in the lab to test…
Phase: NA • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:04 UTC
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Study reveals HPV vaccine gaps in teens with chronic illness
Knowledge-focused CompletedThis study looked at how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:59 UTC