The prognosis for PMM2-CDG patients is poor and there are currently no FDA-approved drugs. Current treatments are primarily supportive care to manage symptoms. Such care can include:

  • Maintain caloric intake and nutrition in infancy
  • Monitor for hepatic dysfunction, pericardial and/or pleural effusion
  • Non-medical interventions including occupational, physical and speech therapy, remedial education
  • Ophthalmic exams and corrective surgery as needed
  • Orthopedic or surgical intervention for skeletal and/or neuromuscular abnormalities
  • HRT for endocrine disorders e.g. hypothyroidism, ovarian insufficiency
  • Anticonvulsants for seizure control

Given the severity of symptoms across all stages of PMM2-CDG, significant unmet medical need exists.