The prognosis for PMM2-CDG patients is poor and there are currently no FDA-approved treatments. 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 need exists for nearly all patients.