The diagnosis can be confirmed by identifying mutations in the NPC1 or NPC2 genes in 80–90% of cases. This specialized testing is available at Thomas Jefferson University Lysosomal Disease Testing Lab and the Mayo Clinic. Treatment
There is no known cure for Niemann–Pick type C, nor is there any FDA-standard approved disease modifying treatment. Supportive care is essential and substantially improves the quality of life of people affected by NPC. The therapeutic team may include specialists in neurology, pulmonology, gastroenterology, psychiatrist, orthopedics, nutrition, physical therapy and occupational therapy. Standard medications used to treat symptoms can be used in NPC patients. As patients develop difficulty with swallowing, food may need to be softened or thickened, and eventually, parents will need to consider placement of a gastrostomy tube (g-tube, feeding tube). Arimoclomol
In 2014, the European Medicines Agency (EMA) granted orphan drug designation to arimoclomol for the treatment of Niemann–Pick type C. This was followed in 2015 by the U.S. Food and Drug Administration (FDA). Dosing in a placebo-controlled phase II/III clinical trial to investigate treatment for Niemann–Pick type C (for patients with both type C1 and C2) using arimoclomol began in 2016. Arimoclomol, which is orally administered, induces the heat shock response in cells and is well tolerated in humans. In 2018, the Sponsor announced the trial did not meet either its primary or secondary endpoints. On July 17, 2021, the US Food and Drug Administration rejected the New Drug Application for Arimoclomol, and issued a complete response letter to the company Sponsor.
Aortopulmonary window (APW) refers to a congenital heart defect similar in some ways to persistent truncus arteriosus. Persistent truncus arteriosus involves a single valve; aortopulmonary window is a septal defect.A large number of patients with a large APW usually die within 1 year of age. It is extremely rare to find cases of APW surviving till adult age and it is still rare to surgically treat such patients who are incidentally detected in adult age because such subsets of patients invariably have associated pulmonary vascular obstructive disease in advanced stage and thus there is therapeutic dilemma to surgically correct these patients.Although cases of uncorrected APW presenting in adulthood have been reported but literature on surgically treated AP window in adult populations is limited. A rare case of successful surgical management of an incidentally detected large APW with reversible pulmonary arterial hypertension has been reported as isolated case reports. See also
Aortic window
Major aortopulmonary collateral artery, developes when native pulmonary circulation is underdeveloped

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