Orphanet Publishes Clinical Management Guidelines for NPC

APRIL 06, 2018
Mathew Shanley
Tarekegn Geberhiwot, MD, of the Institute of Metabolism and Systems Research at the University of Birmingham and colleagues had an article published in the Orphanet Journal of Rare Diseases this week, outlining the development of clinical management recommendations for Niemann-Pick disease type C.1

The work, titled, “Consensus clinical management guidelines for Niemann-Pick disease type C,” was developed through input from experts with extensive experience of European, Australian and North American healthcare systems and populations with the anticipation that its implementation will lead to a step change in the quality of care for patients with NPC. Additional contributions were made by geneticists, allied healthcare professionals and patient support groups involved in the International Niemann-Pick Disease Registry (INPDR) project.

While some countries have national standard operating procedures to improve the care of individuals living with NPC, the International Niemann-Pick Disease Alliance (INPDA) has not previously initiated the development of a comprehensive disease management resource to provide knowledge and understanding for the multidisciplinary team, or to support patients and their primary caregivers on the diagnosis, treatment, monitoring and outcome measures for patients.

The guidelines refer to the management of patients suspected of diagnosed with NPC at any age, and are expected to be valuable to: specialist centers, other hospital-based medical teams and other staff involved with care for the patient population, as well as family physicians and other primary caregivers. Especially, though, the guidelines should aid patients and their families.

By using the Delphi method, a technique that relies on a panel of experts, both the “level of evidence” and the “strength of recommendation” of certain statements believed to be true by the NPC community were brought into the light, and those that required significant revision were addressed.

For example, the statement “All patients with a confirmed diagnosis of NPC should be considered for miglustat therapy” raised questions, as 25% of experts stated that they “mostly disagreed,” and 13% chose to “completely disagree” with the notion. Historical data from a natural history study conducted in 2009 showed that more than 85% of NPC patients showed neurological disease progression after treatment.

“These guidelines are the result of an international collaboration of experts in the care of NPC and the evidence gathered to write these guidelines is the best evidence available to the experts,” the article concluded. “These guidelines address the management of children and adults affected by NPC and are intended to facilitate optimal care to all NPC patients regardless of their demography and access to health care.”

“In addition, it defines standard of care against which practice can be audited and best practice can be spread. The Guidelines Working Group commits itself to revise this work in 5 years’ time to reflect new data pertaining to future research findings and new therapies.”

The guidelines will be published in an open-access journal and made freely accessible through the INPDR and INPDA websites. They will be revised every 3-5 years to reflect new data pertaining to future research findings, new therapies and development of diagnostic methods.

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  1. Geberhiwot T, Moro A, Dardis A; Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet Journal of Rare Disease. 2018.13:50. doi.org/10.1186/s13023-018-0785-7. Accessed April 6 2018.

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