The Detection and Diagnosis of Niemann–Pick Disease Type C

Release Date: August 29, 2026
Expiration Date: August 29, 2027

Activity Overview
This case-based educational program is designed to improve clinician competence in the early recognition and diagnosis of Niemann–Pick disease type C (NPC). Through two interactive virtual patient simulations based on real-world diagnostic scenarios, participants will learn to identify age-dependent clinical red flags, differentiate NPC from common neurologic and psychiatric mimics, apply contemporary diagnostic pathways, interpret biomarker and genetic testing results, and recognize the diagnostic significance of ocular motor abnormalities such as vertical supranuclear saccade palsy. The activity aims to reduce diagnostic delay and support earlier referral and multidisciplinary evaluation of children and adolescents with suspected NPC.

Target Audience
This activity is designed for neurologists, pediatric neurologists, neurogeneticists, pediatricians, psychiatrists, ophthalmologists, geneticists, and other physicians involved in the recognition, diagnostic evaluation, referral, and multidisciplinary management of children and adolescents with suspected NPC.

In support of improving patient care, this activity has been planned and implemented by AKH Inc., Advancing Knowledge in Healthcare and Orakle LLC. AKH Inc., Advancing Knowledge in Healthcare is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Faculty members
Barbara Burton, MD
Caroline Hastings, MD
Case simulations
Daniel R. An adolescent male with progressive neuropsychiatric decline
Maya R. A 4-year-old girl with hypotonia, developmental delay, and splenomegaly
Start case
Start case
CE credit provided by AKH Inc., Advancing Knowledge in Healthcare.
Criteria for Success
- To obtain a certificate of completion, a score of 70% or better on the post-test is required. Please proceed with the activity until you have successfully completed this program, answered all test questions, completed the post-test and evaluation, and have received a digital copy of your certificate. You must participate in the entire activity to receive credit. There is no fee to participate in this activity. If you have questions about this activity, please contact AKH Inc. at [email protected].

https://akhcme.com/content/detection-and-diagnosis-niemann-pick-type-c
‍
Credit Claim Instructions
1. Click the claim link: https://akhcme.com/content/detection-and-diagnosis-niemann-pick-type-c.
2. Log in or create an account in the system. All first-time users are required to create an account.
Once complete, the course will appear in your 'Pending Activities' list, found under the 'Activities' tab on your profile page (upper right-hand corner).
3. Proceed to the ‘Register/Take Course’ tab to complete the Course Evaluation & Certificate steps for the activity.
4. Click ‘Get Started.’

Physicians
AKH Inc., Advancing Knowledge in Healthcare designates this enduring activity for a maximum of 1.00 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
‍
Commercial Support
This activity is supported by an independent medical education grant from Zevra Therapeutics.

Disclosures
Barbara Burton MD (faculty)
Consultant: Alltrna, Inc., Applied Therapeutics, Chiesi, Denali, JCR Pharma, Moderna, Ultragenyx and uniQure
Speaker: BioMarin and Zevra Therapeutics

Caroline Hastings MD (faculty)
Consultant: Azafaros, Zevra Therapeutics, IntraBio and CycloTherapeutics
‍
Dorothy Caputo, MA, BSN, RN - President
Nothing to disclose
‍
Rebecca Lakowski, RN (planner/reviewer)
Nothing to disclose
‍
AKH Inc Staff and Planners
Nothing to disclose
‍
Orakle LLC Staff and Planners
Nothing to disclose

‍Disclosures
It is the policy of AKH Inc. to ensure independence, balance, objectivity, scientific rigor, and integrity in all of its continuing education activities. The author must disclose to the participants any significant relationships with ineligible companies whose products or devices may be mentioned in the activity or with the commercial supporter of this continuing education activity. Identified conflicts of interest are mitigated by AKH prior to accreditation of the activity. AKH planners and reviewers have no relevant financial relationships to disclose.

‍Disclosure of Unlabeled Use and Investigational Product 
This educational activity may include discussion of uses of agents that are investigational and/or unapproved by the FDA. Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.

‍Disclaimer 
This course is designed solely to provide the healthcare professional with information to assist in his/her practice and professional development and is not to be considered a diagnostic tool to replace professional advice or treatment. The course serves as a general guide to the healthcare professional, and therefore, cannot be considered as giving legal, nursing, medical, or other professional advice in specific cases. AKH Inc. specifically disclaims responsibility for any adverse consequences resulting directly or indirectly from information in the course, for undetected error, or through participants’ misunderstanding of the content. If you would like to opt out of future communications from AKH please send an email to [email protected] with your information with "Opt Out" in the subject line.