Patient Journey Prior to the Diagnosis of Niemann-Pick Disease Type C
Moderator
Arunima Sachdev, MA, Optum, Gurgaon, India
Speakers
Ankita Misra, MPH, MS; Sudhanshu Chawla; Mahainn Somani, Other; Abhimanyu Roy, MBA, Optum, Gurgaon, India; Ruchi Singhal, PhD, Optum Global Solution, Gurgaon, India; Riddhi Markan, BA, MSc, OPTUM Global Solutions, Gurugram, India; Vikash K Verma, MBA, PharmD, Optum Lifesciences, Boston, MA, United States; Abhinav Nayyar, Optum Life Sciences, Gurugram, India; Marissa Seligman; Louis Brooks Jr; Rahul Goyal
OBJECTIVES: Niemann-Pick disease type C (NPC) is a rare disorder caused by NPC1 and NPC2 gene mutations. It is characterized by a wide range of clinical presentations and variable age of onset, making the diagnosis challenging. This study aims to describe the patient journey leading up to the initial suspected NPC diagnosis.
METHODS: Optum’s de-identified Market Clarity database from Jan 2016 through Jun 2024 were used to identify patients with suspected NPC. First observed claim or EHR record for NPC (ICD-10: E75.242) was considered as the index date. The required criteria for continuous enrollment or clinical activity prior to the index date were as follows: ≥60 months for patients aged ≥6 years, ≥12 months for patients aged 2-5 years, ≥1 month for patients aged 1 year, and no defined criteria for patients aged ≤1 year. Outcomes were descriptively evaluated including symptoms, diagnosis and treatment patterns. Additionally, we utilized NLP to analyze clinical notes for symptoms, diagnostic tests and other relevant clinical information.
RESULTS: A total of 70 patients (65.7% adults (≥16 years), 20% children (≤5 years)) were identified. Adults had higher neuro-psychiatric symptoms as motor fluctuations (41.3% vs. ~20% (n=<5)), cognitive impairment (30.4% vs. 0%), depression (26.1% vs. 0%), compared to children. Visceral symptoms including hepatosplenomegaly were more prevalent among Infants (35.7%) and juveniles (20.7%) compared to adults (10.9%). Median time from earliest symptom to index diagnosis was 320 days (IQR: 213.5-355.8) in adult patients. Other lysosomal storage disorders (LSD) such as Gaucher disease (34.3%), and DM1 gangliosides (10.0%) were observed. Genetic evaluations were seen in 13% patients only, and symptomatic treatment was observed.
CONCLUSIONS: Patients exhibited a wide range of symptoms varying with age at diagnosis, and were frequently diagnosed with other LSDs indicate potential misdiagnoses. Further research is essential to enhance the timely and accurate identification of NPC.
METHODS: Optum’s de-identified Market Clarity database from Jan 2016 through Jun 2024 were used to identify patients with suspected NPC. First observed claim or EHR record for NPC (ICD-10: E75.242) was considered as the index date. The required criteria for continuous enrollment or clinical activity prior to the index date were as follows: ≥60 months for patients aged ≥6 years, ≥12 months for patients aged 2-5 years, ≥1 month for patients aged 1 year, and no defined criteria for patients aged ≤1 year. Outcomes were descriptively evaluated including symptoms, diagnosis and treatment patterns. Additionally, we utilized NLP to analyze clinical notes for symptoms, diagnostic tests and other relevant clinical information.
RESULTS: A total of 70 patients (65.7% adults (≥16 years), 20% children (≤5 years)) were identified. Adults had higher neuro-psychiatric symptoms as motor fluctuations (41.3% vs. ~20% (n=<5)), cognitive impairment (30.4% vs. 0%), depression (26.1% vs. 0%), compared to children. Visceral symptoms including hepatosplenomegaly were more prevalent among Infants (35.7%) and juveniles (20.7%) compared to adults (10.9%). Median time from earliest symptom to index diagnosis was 320 days (IQR: 213.5-355.8) in adult patients. Other lysosomal storage disorders (LSD) such as Gaucher disease (34.3%), and DM1 gangliosides (10.0%) were observed. Genetic evaluations were seen in 13% patients only, and symptomatic treatment was observed.
CONCLUSIONS: Patients exhibited a wide range of symptoms varying with age at diagnosis, and were frequently diagnosed with other LSDs indicate potential misdiagnoses. Further research is essential to enhance the timely and accurate identification of NPC.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
CO5
Topic
Clinical Outcomes
Topic Subcategory
Clinical Outcomes Assessment, Clinician Reported Outcomes
Disease
SDC: Rare & Orphan Diseases