From the Guidelines
The management of Niemann-Pick disease (NPD) should prioritize enzyme replacement therapy, as it has been successfully applied to Niemann-Pick type A/B, alongside supportive care and multidisciplinary team management. According to the most recent guidelines, treatment strategies have been developed for many lysosomal storage diseases (LSDs), including NPD, with enzyme replacement therapy being the most successful approach to date 1. This approach has been applied to various LSDs, including Gaucher disease, Fabry disease, and Niemann-Pick type A/B.
Key aspects of management include:
- Enzyme replacement therapy to address the underlying enzyme deficiency
- Supportive care, such as analgesics for bone pain, antiepileptic medications for seizures, physical therapy to optimize mobility, and nutrition monitoring
- Multidisciplinary team care, including cardiologists, ophthalmologists, neurologists, and orthopedic specialists
- Early initiation of treatment, ideally before the development of symptoms, to optimize clinical outcome 1
It is essential to note that while disease-specific therapies are crucial, ongoing symptomatic and supportive care is also vital to improve the quality of life for individuals with NPD. By combining enzyme replacement therapy with supportive care and multidisciplinary team management, clinicians can provide comprehensive care for patients with NPD, aiming to slow disease progression and improve morbidity, mortality, and quality of life.
From the Research
Management of Niemann-Pick Disease (NPD)
The management of Niemann-Pick disease (NPD) involves:
- Multidisciplinary supportive care 2, 3
- Symptom control and deceleration of disease progression 3
- Surveillance and supportive care for NPD type B 4
- Therapy is mostly supportive, with Miglustat (Zavesca) being the first specific therapy approved for use in NP-C, aimed at stabilizing the rate of progression of neurological manifestation 5
Disease-Directed Treatments
Disease-directed treatments are in development, raising hope that with combination therapy, disease progression will be stalled, and NP-C will become a treatable disease 2
- Miglustat has been shown to decelerate neurological regression 3
- Many other promising drugs are currently being trialled in preclinical models or human studies 3
Diagnostic Investigation Strategy
A simple diagnostic investigation strategy is suggested, including:
- Gene sequencing, metabolic measures, or gene panels and exome sequencing 2
- The NP-C Suspicion Index (SI) screening tool to identify suspected patients with this disease 5
- Biochemical tests involving genetic markers and Filipin staining of skin fibroblast to assist diagnosis 5
- Vertical supranuclear gaze palsy, saccadic eye movement abnormalities, and other neurological manifestations can be used to diagnose NP-C 6