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Table 3 Responses to statement included in Round 2 (16 respondents)

From: International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study

Question Round 2
Agree/neutral Disagree
1. A single, standardised NPC clinical severity scale that can be used in routine clinical practice as well as clinical research on a global scale is desirable 81% (13) 19% (3)
2. A single, standardised NPC clinical severity scale that can be used in routine clinical practice as well as clinical research on a global scale is achievable within the scope of existing scales 75% (10) 25% (6)
3. A clinical consensus paper recommending which NPC clinical severity scale to use per different clinical setting (comprising routine practice and trial research) would be valuable to the international clinical and patient community 100% (16) 0% (0)
4. Assessment across the following 5-domains, provides an accurate clinical understanding of NPC severity: Ambulation, Cognition, Fine motor, Speech, Swallowing 87% (14) 13% (2)
5. If only one existing NPC severity scale was to be used for the evaluation of disease in normal clinical practice internationally, I would recommend the 5-domain NPCCSS scale 81% (13) 19% (3)
6. It is essential to measure all 17-domains in the NPCCSS during a clinical trial to capture all potential treatment benefits for people living with NPC 69% (9) 31% (7)
7. It is sufficient to measure the 5-domains in the 2018 NPCCSS during a clinical trial to capture relevant potential treatment benefits for people living with NPC 75% (10) 25% (6)
8. I believe the 5-domain NPCCSS scale satisfies requirements for use in all clinical settings, to standardise assessments on a global scale 69% (9) 31% (3)
9. I believe it is feasible and there is a need to develop a new NPC clinical severity scale that satisfies requirements for use in all clinical settings, to standardise assessments on a global scale 31% (7) 69% (9)
10. If a new universal NPC clinical severity scale were to be developed, the most important way that it would differ from existing scales would be… Summary of key insights:
To balance breadth with brevity and usability
To focus on domains where change can be expected with disease progression or therapy
To evaluate cognition at different ages
To include quality of life measures
To determine the impact of epilepsy
To incorporate video of the performance of patients during the 9HPT and 8-min walk test
To include age/subtypes-dependant items (e.g. epilepsy and cataplexy in late infantile-juvenile, psychiatry in adolescent-adult…)
Based on the largest possible source data from natural history cohorts as well as clinical trials and take into account that NPC manifests and progresses differently across age groups and patient populations
Used across regions, languages and cultures
11. What would be your recommendations to implement a more uniform approach to the use of NPC clinical severity scales? Summary of key insights:
To publish a systematic review of the current scales and consensus
To publish an expert consensus on which scale is preferred for clinical routine practice and which for trials
To develop detailed SOPs and training on the use of severity scales
To select a simple scale that can be used in different setting and is sensitive enough to capture the impact of the disease in the NPC patient
To add QoL measures to 5-domain NPCCSS
To gain insights from the community on what matters to patients and carers
To provide patients with score sheets, a booklet or app, to complete regularly and which they present to their doctors at every appointment
To include clinical scale biochemical markers and neuroimaging
To evolve clinical scales with available data and distinct uses (e.g. in a specific NPC sub-population, or to track changes in a specific subject), particularly as personalised medicine is a goal of this decade
To capture real-world results of scales systematically (e.g. INPDR) so that pre/post treatment effect are comparable
  1. Numbers highlighted in bold indicate questions/statements for which consensus was achieved (greater than or equal to 70% agreement of neutrality)