Understanding patient and parent/caregiver perceptions on gene therapy in Gaucher disease: an international survey.

BACKGROUND: Gaucher disease is a rare, autosomal recessive genetic disorder. It is caused by a lack of sufficient activity of the lysosomal enzyme known as glucocerebrosidase, which leads to an accumulation of glucocerebroside, a fatty substance, in the spleen, liver, bone marrow, and rarely, the lungs or central nervous system. While there are several treatments available for people with Type 1 Gaucher disease and the visceral aspects of Type 3 Gaucher disease, no cure is present for any type of Gaucher disease. Clinical trials are currently underway to investigate the safety and efficacy of gene therapy in Gaucher disease, which has the potential to become a new type of (curative) treatment in the future. Gene therapy is a relatively new therapeutic approach, and with the desire to keep the community informed about new treatment developments, the International Gaucher Alliance (IGA) set-up a Gaucher disease specific survey to gauge current perceptions. The survey aimed to benchmark understanding of, and the educational needs surrounding, gene therapy among the Gaucher disease community. BODY: An international, online survey was developed, comprising twelve questions ranging from multiple choice, Likert scale, single tick-box, ranking and open questions. The survey was developed following three patient and caregiver focus groups and underwent review from members of the IGA for readability and accuracy before going live to respondents. The survey was available for two months and shared to audiences via specific Gaucher community channels. CONCLUSION: Over 100 patients and parents/caregivers from the Gaucher disease community completed the survey, including people living with Type 1 Gaucher disease (52.88%), people living with Type 3 Gaucher disease (3.85%), parents/caregivers of people living with Type 1, 2 or 3 Gaucher disease (39.42%), and other (3.85%) who were defined as parents of multiple people with Gaucher disease. The survey uncovered various commonalities in perception of gene therapy among all groups, with large knowledge gaps identified on the mode of action, the usefulness of gene therapy and overall understanding of the therapeutic area. This survey provides an overview of the type of information that could be valuable to the Gaucher disease community when developing educational materials.

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

BACKGROUND: Several scales have been developed in the past two decades to evaluate Niemann-Pick disease Type C (NPC) severity in clinical practice and trials. However, a lack of clarity concerning which scale to use in each setting is preventing the use of standardised assessments across the world, resulting in incomparable data sets and clinical trial outcome measures. This study aimed to establish agreed approaches for the use of NPC severity scales in clinical practice and research. METHODS: A Delphi method of consensus development was used, comprising three survey rounds. In Round 1, participants were asked nine multiple-choice and open-ended questions to gather opinions on the six severity scales and domains. In Rounds 2 and 3, questions aimed to gain consensus on the opinions revealed in Round 1 using a typical Likert scale. RESULTS: Nineteen experts, active in NPC paediatric and adult research and treatment, participated in this study. Of these, 16/19 completed Rounds 1 and 2 and 19/19 completed Round 3. Consensus (defined as ≥ 70% agreement or neutrality, given the study aim to identify the severity scales that the clinical community would accept for international consistency) was achieved for 66.7% of the multiple-choice questions in Round 2 and 83% of the multiple-choice questions in Round 3. Consensus was almost reached (68%) on the use of the 5-domain NPCCSS scale as the first choice in clinical practice. Consensus was reached (74%) for the 17-domain NPCCSS scale as the first choice in clinical trial settings, but the domains measured in the 5-domain scale should be prioritised as the primary endpoints. Experts called for educational and training materials on how to apply the NPCCSS (17- and 5-domains) for clinicians working in NPC. CONCLUSIONS: In achieving a consensus on the use of the 17-domain NPCCSS scale as the first choice for assessing clinical severity of NPC in clinical trial settings but prioritising the domains in the 5-domain NPCCSS scale for routine clinical practice, this study can help to inform future discussion around the use of the existing NPC clinical severity scales. For routine clinical practice, the study helps provide clarity on which scale is favoured by a significant proportion of a representative body of experts, in this case, the 5-domain NPCCSS scale.