The Quality of Rare Disease Registries: Evaluation and Characterization

2016 ◽  
Vol 19 (2) ◽  
pp. 108-115 ◽  
Author(s):  
Alessio Coi ◽  
Michele Santoro ◽  
Ana Villaverde-Hueso ◽  
Michele Lipucci Di Paola ◽  
Sabina Gainotti ◽  
...  
Keyword(s):  
Rare Disease ◽  
Disease Registries

scholarly journals Neutral theory: applicability and neutrality of using generic health-related quality of life tools in diseases or conditions where specific tools are available

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ravi Jandhyala
Keyword(s):  
Rare Disease ◽  
Neutral Theory ◽  
Health Related Quality ◽  
Poor Hrqol ◽  
Sf 36 ◽  
Disease Condition ◽  
Related Quality ◽  
Health Related ◽  
Sensitivity Specificity

Abstract Background Health-related quality of life (HRQoL) tools are limited by the indicators included in the construct and variation in interpretation by different researchers. Neutral Theory describes the ideal construct that includes all relevant indicators and, therefore, complete accuracy, or neutrality. Neutral Theory can thereby provide the framework to develop or test constructs. To assess the application of Neutral Theory, the neutrality of generic tools (SF-36 and EQ-5D) at measuring HRQoL was compared to disease/condition-specific tools, with the latter considered surrogates for the Neutral construct. Methods Full descriptions of all disease/condition-specific HRQoL tools published on PubMed (to 01-Jul-19) were sourced. For each tool, the number of items with and without a direct match within the SF-36 and EQ-5D was recorded and the sensitivity/specificity calculated. Results The SF-36 and EQ-5D did not achieve a sensitivity/specificity both > 50% against any of the 163 disease/condition-specific tools identified. At 20% prevalence of poor HRQoL, the false positive rate (FPR) was > 75% for all but two tools against the SF-36 and six tools against the EQ-5D. Increasing poor HRQoL to 80%, 47 tools for the SF-36 and 48 tools for the EQ-5D had a FPR < 50%. For rare disease tools (< 1/2000 population; n = 17), sensitivity/specificity ranged from 0 to 40%/5–31% for the SF-36 and 0–22%/29–100% for the EQ-5D. For non-rare (n = 75) and symptom-specific tools (n = 71) sensitivity/specificity was: 0–100%/0–100% (SF-36) and 0–50%/0–100% (EQ-5D); and 0–60%/0–19% (SF-36) and 0–25%/0–100% (EQ-5D), respectively. No concordance was recorded for 18% (2/11) of results from studies of rare disease tools versus the SF-36 (no data vs EQ-5D). For non-rare, disease-specific tools, results were discordant for 30% (25/84) and 35% (23/65) of studies against the SF-36 and EQ-5D, respectively. For symptom-specific tools, corresponding results were 36% (24/66) and 16% (5/31). Conclusions Generic HRQoL tools appear poorly correlated with disease/condition-specific tools, which indicates that adoption of Neutral Theory in the development and assessment of HRQoL tools could improve their relevance, accuracy, and utility in economic evaluations of health interventions.

Rare Disease Registries Classification and Characterization: A Data Mining Approach

2015 ◽  
Vol 18 (2) ◽  
pp. 113-122 ◽  
Author(s):  
Michele Santoro ◽  
Alessio Coi ◽  
Michele Lipucci Di Paola ◽  
Anna Maria Bianucci ◽  
Sabina Gainotti ◽  
...  
Keyword(s):  
Data Mining ◽  
Rare Disease ◽  
Data Mining Approach ◽  
Disease Registries

scholarly journals Utility of Rare Disease Registries in Latin America

2011 ◽  
pp. 111-115 ◽  
Author(s):  
Ana Maria Martins ◽  
Marcelo Kerstenezky ◽  
Adriana Linares ◽  
Juan Politei ◽  
Regina Kohan ◽  
...  
Keyword(s):  
Latin America ◽  
Rare Disease ◽  
Disease Registries

The Current Situation and Needs of Rare Disease Registries in Europe

2013 ◽  
Vol 16 (6) ◽  
pp. 288-298 ◽  
Author(s):  
D. Taruscio ◽  
S. Gainotti ◽  
E. Mollo ◽  
L. Vittozzi ◽  
F. Bianchi ◽  
...  
Keyword(s):  
Rare Disease ◽  
Current Situation ◽  
Disease Registries

C1 Esterase Inhibitor (Human) for the Treatment of Acute Hereditary Angioedema

2011 ◽  
Vol 4 ◽  
pp. CMBD.S4090 ◽  
Author(s):  
Solange Oliveira Rodrigues Valle ◽  
Alfeu Tavares França ◽  
Regis A. Campos ◽  
Anete Sevciovic Grumach
Keyword(s):  
Quality Of Life ◽  
Rare Disease ◽  
Hereditary Angioedema ◽  
C1 Esterase Inhibitor ◽  
Genetic Deficiency ◽  
Life Threatening ◽  
Patients Experience ◽  
Tremendous Impact ◽  
Esterase Inhibitor

Hereditary angioedema (HAE) is a relatively rare disease characterized by acute episodes of swelling. These swellings can be disfiguring, painful and life-threatening. Since the symptoms occur in different areas and most patients experience a delay in their diagnosis, resulting in unnecessary suffering and dangerous situations. HAE can have a tremendous impact on the quality of life. The major genetic deficiency in this disorder is either an absent or nonfunctional C1INH which regulates the complement, fibrinolitic, kalikrein and plasmin pathways.

Evolving observational registries: an evidence based approach to understanding data availability in the "Sanofi Genzyme Rare Disease Registries"

2017 ◽  
Vol 120 (1-2) ◽  
pp. S43
Author(s):  
Danielle Dong ◽  
Julie Batista ◽  
Katherine Belk ◽  
Marta Cizmarik ◽  
Cinde Clatterbuck ◽  
...  
Keyword(s):  
Rare Disease ◽  
Data Availability ◽  
Evidence Based ◽  
Disease Registries

scholarly journals Health-related Quality of Life and Health Literacy in Patients With Systemic Mastocytosis and Mast Cell Activation Syndrome

2021 ◽  
Author(s):  
Tobias Jürgen Schmidt ◽  
Julia Sellin ◽  
Gerhard J. Molderings ◽  
Rupert Conrad ◽  
Martin Muecke
Keyword(s):  
Quality Of Life ◽  
Rare Disease ◽  
Cell Activation ◽  
Systemic Mastocytosis ◽  
Mast Cell Activation ◽  
Control Group ◽  
Related Quality ◽  
Health Related ◽  
Unclear Etiology

Abstract Background: Systemic mastocytosis is a rare genetic disease characterized by aberrant proliferation and/or activation of mast cells, resulting in multi-organ, allergy-like symptoms. Mast cell activation syndrome (MCAS) is a clinically similar, but more prevalent disease with unclear etiology. In this study, the health-related quality of life (HRQOL) and health literacy of people suffering from SM and MCAS were assessed. Results: Two validated questionnaires (QLQ-C30 / QLQ-INFO25) from the European Organisation for Research and Treatment of Cancer (EORTC) were used to analyze HRQOL and level of information of SM and MCAS patients. In addition, a control group without any health issues was included. Data were analyzed by ANOVA and linear regression to detect significant differences. Questionnaire data from 66 patients with MCAS (83% female, mean 44 years), 32 patients with SM (78% female, mean 53 years) and 52 healthy participants (67% female, mean 48 years) resident in Germany were analyzed. HRQOL as measured by the Global health status was significantly worse in patients suffering from MCAS or SM compared to control group. Individuals with MCAS showed a slightly, but insignificantly lower score on Global health status, and a significantly lower score with respect to role function and fatigue. Patients with the rare disease SM felt significantly better informed on their disease compared to MCAS patients. Linear regression performed separately for both groups showed a direct influence of the level of information on patients' HRQOL.Conclusion: Overall, our study showed a significant negative impact on the HRQOL of both diseases, but only a small difference in quality of life and severity of symptoms between patients with MCAS and the supposedly more severe form, the rare disease SM. Our results demonstrate that the level of information patients receive impacts HRQOL, and that this is not only an issue in rare disease, but also diseases with unclear etiology and pathology. Our data shows that even slight improvements in the patient's level of information can have a positive effect on their quality of life, further highlighting the importance of gaining more knowledge on rare and incompletely understood diseases and communicating these insights to patients.

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