Rare Disease Advocacy Groups and Their Significance in Diagnosis, Management, Treatment, and Prevention of Rare Diseases

Bhattacharya, Yashodhara; Iyer, Gayatri; Kamireddy, Aruna Priya; Poornima, Subhadra; Juturu, Keerthi Konda; Hasan, Qurratulain

doi:10.5772/intechopen.88630

Cited by 4 publications

(4 citation statements)

References 17 publications

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“…This highlights the challenges associated with diagnosis and reporting, as few clinicians have experience in managing individuals with RDs. Lack of clinician awareness can lead to significant delays in diagnosis or individuals remaining undiagnosed, creating future RD data deficits [ 53 ].…”

Section: Discussionmentioning

confidence: 99%

Current state of rare disease registries and databases in Australia: a scoping review

Ruseckaite,

Mudunna,

Caruso

et al. 2023

Orphanet J Rare Dis

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Background Rare diseases (RDs) affect approximately 8% of all people or > 400 million people globally. The Australian Government’s National Strategic Action Plan for Rare Diseases has identified the need for a national, coordinated, and systematic approach to the collection and use of RD data, including registries. Rare disease registries (RDRs) are established for epidemiological, quality improvement and research purposes, and they are critical infrastructure for clinical trials. The aim of this scoping review was to review literature on the current state of RDRs in Australia; to describe how they are funded; what data they collect; and their impact on patient outcomes. Methods We conducted a literature search on MEDLINE, EMBASE, CINAHL and PsychINFO databases, in addition to Google Scholar and grey literature. Dissertations, government reports, randomised control trials, conference proceedings, conference posters and meeting abstracts were also included. Articles were excluded if they did not discuss RDs or if they were written in a language other than English. Studies were assessed on demographic and clinical patient characteristics, procedure or treatment type and health-related quality of life captured by RDRs or databases that have been established to date. Results Seventy-four RDRs were identified; 19 were global registries in which Australians participated, 24 were Australian-only registries, 10 were Australia and New Zealand based, and five were Australian jurisdiction-based registries. Sixteen “umbrella” registries collected data on several different conditions, which included some RDs, and thirteen RDRs stored rare cancer-specific information. Most RDRs and databases captured similar types of information related to patient characteristics, comorbidities and other clinical features, procedure or treatment type and health-related quality of life measures. We found considerable heterogeneity among existing RDRs in Australia, especially with regards to data collection, scope and quality of registries, suggesting a national coordinated approach to RDRs is required. Conclusion This scoping review highlights the current state of Australian RDRs, identifying several important gaps and opportunities for improvement through national coordination and increased investment.

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Section: Discussionmentioning

confidence: 99%

Current state of rare disease registries and databases in Australia: a scoping review

Ruseckaite,

Mudunna,

Caruso

et al. 2023

Orphanet J Rare Dis

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“…For instance, diseases such as β-thalassemia are more prevalent in Punjab, Gujarat, West Bengal, Odisha, and Andhra Pradesh, but rare in other states. 22,23 Therefore, they cannot be categorised as rare diseases in these states. Similarly, a house-to-house survey conducted by the Molecular Diagnostics, Counselling, Care, and Research Centre (MDCRC) Coimbatore suggests that Duchenne Muscular Dystrophy is a common illness in Tamil Nadu and cannot be classified as rare.…”

Section: Patient Advocacy Groups In Indiamentioning

confidence: 99%

An update on management of rare diseases in India

Srivastava,

Mohan,

Khatoon

2024

Int J Community Med Public Health

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Rare diseases, characterized by their prevalence in smaller segments of the population, pose significant challenges globally. While definitions may vary across nations based on prevalence rates, these conditions are often life-threatening despite affecting fewer individuals. Genetics play a prominent role, contributing to approximately 80% of rare disorders, with treatments often categorized as ‘orphan drugs’. Regardless of a country's economic status or development level, rare diseases impose substantial burdens on healthcare systems and national economies. In India, rare diseases represent a pressing public health concern, yet they often receive inadequate attention and resources. Factors such as insufficient diagnosis, limited awareness, sparse epidemiological data, high treatment costs, and scant research and development exacerbate the challenges faced by patients and healthcare providers. Despite their significant impact, rare diseases remain a neglected area within the healthcare landscape. The aim of this review was to shed light on the rare disease landscape in India by examining available secondary data from published sources. By comprehensively assessing the existing literature, researchers seek to gain insights into the prevalence, management, and challenges surrounding rare diseases in the Indian context. This endeavor is crucial for informing policymakers, healthcare professionals, and stakeholders about the urgent need for improved strategies and resources to address the complex issues associated with rare diseases in India.

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“…Orphanet and GARD, among others). In addition, they seek to establish new relationships with persons or groups that share the same disease and make contact with established support networks [6,8,9,20,22,25]. Access to support networks and patient associations is easier if there is a diagnosis and is an important element of emotional support, though approximately only half of RDs have patient associations [19,26,27].…”

Section: Introductionmentioning

confidence: 99%

Psychosocial impact at the time of a rare disease diagnosis

Benito-Lozano,

Arias-Merino,

Gómez-Martínez

et al. 2023

PLoS ONE

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Over half of all persons with rare diseases (RDs) in Spain experience diagnostic delay (DD) but little is known about its consequences. This study therefore aimed to analyze the psychological impact of obtaining a diagnosis of an RD, and to ascertain what social determinants are influenced and what the personal consequences are, according to whether or not patients experienced DD. Data were obtained from a purpose-designed form completed by persons registered at the Spanish Rare Diseases Patient Registry. The following were performed: a descriptive analysis; a principal component analysis (PCA); and logistic regressions. Results revealed that while searching for a diagnosis, people who experienced DD were more in need of psychological care than those diagnosed in less than one year (36.2% vs 23.2%; p = 0.002; n = 524). The PCA identified three principal components, i.e., psychological effects, social implications, and functional impact. Reducing DD would improve psychological effects, such as irritability (OR 3.6; 95%CI 1.5–8.5), frustration (OR 3.4; 95%CI 1.7–7.1) and concentration on everyday life (OR 3.3; 95%CI 1.4–7.7). The influence of the social implications and functional repercussions of the disease was greater in persons with DD (scores of 22.4 vs 20 and 10.6 vs 9.4, respectively) in terms of the difficulty in explaining symptoms to close friends and family (3.3 vs 2.9), and loss of independence (3.3 vs 2.9). In conclusion, this is the first study to analyze the psychosocial impact of diagnosis of RDs in Spain and one of few to assess it in the patients themselves, based on data drawn from a purpose-designed form from a national registry open to any RD. People affected by RDs who underwent DD experienced greater psychosocial impact than did those who were diagnosed within the space of one year.

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Rare Disease Advocacy Groups and Their Significance in Diagnosis, Management, Treatment, and Prevention of Rare Diseases

Cited by 4 publications

References 17 publications

Current state of rare disease registries and databases in Australia: a scoping review

Current state of rare disease registries and databases in Australia: a scoping review

An update on management of rare diseases in India

Psychosocial impact at the time of a rare disease diagnosis

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