Everything you should know (and Do) about Rare Diseases

The biotechnology company Sobi, dedicated to developing innovative treatments for people suffering from rare diseases, has made available a document titled “33 Proposals to Improve Care, Support, and Quality of Life for Patients with Rare Diseases” (see the link to the document at the end of this article). 
 
The 33 proposals highlight the need to update the National Rare Diseases Strategy, promote the humanization of care and support, improve access to medications, and increase investment. 
 
The document calls for updating the National Rare Diseases Strategy with specific measures, such as: strengthening Primary Care to address rare diseases; resolving the financial challenges of patient referrals between autonomous communities; tackling the diagnostic odyssey, which can take up to ten years; developing the National Rare Diseases Registry; and addressing delays and inequalities in access to pharmacological treatments. 
 
It also proposes humanizing care for people with rare diseases through measures involving patients, their associations, and healthcare professionals. To this end, it suggests an organizational and management model that enhances healthcare professionals’ knowledge and skills through continuous training and humanistic education, as well as improving their communication and emotional management abilities. 
 
Additionally, it calls for the effective participation and involvement of patient associations and their families in decision-making processes. On a broader level, it advocates for the establishment of humanization protocols and, more specifically, an increase in human resources to improve the functioning of healthcare centers and institutions, along with the inclusion of clinical psychologists and social workers in care teams. 
 
On another note, the commercialization and reimbursement of orphan drugs in Spain typically take an average of two years. Similarly, more than 50% of the drugs authorized by the European Medicines Agency (EMA) have not been incorporated into the service portfolio. To address this issue, the document emphasizes the need to adhere to the 180-day reference period, improve coordination among regional and hospital pharmacy and therapeutics committees to avoid drug reevaluations, establish common evidence criteria, enhance regulation of orphan drug funding, and create special financing procedures. 
 
Regarding research, it is considered a fundamental pillar. The document calls for an increase in investment from 1.2% to 2% of GDP, a return to pre-pandemic levels of clinical trials, and a stronger role for scientific societies. 
 
In terms of funding for orphan drugs, proposed measures include centralized purchasing, payment based on outcomes, and greater flexibility in regulations governing public-private collaboration. It also identifies potential funding sources such as the NextGenerationEU program, the Recovery, Transformation, and Resilience Plan, the Cohesion Fund, as well as the allocation of a specific budget and a multi-year investment plan for rare diseases. 
 
Finally, from a legislative perspective, addressing the deficiencies that create inequities among people with rare diseases requires harmonizing the criteria of various regional regulations and amending laws such as the Dependency Law, the Biomedical Research Law, or supporting global policies like the Pharmaceutical Strategy for Europe, the Digital Health Strategy, or the Pact for Science. 
 
You can download and read the document at this link:  https://sobi.es/sites/default/files/informe-humanizacion_eerr_sobi.pdf
 

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