Enhancing management of rare diseases
The fourth week of February each year is National Rare Disease Week. The annual observance aims to increase public awareness about rare diseases (also called “orphan disorders”) and advocate for responsive policies and enhanced medical management.
Rare diseases are those that affect a small number of people compared to the general population; their rarity creates specific and difficult challenges in diagnosis and treatment, among others. The Department of Health (DoH), upon the recommendation of the National Institutes of Health (NIH), categorizes a disease or disorder as rare when it affects one in 20,000 individuals or less.
Despite their special needs, children affected with rare diseases experience social isolation due to inadequate support networks resulting from lack of information and awareness about orphan disorders.
To help address these challenges, Republic Act 10747, or the Rare Diseases Act of the Philippines, was enacted in 2016. The law aims to enhance access of patients with rare diseases to comprehensive medical care and timely health information to help them cope with their condition. It underscored the urgent need to conduct a national information campaign to create awareness among health professionals about the nature and medical management of rare diseases. It also seeks to instill awareness among the public about rare diseases to generate full support for the special needs of children affected by rare disease from both public and private sectors.
The Act mandated the creation of the Rare Disease Registry, which is being utilized to formulate policies, identify program interventions, and design research to address the needs of patients with rare diseases. In line with the law, the DoH has integrated public information and screening campaigns in its programs to identify persons afflicted with rare diseases and help the public understand the special needs of such persons. One such DoH program is the Newborn Screening Program (NBS), an essential public health strategy that enables the early detection and management of several congenital metabolic disorders. If left untreated, such disorders may lead to mental retardation and/or death. Newborn screening is done ideally in the first 24 hours of life but not later than three days after an infant is born.
The law also mandates the provision of regulatory and fiscal incentives to support research and development studies on rare diseases and to facilitate the manufacture and importation of orphan drugs and orphan products.
Rare diseases pose a unique challenge to patients, their families, societies, healthcare professionals, and healthcare systems. They require “orphan drugs,” or drugs that are uniquely developed to target rare conditions. But developing orphan drugs to treat rare diseases is a risky and complex undertaking for the innovative pharmaceutical industry since the number of rare diseases patients are small and widely dispersed. Because there are not enough clinical centers or sufficient expertise, major logistical and regulatory issues exist.
Despite these challenges, the biopharmaceutical industry has more than 700 medicines in development, targeting many known rare diseases. Biopharmaceutical companies consider rare diseases not in isolation but as a significant factor in health policy frameworks. We believe the needs of patients living with rare diseases are a public health priority. As such, patients must be empowered by access to information, patient-reported outcome registries, and active participation in regulatory decisions. Continued research and development into rare diseases is essential, along with an enabling environment, including a supportive regulatory and intellectual property (IP) framework. Finally, sustainable patient access to diagnostics, treatment, and care is vital.
Several significant events in the global policy agenda have helped to give more momentum to rare diseases, such as the UN 2030 Agenda and Sustainable Development Goals (SDGs) and the drive towards universal health coverage (both of which are centered around the idea of leaving no-one behind), as well as the recent establishment of the NGO Committee for Rare Diseases.
Despite such advancements, many countries do not have tailored policy frameworks today and therefore still have large unmet medical needs. A supportive policy environment is therefore necessary to foster greater understanding of these diseases and how they impact patients, stimulate more research, encourage appropriate disease management, all while empowering patients and their wider communities.
The biopharmaceutical industry remains a key sector in responding to the challenge of improving care for patients with rare diseases.
TEODORO B. PADILLA is the executive director of Pharmaceutical and Healthcare Association of the Philippines (PHAP). PHAP represents the biopharmaceutical medicines and vaccines industry in the country. Its members are in the forefront of research and development efforts for COVID-19 and other diseases that affect Filipinos.