Easing the burden of rare diseases

WHEN TAKEN collectively, rare diseases are not that rare at all. At the moment, there are about 7,000 diseases that are considered “rare” because they each affect less than 200,000 people in one particular group or country.

For example, cystic fibrosis is an inherited disorder caused by a gene mutation. It causes the body to produce thick sticky mucus that clogs the lungs and blocks the pancreas, causing severe damage to the lungs, digestive system, and other organs in the body.

Cystic fibrosis is just one of the thousands of rare diseases. About 80% of rare diseases have identified genetic origins while others are the result of bacterial or viral infections, allergies, and environmental causes, or are degenerative and proliferative. About 50% of rare diseases affect children. While rare diseases encompass a diverse range of disorders and symptoms, all are invariably debilitating, progressively degenerative, and may be life threatening. The lack of scientific knowledge and quality information on rare diseases often delays diagnosis. And the fact that there are often no existing cures for many of the rare diseases adds to the pain and suffering endured by patients and their families.

In the Philippines, the Department of Health ( DoH) considers a disease rare when it affects one patient in every 20,000 people in the country. Most often, people with rare diseases may have significantly reduced quality of life and are often dependent on other people to attend to their basic needs. They also need lifelong medical care, medications, and multidisciplinary therapies to alleviate the symptoms and effects of the disease.

Signed into law in March 2016, Republic Act 10747 mandates the government to develop a comprehensive policy to address the needs of Filipinos with rare diseases. Also known as the Rare Diseases Act, the law aims to improve rare disease patients’ access to comprehensive medical care; set up a Rare Disease Registry to inform policy making, identify interventions, and design research studies on rare diseases; and promote public awareness on rare diseases, among others. Notably, the law designates persons with rare diseases as persons with disabilities.

In 2017, the DoH in partnership with the University of the Philippines- National Institutes of Health held the 1st Philippine Rare Disease Symposium where they committed to create a system for the identification, management, and registration of persons with rare diseases, including an effective referral system for enhanced access to support, treatment, and information. They will also form a technical group to identify the necessary treatments and services, and to ultimately incorporate these in the medical assistance programs and PhilHealth benefits package provided by the government. The DoH also committed to develop the expertise of local health care professionals in diagnosing, treating, and managing patients with rare diseases.

Despite numerous challenges due to the complexities of rare diseases, biopharmaceutical companies have committed to enhance scientific understanding and find potential therapies to ease the burden of patients and their families.

At present, there are more than 560 medicines in development for patients with rare diseases, according to a report by the Pharmaceutical Research and Manufacturers of America (PhRMA).

Medicines currently in development include the following: • 151 for rare cancers and 82 for rare blood cancers;

• 148 for genetic disorders, including cystic fibrosis and spinal muscular atrophy; • 38 for neurological disorders, including amyotrophic lateral sclerosis and seizures; • 31 for infectious diseases, including rare bacterial infections and hepatitis; and, • 25 for autoimmune diseases, including systemic sclerosis and juvenile arthritis.

The PhRMA report said that there remain scientific and medical gaps in knowledge regarding the natural history of rare diseases. “The underlying biology of the disease may be very complex and poorly understood, and research to fill in the gaps can be difficult and timeconsuming given the small numbers of people with the rare disease. Continued research and improved understanding of rare diseases will accelerate the development of medicines for rare diseases,” the report added.

TEODORO B. PADILLA is the executive director of Pharmaceutical and Healthcare Association of the Philippines (PHAP). Medicine Cabinet is a weekly PHAP column that aims to promote awareness on public health and health carerelated issues. PHAP and its member companies represent the research-based pharmaceutical and health care industry.