Скачать или смотреть Unmet Medical Needs in Rare Diseases

Tobias Hagedorn, Secretary of the European Society for PKU (ESPKU), discusses unmet medical needs in rare disease communities.

Phenylketonuria (PKU) is a genetic metabolic disorder that increases the body's levels of phenylalanine, a natural amino acid present in many foods. People with PKU cannot properly break down the extra phenylalanine to convert it to tyrosine. This means phenylalanine builds up in the person's blood, urine, and body. Without treatment, children with classic PKU develop permanent intellectual disability. Light skin and hair, seizures, developmental delays, behavioral problems, and psychiatric disorders are also common. In most cases, PKU is caused by genetic changes in the PAH gene.

The ESPKU has recently published a report developed by over 20 patient representatives and clinical experts describing the unmet medical needs in PKU and emphasizing the importance of looking beyond clinical criteria to fully understand the lived reality of patients. This report was in response to an initial Commission proposal and Parliamentary definitions of unmet medical needs.

Due to differences in rare diseases from more common ones, defining such conditions under the same criteria can have large impacts on rare disease patients. Criteria in the new definition will change how diseases are categorized, incentives to innovation, and allocation of funding.

As noted by Mr. Hagedorn, small patient populations greatly disadvantage rare disease research and development funding. Therefore, focusing on only clinical criteria such as morbidity and mortality, will cause stagnation in the innovation of rare disease care. This is exemplified in PKU, where clinical morbidity is low but impact on quality of life and caregiver burden is high. However, by the new definitions, this disease will essentially be labeled as “solved” when profound unmet needs still exist.

Chapters:
Introduction 00:00
PKU Overview 00:16
Patient Advocacy and Healthcare Legislation 1:51
Unmet Needs in PKU 7:01
Political Definitions of Unmet Needs 14:33
Joint Policy Paper 16:58