Review Provides Insight into Alport Patient and Research Communities
The care of Alport syndrome patients at specific critical junctions — diagnosis, transition to adult care, and pregnancy — is among the topics of a recently published review study.
The review, “The importance of clinician, patient and researcher collaborations in Alport syndrome,” was published in the journal Pediatric Nephrology. The review was based on findings from the 2017 International Workshop on Alport Syndrome in Glasgow, Scotland, where clinical and industry experts, along with Alport patients, came to share their views and perspectives.
Designated as a prelude to that year’s annual conference of the European Society for Paediatric Nephrology, the three-day workshop covered themes essential to a better understanding of Alport syndrome and the development of effective targeted therapies.
Researchers highlighted the need to recognize the diversity of Alport syndrome presentations, and the impact on early diagnosis and treatment. They also noted that careful follow-up of patients, particularly focused on commonly affected functions such as hearing and vision, should take place to prevent incidence or worsening of disease-related complications that might otherwise be manageable.
Despite any knowledge gaps, researchers say that the future of Alport syndrome treatment is bright.
Conducting clinical trials of therapies is a particular challenge, as the rare nature of the disease makes recruiting a challenge and the potential cost of approved therapies high.
Research has revealed molecular details about Alport’s underlying mechanism. These have helped identify new potential therapeutic targets, and suggested that already-existing therapies might have the potential to help manage symptoms. More studies are warranted to further explore these possibilities.
Researchers also point out that while most studies are focused on treating the most common and severe manifestations linked to Alport syndrome — renal impairment and end-stage kidney disease — it is also important to develop strategies to treat other manifestations, such as hearing impairment.
“The collaboration between clinicians, patients and researchers is key to accelerating the current research efforts in order to deliver the unmet needs of patients living with Alport syndrome,” the review states.
Representatives of national patient organizations from Australia, China, France, Germany, Italy, the Netherlands, Spain, the United Kingdom, and the United States were at the workshop.
Together with other members of the Alport community, they discussed the possible creation of an international Alport organization. Such a task would have to overcome several constraints, including significant differences in treatment resources and needs among different countries, as well as differences in cultural attitudes toward disease, privacy, and the physician-patient relationship.
U.K. researchers shared their experience of providing a voice to Alport patients with the Healthtalk project.
It resulted from a collaboration between Alport UK and the University of Oxford, which compiled qualitative research and paved the way for the development of a freely accessible resource on the disease.
“Healthtalk provides a multimedia internet resource on the experiences, information, and support needs of people with different health issues,” researchers said. In addition to Alport, “the site already features 110 different conditions, had more than 6 million visitors in 2018 and is based on more than 4,000 in-depth narrative interviews of people’s experiences of health and illness.”
The section on Alport syndrome was based on information collected from interviews with 38 people with Alport syndrome, their families and partners, and interviews with healthcare professionals.
Patient interviews offer “in-depth knowledge and firsthand experiences” on what it is like to live with the disease, the emotional burden that can accompany Alport, and the clinical course of the disease.
“Although this study was U.K.-based, many of the overall experiences are similar across the world,” researchers said. “In practice, this means that when a person with Alport syndrome looks at any of these summaries, they should find that an experience or perspective akin to their own is included, although this may not necessarily be reported by a person of the same age, family situation or social class as themselves.”