[Research promotion by a patient organization : The example of PRO RETINA and it's research foundation]. / Forschungsförderung durch eine Patientenorganisation : Das Beispiel der PRO RETINA und ihrer Stiftung.

This article illustrates the development, framework conditions and results of research promotion by the patient self-help organization PRO RETINA Deutschland e. V. and its foundation, with a special focus on patient participation. Instruments of research promotion applied by the patient organization included the articulation and clarification of research needs, cooperation with research institutes on a project level, accompanying of research programs in advisory boards, public acknowledgement of successful researchers, support of patient recruitment for studies, biomaterial banks and registers. As examples for the initiated and supported research work, the isolation of the choroideremia gene, the development of a retinal implant and cooperation on Usher syndrome are described. In 2007 PRO RETINA established its own research foundation as a closely linked but independent organization. This foundation financially supported 52 projects (including PhD grants and small projects), 19 research awards and 3 foundation professorships, with a main focus on the support and encouragement of young scientists. Nowadays, apart from success in research promotion, patient participation also covers drug approval procedures, benefit assessment and decisions on regulations in medical care. The work of PRO RETINA and its foundation demonstrates the potential of self-help organizations for initiation, acceleration and support of patient-oriented medical research.

[Development of disease-specific patient groups within Pro Retina]. / Entwicklung diagnosespezifischer Gruppen in der Pro Retina.

The formation, development and external impact of the following eight disease-specific patient groups with rare forms of retinal degeneration (RRD) within the patient organization Pro Retina are described: Gyrate Atrophy, Bardet-Biedl Syndrome (BBS), Adult Refsum's Disease, Usher Syndrome, Rod-Cone Dystrophy, Leber's Congenital Amaurosis, Choroideremia and Stargardt Disease/juvenile macular degeneration. Within the project sponsored by the German Ministry of Health (BMG) approaches of patient self-help for an adequate organization and interaction with the professional medical care system were supported, analyzed and documented. In syndromic RRD a relatively high proportion of patients are organized in patient groups (Refsum's disease 25%, BBS 14%, Usher Syndrome 8%). Patients with syndromic RRD are more highly motivated to contribute to self-help work than patients with non-syndromic RRD. At the same time, these patients are more dependent on the support from their relatives and on technical aids. The following tendencies in the development of RRD groups were observed: increasing focus on one patient organization (PRO RETINA Deutschland, Self-Help Organisation of People with Retinal Degenerations) all RRD groups in Pro Retina grew; RRD groups became increasingly independent within Pro Retina; external activities of the groups showed considerable increase. Stable work relationships with scientific and medical care institutions have been established. The example of RRD demonstrates how rare and isolated patients receive basic coping support by self-help groups, how they deal with resources in a collective way and how they can interact with the medical care system.

[Patient participation in medical care, taking rare retinal degenerations as examples]. / Patientenselbsthilfe und seltene Erkrankungen. Mitgestaltung der Versorgungsrealität am Beispiel seltener Netzhautdegenerationen.

Eight rare retinal degenerations were chosen to exemplify self-organisation and involvement of patient self-help groups in medical care. They were studied and supported in their development on the following levels: disease-specific groups (level 1), patient organisations (level 2), umbrella organisation (level 3). Databases of defined needs and concerns ("Themenspeicher") of disease-specific patient groups and of patient organisations with respect to care, research and patient networking were established. Priority concerns were implemented in the following areas: specialised medical care; quality assurance; quality management; expert panel with international dialogue of patients and physicians (including consensus statement on treatment recommendations); glossary internet portal; criteria for patient-oriented disease descriptions; structured documentation of patient experiences; patient management of health care records (paper bound and electronic health records). Apart from disease- specific approaches, interdisciplinary disease approaches were also applied, e.g. by contributing to the establishment of the German Alliance for Rare Diseases (ACHSE). This umbrella organisation has substantially improved chances for cooperation and patient advocacy. Patient participation was promoted by a federal regulation in 2004 ("Patientenbeteiligungsverordnung"). The example of rare retinal degenerations demonstrates the advantage of strong patient and umbrella organisations. Further development of qualified self-help resources is required for patient participation in rare diseases.