Kennedy's Disease/Spinal and Bulbar Muscular Atrophy.
Dr. Al La Spada, who discovered the gene mutation that causes Kennedy's Disease, has published the attached summary with frequent updates since 1991. The current, 2022, version contains a wealth of information on diagnosis, disease management, differential diagnoses with related neuromuscular diseases, genetics, and other topics. This is an excellent resource for researchers, clinicians, patients, and families. You can read Dr. La Spada's paper by clicking here.
French Protocol for KD Diagnostics & Management Report
The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations. In the context of an orphan disease, these guidelines provide a reference care pathway for patients with KD both for general practitioners and general neurologist who may be less familiar with the condition. The protocol is based on currently available scientific evidence and provides a consensus statement for the care of KD patients. The multi-centre working group included French specialists and therapists with experience in the diagnosis and management of KD, international experts, and representatives of the French Association for Research in ALS (ARSLA). Contributors for each section were selected based on their clinical expertise in specific aspects of KD. Guideline development was coordinated by the first author and supported by a group of the multidisciplinary working group. The co-authors contributed to specific manuscript sections based on their sub-specialty and clinical expertise. To view and download the report with a summary page, click here.
Kennedy's Disease/SBMA Voice of the Patient Report
This report is based on the “Patient-Focused Drug Development (PFDD)” meeting held at the KDA 2022 conference and related patient input. Voice of the Patient reports are used by the U.S. Food and Drug Administration as an important source of information used to evaluate clinical trial results.
The Kennedy’s Disease Association is very grateful to the patients, caregivers, and carriers who participated in the PFDD at KDA 2022. We also want to thank those who responded to the pre-meeting survey or contributed after the meeting in comments on social media. It is our hope that the KD/SBMA Voice of the Patient report will be read by scientists and generate additional research into the mechanisms of Kennedy’s Disease and, more importantly, into an eventual cure for this devastating disease. To read the report, click here.
