PATIENT REGISTRY
Once the development of a therapy or cure for ADLD has advanced far enough to start a clinical trial, it will be essential to have as much clinical data as possible from all ADLD patients. This will allow for quick identification of eligible patients as well as discovery of quantifiable clinical outcome measures, or in other words, metrics based upon which physicians will know if the treatment or cure is working. Without quantifiable clinical outcome measures, improvement in patient condition cannot be measured, which causes a trial to be postponed until this data is available.
We are in the process of setting up an ADLD Patient Registry in partnership with the University of Pittsburgh. In its initial stages, the Registry will be a valuable resource for insights into disease characteristics such as symptoms, progress, and prognosis. It will also demonstrate to pharmaceutical companies that there is sufficient centralized demand to justify their investment towards manufacturing a drug.
Over time, the Patient Registry will be a centralized resource that is vital to helping researchers learn more about ADLD, accelerating the development of new research and treatments, identifying issues that require additional research, and improving the care of all patients who are affected by ADLD.
The Patient Registry will comply with the Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule to safeguard all patients´ information.
A link to the registry will be made available here once it is up and running.
CLINICIAN RESOURCES
Information on ADLD symptoms, the latest research findings, as well as access to all published literature about ADLD and topics relevant to various aspects of ADLD.
A review focusing on clinical symptoms, management, and diagnosis (Nahhas et al, 2016 in: GeneReviews).
The summary available on Orphanet, a European reference portal for information on rare diseases and orphan drugs.
An extensive list of symptoms is available at Genetic and Rare Diseases Information Center (GARD) of the National Institutes of Health (NIH).
An overview of genetic tests for ADLD and a list of the institutes where they are available can be found at the Genetic Testing Registry (GTR).