Tackling rare diseases requires a well-planned strategy. The Center is kick-starting a new clinical project as part of an international coordinated effort to bringing together physicians, researchers and families with FD. The study will help us understand which treatments lead to real improvements for patients.
The FD Natural History Project is designed to collect clinical information from patients with FD overtime and observe the course of their disease. Well-organized natural history studies are very important for rare disease research.
The Center has a long history of caring for patients with FD. Dr. Felicia Axelrod began the first electronic database for patients with FD in 2002. That source of information has led to a number of important discoveries about the disease. It is still used on a daily basis to answer pressing medical questions. But it needs an overhaul.
The new natural history study will build on this existing knowledge and continue to follow patients with FD by collecting their clinical information. The project will unite specialists in FD care from around the globe to capture information from all patients with FD regardless of where they live in a standardized way. All information is made anonymous and details that can identify the patient themselves are removed.
It’s really simple, explained Dr. Norcliffe-Kaufmann, Principal Investigator for the project. When patients come to an FD clinic, they grant permission for us to take information from their clinical records. We collect this information to follow the function of each patient’s lungs, heart, kidneys, eyes, gut, sleep patterns and bone formation. The natural history study will enable us to display this information in real time. By putting together the data set from all patients with FD, we can evaluate which treatments we use in the clinic actually improve survival and quality of life at different stages of the disease.
The FD Natural History Study will partner with Dr. Susan Slaughenhaupt at MGH and the team will work with PTC Therapeutics. Patients are asked to give us a small sample of blood for the David Brenner Bio-Repository. This will be used to look at the FD genome and how the protein is expressed, which will ultimately help in the quest to find potential genetic treatments.
However, in order for any therapy to succeed, we must first know what are our benchmarks for success and how best to any measure improvement, explained Dr. Kaufmann.
This is easier than it sounds. The search for “biomarkers” is a hot topic in research right now and the chase is on. The Dysautonomia Foundation and The Michael J Fox Foundation support the Center’s Eye Lab, dedicated to following neurodegenerative changes in the retina. Patients in the FD natural history study will have their retina scans stored in the database archives, so that can be retrieved and compared year-to-year. Dr. Carlos Mendoza, a investigator in the project explained, “These patients have a progressive optic neuropathy. It is this death of cells in the retina that robs them of their ability to see.” The Center’s goal is to stop patients with FD from going blind. Each year patients have their retina closely scrutinized as part of their clinical care. As Dr. Mendoza explained “I see the retina as a window to follow cell loss and a target for therapy. The eye gives us a great insight into the effectiveness of any drug designed to alter the course of the disease”.
Dr. Alberto Palma will lead the quest to better understand sleep in FD and look at the impact of therapies like CPAP or BiPAP. As he explained, “Sleep is an important issue for patients with FD and we have an urgent need to understand this better. Following patients overtime and carefully documenting their sleep patterns should help us treat sleep disordered breathing to improve the quality of life in FD and avoid related problems”.
Dr. Shay Bess will review spine scans and follow the progression of the scoliosis in FD. Centralized reading is a first step to understanding a disease and the impact of therapies.
The Worldwide Natural History Study of FD is an important project at the Center. Sharing your clinical information when you have a disease as rare as FD will help you and others, as it will lay the foundations for other scientific projects and help bring new therapies to the clinic. The FD natural history study is an important way to unite people, and speed up progress in medical care.
Patients who participate in the project will not need to undergo any additional test at their annual visits. The donation for blood for the bio-repository is optional. All data is anonymous. For more details on the study, please contact the Center at: 212-263-7225.