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Gaucher community meets with FDA
2021-10-11 12:00:00

On Thursday 9th September, members of the type 2 and 3 (known as neuronopathic) Gaucher community, led by the Gaucher Community Alliance (GCA), addressed the United States Food and Drug Administration (FDA) to educate the regulators on the impact of living with neuronopathic Gaucher disease.


Cyndi Frank, co-founder and co-president of the GCA, opened the 90-minute session by introducing the GCA. She was followed by Dr Ozlem Goker-Alpan who described the disease, its heterogeneity and unmet needs in terms of no treatments to address the neurological manifestations of the condition, and the challenges in its management. This was followed by three families who shared their personal stories of diagnosis, management and the impact of day to day living. The three families represented children, teenagers (almost) and a young adults all with different manifestations highlighting the spectrum of the disease.


Later, Tanya Collin-Histed, CEO of the International Gaucher Alliance (IGA) presented on the new patient reported global registry, GARDIAN, that will be launched later in the year, to capture the impact of the disease on patients and caregivers in a systematic manner to improve understanding and management and develop better treatments.


In the final presentation Aviva Rosenberg, co-founder and co-president of the GCA, made three asks of the FDA:


  1. ERT is approved for only Type 1; by not having approval for nGD, this places another burden on families because it must be prescribed off label. This causes additional insurance hurdles and denial or alternatively incorrect medical record diagnosis to ensure the child receives ERT.
  2. Approve access to Ambroxol in the US, by funding studies. Currently, patient families have to find people in Europe to send treatment to them on a regular basis so that they can treat their children with the only thing so far that can cross the blood-brain-barrier to treat nGD.
  3. Fast track gene therapy trials and continue to push gene therapy trials forward to give more options to the nGD community


The GCA hope that this is just the beginning of a dialogue with the FDA in pursuit of new treatments for nGD, thus improving the quality of lives of patients and their families.


The full listening session report can be found here.