Pledge to

Tell the FDA that I want Neurodegenerative Lysosomal Storage Diseases to be 1 of the 20 diseases inc

This pledge closed almost 4 years ago

How this will help

JJB, along with our sister organizations representing lysosomal storage diseases that affect the brain, such as Sanfilippo, are asking for your support. As many of you may recall, JJB was instrumental in adding specific language to PDUFA V. This was due to our grassroots call to action. The action that many of you followed through on!

The Food and Drug Administration (FDA) is making steps to follow through on their new requirements. They are calling on the community to give suggestions for their Patient Focus Drug Development initiative. The FDA will be focusing on 20 diseases, for which they will help develop treatments. Of course we want our group of neuro-LSD's to be included. Below is a stock letter to be cut and pasted to the form found here:!submitComment;D=FDA-2012-N-0967-0001

1. Write a brief intro add to our text below.
2. Save as doc or pdf
3. Submit your letter here, by Nov. 1st.!submitComment;D=FDA-2012-N-0967-0001
4. Give yourself a hug from us.

-Intro Here-
I recommend adding Lysosomal Storage Disorders (LSD) with Neurological Manifestation, to the list of nominated disease areas for the patient-focused drug development initiative and the criteria used for nomination, the initiative that is being conducted to meet the requirements enacted by PDUFA V.

I'm recommending this group of LSD's because it cuts across multiple conditions represented in the preliminary list, groups together several diseases with similar physical manifestations, fits the criteria requested for additional disease area selection, and is poised for near-term treatment success.

Neuro-LSD's include over 45 diseases, 40 which affect children, and are universally fatal. Our group of Neuro-LSD's share many similar challenges; a breakthrough in one of our diseases often opens similar lines of exploration in the remaining diseases.

Currently, nearly all of the diseases nominated have approved treatments. Meanwhile there is not a single approved treatment that effectively addresses the 45 different Neuro-LSD's. Our community finds the preliminary list egregious at best, and we hope you will consider the group of Neuro-LSD's for the patient focused drug development initiative.

Lysosomal Storage Diseases fits all of the criteria requested for additional disease areas.

1.LSDs are chronic, symptomatic, and have a devastating effect on the functions and activities of daily lives of the affected child and their families. Neurological effects include multiple types of seizures, ataxia, myoclonus, dystonia, tremors, chorea and spasticity. Many children affected by these disease regress to such a state that they require 100% care. They are unable walk, talk or eat via mouth.

2.LSDs with similar and identical gene defects exhibits a range of severity and age of onset. Some patients are affected at birth and range to include adult onset forms of these diseases.

3.A previous lack of natural history studies, high resolution clinical endpoints, and biomarkers resulted in aspects of the disease not previously captured in clinical trials. Many of the Neuro-LSD groups are developing global initiatives to address these needs.

4.Neuro-LSD's disproportionately affect the pediatric population. In most of these cases the disease is terminal.

LSD's may not represent a broad range in terms of size of the affected population, however, as a group, they do represent the most common inherited, pediatric, neurodegenerative disease group in the world.

Recent developments in regenerative medicine, gene therapy, enzyme replacement, and drug discovery, are resulting in first-in-man studies for multiple forms Lysosomal Storage Diseases. Investing in drug development that focuses on common mechanisms in the pathogenesis of multiple diseases, could result in benefit for thousands of patients with rare and common illnesses.

Again, I implore you to add, Lysosomal Storage Disorders with neurological manifestations, to this list!

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