Comment from Cure MAPT FTD
AnonymousSupportAdvocacy
Summary: Cure MAPT FTD, an advocacy organization, supports the draft guidance to develop individualized therapies for genetic conditions. They argue that a reworked framework for rare disease research is necessary to ensure patients with specific mutations can access emerging gene-editing technologies and life-saving treatments.
For untold generations, my husband's family has suffered through generations of a rare genetic disease, Frontotemporal Dementia caused by a mutation of the MAPT gene. This tauopathy dementia strikes you in the prime of your life, in your 40s and 50s, with families suffering through the consequences of dramatic loss of income, insurance, oftentimes legal issues, all eventually resulting in an early death. My husband, a beloved high school American history teacher, died at 58. And yet, because the MAPT gene is used in much Alzheimer's research, there are beginning to be signs of hope for a gene-modifying therapy. However, the way the current system works, unless trial design allows a small subset for our mutation carriers, or there is no expanded labeling, or we aren't able to access the emerging CRISPR gene editing technology, we won't be able to take advantage of these emerging breakthroughs. Having a reworked framework, as this Draft Guidance recommends, for rare disease research, would save millions of American lives, not just for MAPT-related FTD but for hundreds of rare diseases. Cure MAPT FTD stands in solid support of this new recommended guidance.