Tag

Sanfilippo Syndrome

All articles tagged with #sanfilippo syndrome

health9 days ago•2 min saved

Kent mother urges wider recognition of childhood dementia after daughter’s rare diagnosis

Emily, a mother from Sevenoaks, is campaigning for greater public awareness of childhood dementia after her two-year-old daughter, Leni, was diagnosed with Sanfilippo Syndrome. The rare genetic disorder causes severe cognitive and motor decline, typically beginning around age three. While no cure exists, Emily hopes Leni can participate in a clinical trial later this year. The MPS Society emphasizes that broader recognition could improve diagnosis speeds, support access, and research funding. The Department of Health and Social Care stated it is working to accelerate diagnoses and improve understanding of neurodegenerative conditions.

via BBC|

#childhood-dementia #clinical-trials #health

health21 days ago•2 min saved

FDA approves first gene therapy for Sanfilippo syndrome, a rare childhood neurodegenerative disease

The FDA approved Ultragenyx’s gene therapy Fayuvi as the first treatment for Sanfilippo syndrome type A, a rare pediatric neurodegenerative disease, with price not disclosed.

via STAT|

#fayuvi #fda-approval #gene-therapy

health5 months ago•44 min saved

Couple terminate pregnancy after unborn baby diagnosed with Sanfilippo syndrome

In London, a family reveals that after their two-year-old daughter Leni was diagnosed with Sanfilippo syndrome (a childhood dementia), in‑utero genetic testing showed their next pregnancy would also be affected. Faced with no cure and a dire prognosis, they chose to terminate the pregnancy and now focus on fundraising and pushing for newborn screening and faster access to potential treatments to help other families facing the condition.

via Daily Mail|

#childhood-dementia #clinical-trial #genetic-testing

health11 months ago•3 min saved

Swansea Boy, 4, Diagnosed with Rare Childhood Dementia

A 4-year-old boy from Swansea diagnosed with Sanfilippo Syndrome, a form of childhood dementia, has inspired a community fundraising effort to help him access clinical trials abroad, as there is currently no cure for his condition. His mother, Tammy McDaid, is focused on making memories and slowing the disease's progression, highlighting the urgent need for awareness and treatment options.

via BBC|

#childhood-dementia #clinical-trials #fundraising

health2 years ago•6 min saved

Desperate Mother's Plea: FDA, Let Me Save My Dying Son

Families of children with Sanfilippo syndrome, a rare genetic condition that causes severe physical and cognitive decline, are urging the U.S. Food and Drug Administration (FDA) to grant accelerated approval to potential treatments. Sanfilippo syndrome has no cure, and many children do not survive past their teenage years. While some treatments have shown promise, the lack of accelerated approval hinders access to these treatments. Families and biotech companies argue that without accelerated approval, funding for research will decline, and progress will be lost. The FDA's Accelerated Approval Program allows for earlier approval of drugs that treat serious conditions and fill an unmet medical need based on surrogate endpoints.

via The Washington Post|

#accelerated-approval #fda #health