Atlantic Health System also offers clinical trials for conditions including: phenylketonuria, infantile neuroaxonal dystrophy
, fragile X Syndrome and lysosomal storage disorders such as Fabry disease, Gaucher disease, mucopolysaccharidoses, Pompe disease and Niemann-Pick Disease.
MFSD8###Neuronal Ceroid Lipofuscinosis-7###PLA2G6###Infantile Neuroaxonal Dystrophy
Grace Herschelman, 7-year-old Montgomery County resident was diagnosed with infantile neuroaxonal dystrophy
in November 2014 when she was just 3 years old.
Some of the NBIA disorders include aceruloplasminemia, fatty acid hydroxylase-associated neurodegeneration, infantile neuroaxonal dystrophy
, Kufor-Rakeb syndrome, neuroaxonal dystrophy
Pope Benedict also blessed 18-month-old Alexander Frame, who has an incurable genetic disorder called neuroaxonal dystrophy
New topics include infantile neuroaxonal dystrophy
, neuronal migration disorders, meningococcal vaccines, pneumococcal meningitis, rivastigmine, Pervasive Developmental Disorders, and TORCH Disorders.
The work, supported by the children's medical research charity WellChild, has also uncovered a genetic mutation, which causes Infantile Neuroaxonal Dystrophy
that slowly degenerates the nerves throughout a child's body and ultimately results in death.
He is suffering from rare condition called neuroaxonal dystrophy
for which there is no cure.