Amicus now has exclusive worldwide rights to Penn's next generation gene therapy technologies for a majority of lysosomal disorders
and 12 additional rare diseases, including Rett Syndrome, Angelman Syndrome, Myotonic Dystrophy and select other muscular dystrophies.
Amicus Therapeutics and the Perelman School of Medicine at the University of Pennsylvania announced a major expansion to their collaboration with rights to pursue collaborative research and development of novel gene therapies for lysosomal disorders
and 12 additional rare diseases.
Electrophysiological studies to reveal peripheral neuropathy and a search for leucocyte enzyme abnormalities should take place in diagnostic work-up if lysosomal disorders
are suspected (5, 7).
All this is because of inter-family marriages, they said mentioning that Lysosomal disorders
affect 1 in 10,000 infants at birth.
The authors have successfully targeted 11 different lysosomal disorders
that have very similar clinical presentations and are virtually indistinguishable in the first few months of life, when a diagnostic evaluation is likely to take place.
Miscellaneous lysosomal disorders
. In: Graham DI, Lantos PL, eds.
So, that's another thing that's kind of coming, I would say, in the next five to seven years, so that every newborn would get screening for some of these lysosomal disorders
. We're working on it from several different angles.
Although individually rare, collectively lysosomal disorders
affect 1 in 10,000 infants at birth, in Pakistan their frequency is expected to be higher due to consanguineous marriages in many communities.
Clinical laboratories that measure lysosomal enzyme activities typically use sonicates or detergent extracts of mixed leukocyte pellets for enzymologic studies of lysosomal disorders
. The use of peripheral blood leukocytes for this purpose has the merit of using a readily accessible tissue that, in addition, has considerable concentrations of most lysosomal enzymes.
There are more than 40 lysosomal disorders
, and although individually rare, they are collectively a significant group of disorders with life-altering manifestations not only for patients but with equally devastating effects for their families (1).
Until recently, there has been minimal therapeutic intervention available to alter the natural course of the disorders, but with the recent availability of commercial preparations of recombinant enzymes, selective lysosomal disorders
are now amenable to therapeutic intervention (7-9).
Screening for lysosomal disorders
. In: Hommes FA, ed.