Rare Diseases Research: Clinical Trial for Niemann-Pick Type C

www.einstein.y... - Determined to find a treatment for children with the degenerative brain disease Niemann-Pick Type C, Steven Walkley, D.V.M., Ph.D., turned a serendipitous laboratory discovery into a successful national research collaboration with other academic institutions and the National Center for Advancing Translational Sciences' program for rare diseases (Therapeutics for Rare and Neglected Diseases). These efforts led to an NIH Phase 1 clinical trial testing cyclodextrin
as a therapy for children with this disease. Dr. Walkley is a professor in the Dominick P. Purpura Department of Neuroscience and director of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center at Albert Einstein College of Medicine.

[@marcierichie5644]

I had never heard of Nieman Pick before watching a Turkish tv series, Kizim, which was based on a Korean series, My Fair Lady. I was shocked to learn of this devastating condition. Thanks to all the dedicated people working on changing the outcome for all the affected children and their families.

[@bobbytra1]

Amazing people doing amazing things. As a good friend of one family involved in these trials and this work, I just want to say how proud I am of you people. Go from strength to strength.

[@elnabjelland-hughes8172]

Cyclodextrin does work to parents started this whole business with the cyclodextrin their name is Mr. and Mrs. Hemphill they have two daughters who are getting this treatment and have been getting this treatment long before this study was done and they’re doing well

[@debbiejansen1178]

Are they doing well?

[@misterB2231]

@@debbiejansen1178 the twins died on July 4th 2019

[@смиренный-х2б]

I haven't heard anything about them since the news they were going to have it injected into their spinal cords.

[@drzoranostojic5155]

Great doctor and great man - Dr Dominic Purpura!!!

[@katekleinsteuber7652]

What a terrible disease.

[@misterB2231]

yes it is

[@quaziloko]

My sister had this. Took years to diagnose. Very sad to not know what's going on. Hope anyone with a family member finds out sooner so they get the support they need.

[@atiqamalhi8730]

Is your sister fine now?

[@mikekosloc4712]

@@atiqamalhi8730 the disease is always fatal...

[@atiqamalhi8730]

@@mikekosloc4712 yeah...my nephew died in october last year😥🥺

[@mikekosloc4712]

@@atiqamalhi8730 sorry to hear. It's a scary disease

[@captainrahil2446]

My son also surviving with Nieman pick dieses AB please guide any treatment is there ?

[@mialavendertarot4051]

Go to Dr Robert morse ASAP.

[@asifhussain2555]

My two kids 1 ur old and 3 yrs old diagnosed with NPC , o don’t know what to do . Some doctors are suggesting liver transplant

[@salehahazara5903]

Unfortunately my baby have Npc

[@chinnakarri]

My baby is Niemann pick type c any help please 🙏

[@rjhenderson2031]

Are you sure his body isn't just react to muslt

[@salmankarimpour8561]

Does anyone know if there is a certain treatment for it? my niece got this disorder and we still dont hear a proper response

[@ramia.ballout3307]

+Salman Karimpour There are unfortunately no curative treatments yet... there is miglustat (used in europe but the FDA hasn't approved it yet), but its not curative...it just delays things a bit...

[@mauradiaz6467]

Im so sorry its a termanal disease theres no cure

[@mialavendertarot4051]

Go to Dr Robert morse ASAP

[@trishstevenson3022]

Stop using animals

[@ioannisproteus7286]

Get serious stupid

[@ManishKumar-xx7ny]

what else are we to use? humans??