[CIS PIDD] [cis-pidd] HSCT experience in prolidase deficiency?

Sun Jan 25 22:07:54 EST 2015

Hi, I am interested in hearing the responses too. I follow one patient with prolidase deficiency who is in her late 20s and does reasonably well with the exception of poor wound healing in her legs-some liver dysfunction, spleen removed due to thrombocytopenia, mild pulmonary HTN-but on the prolidase deficiency spectrum, more mild.  But I followed very briefly an Amish boy with a severe course who died in childhood. His cousin had been transplanted-is this the one you are referring to? Last I heard, this one was doing ok-didn't correct everything, but was alive at a significantly older age than his cousins with this. If this isn't the one you have heard of, I can try and track down more information for you.
I have a collaborator at NIH who has been doing some research on this disease, although we have limited specimens as only the one living patient.  But happy to email more involving that person to brainstorm ideas as there are a few I have considered.  Otherwise, I have focused mainly on wound care and more symptomatic therapy, but would love to have some more definitive treatments.
Would love to hear more about your patient too-It is hard managing such a rare complicated disease as my experience is limited with my current cohort of one!
Thanks, Alexandra

Alexandra Freeman MD
Staff Clinician
LCID/NIAID/NIH

On Jan 25, 2015, at 6:08 PM, "Carsten Speckmann" <carsten.speckmann at uniklinik-freiburg.de<mailto:carsten.speckmann at uniklinik-freiburg.de>> wrote:

Dear all,

some of you may have received this request already via the IEWP mailing list.
So far the feedback was limited, but maybe some of you have experience with this rare disorder?

We are seeing a 4y/o boy with a very severe course of prolidase deficiency - a rare connective tissue disorder.

I wonder about the HSCT experience for this disease within the CIS community.

In literature there is one reported HSCT case (Caselli et al) with promising initial results, but the patient deceased around d+100 from infectious complications.
I have recently heard about one successfully treated pt (still awaiting more details).

Gene therapy or enzyme replacement therapy has been discussed in literature, but (to my knowledge) is not available at present.
I wonder whether  HSCT might be a considerable option in severely affected  patients. Any center experience with this?

Thanks a lot, best wishes Carsten Speckmann

--
Dr. Carsten Speckmann
Pediatrician
Group Leader: Benign lymphoproliferative disorders
Pediatric Hematology and Oncology
and Center for Chronic Immunodeficiency
University of Freiburg
Germany
phone: +49 (0)761 270 43010
fax: +49 (0)761 270 45990
www.uniklinik-freiburg.de/cci/studien/alps.html<http://www.uniklinik-freiburg.de/cci/studien/alps.html>

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