[CIS PIDD] [cis-pidd] ADA SCID tx
Infante, Anthony J
INFANTEA at uthscsa.edu
Mon Jul 14 13:45:28 EDT 2014
Newborn screening has clearly changed the psychosocial impact of SCIDS in my experience. Previously, most patients were desperately ill at diagnosis, parents knew something was seriously wrong, and were relieved to get a diagnosis. Now, baby looks perfectly well and parents are devastated to hear their child has a fatal disorder. Perhaps there is literature on other conditions which have been screened in newborns for a long time.
Tony Infante
-----Original Message-----
From: Perez, Elena [mailto:e.perez13 at med.miami.edu]
Sent: Sunday, July 13, 2014 9:37 AM
To: CIS-PIDD
Subject: RE: [cis-pidd] ADA SCID tx
Thanks Gigi and Paul. Very helpful. We discussed on Friday and also decided to hold off a little longer on ADA. Will keep you posted.
It was tough at the very beginning with this NBS identified baby to decide ADA vs imminent tx...he had some respiratory distress at presentation but no infection (detectable) and I wondered whether ADA would have corrected that (having read mice studies about ada and lung issues)... But we decided to go to tx asap, and support him through it (only ever needed NC O2) and he got better eventually on antibiotics (so maybe it was infection?). Now he is doing great except that he had pyloric stenosis on top of it, this was surgically corrected and now he's eating like crazy.
On the side, I wonder if anyone yet has looked into the effects of NBS on post partum depression...mom of baby is having a very tough time.
Thank you again for your support!
Elena
________________________________________
From: Notarangelo, Luigi [Luigi.Notarangelo at childrens.harvard.edu]
Sent: Sunday, July 13, 2014 10:02 AM
To: CIS-PIDD
Subject: Re: [cis-pidd] ADA SCID tx
Agree with Paul! Also, you may want to have lineage specific chimerism data.
Gigi
Luigi D. Notarangelo
Professor of Pediatrics and Pathology, Harvard Medical School Jeffrey Modell Chair of Pediatric Immunology Research Division of Immunology, Children¹s Hospital Boston Karp Research Building, Room 10217
1 Blackfan Circle
Boston, MA 02115
tel: +1-(617)-919-2277
FAX: +1-(617)-730-0709
On 7/13/14 8:58 AM, "Szabolcs, Paul" <paul.szabolcs at chp.edu> wrote:
>Elena
>
>The data is not that hopeless with these details. A second donor search
>can be initiated but this graft is not lost yet. I would follow now Q2
>weeks chimerism and holding ADA at least till next dataset is
>worthwhile indeed.
>Best, Paul
>
>On 7/12/14, 9:09 AM, "Sokolic, Robert (NIH/NHGRI) [E]"
><sokolicr at mail.nih.gov> wrote:
>
>>Elena-
>> I agree with what the others have said in terms of withdrawal of
>>immunosuppression. Would then start PEG-ADA. Rather than going to
>>haplo or another cord, I would advise looking for a MUD, b/c the child
>>should be stable after a 3-4 months on PEG. This is assuming that a
>>MUD is less toxic than a haplo as done by your transplanters You
>>could try withholding the PEG while immunosuppression is withdrawn to
>>give an added advantage to the donor cells.
>>Rob
>>
>>
>>
>>From: Perez, Elena [e.perez13 at med.miami.edu]
>>Sent: Friday, July 11, 2014 12:26 PM
>>To: CIS-PIDD
>>Subject: RE: [cis-pidd] ADA SCID tx
>>
>>Jack and Cary- I double checked, on stem cell processing lab sheet and
>>TNC/kg=1.69x10^8 is listed, so previous email was a typo taken from
>>EMR chart. Today chimerism is back: Unseparated 6.7%; T lymph 5.47%; B
>>lymph 8.82%; grans 2.72%, 40d post tx. Also match was 6/6 (there was a
>>mismatch at C locus so BMT coordinator called it a "7/8").
>>Summary of chimerism:
>> unsep T B gran
>>20d 2.75 0 2.6 1.6
>>30d 5.77 insuff insuff 3.56
>>40d 6.7 5.47 8.82 2.72
>>
>>Baby is stable, room air, feeding.
>>Looking into PEG-ADA; discussing with transplanters here the next
>>steps...
>>Appreciate all the comments/suggestions.
>>
>>Thanks again!
>>Elena
>>
>>Elena E. Perez, M.D.,Ph.D.
>>Associate Professor
>>Chief, Pediatric Allergy and Immunology Jeffrey Modell Diagnostic and
>>Research Center for Primary Immunodeficiencies Division of Immunology
>>and Infectious Diseases Batchelor Children's Research Institute, Suite
>>316 University of Miami Miller School of Medicine
>>1580 NW 10th Avenue
>>Miami, FL 33136
>>
>>Office: 305-243-4863
>>Nurse (Maria Rodriguez) 305-243-9514
>>FAX: 305-243-7409
>>Email: e.perez13 at med.miami.edu
>>
>>
>>The information contained in this transmission may contain privileged
>>and confidential information, including patient information protected
>>by federal and state privacy laws. It is intended only for use of the
>>person(s) named above. If you are not the intended recipient, please
>>contact the sender by reply email and destroy all copies of the
>>original message.
>>
>>-----Original Message-----
>>From: Bleesing, Jacob [mailto:Jack.Bleesing at cchmc.org]
>>Sent: Thursday, July 10, 2014 9:28 AM
>>To: CIS-PIDD
>>Subject: RE: [cis-pidd] ADA SCID tx
>>
>>Elena:
>>
>>Are you sure about the cell dose that you shared with us?
>>
>>Jack
>>
>>________________________________________
>>From: Perez, Elena [e.perez13 at med.miami.edu]
>>Sent: Thursday, July 10, 2014 9:10 AM
>>To: CIS-PIDD
>>Subject: RE: [cis-pidd] ADA SCID tx
>>
>>Thanks for all the comments so far. I will pass them along. He has
>>been off of cyclosporine for a couple of weeks and results of next
>>chimerism (whole blood and lineage specific) are due today. I believe
>>that match was 8/8 but will double check. Will keep you posted & thanks again.
>>Elena
>>
>>
>>-----Original Message-----
>>From: Szabolcs, Paul [mailto:paul.szabolcs at chp.edu]
>>Sent: Thursday, July 10, 2014 8:32 AM
>>To: CIS-PIDD
>>Subject: Re: [cis-pidd] ADA SCID tx
>>
>>Agree with Gigi that withdrawal of Imm Supp drugs is your last hope
>>but if the repeat chimerism is falling below 5% it is going to be hopeless.
>>I have never seen clinically significant GVHD in this setting ( n:
>>5-7) but the chances are very poor that it will work being so close to UCBT.
>>If You were at 100days or beyond with 5% donor cells you may have a
>>bit more likely graft survival but even that would be against the odds
>>
>>I doubt that ADA SCID could engraft with Bu doses <12
>>
>>Best wishes, Paul
>>
>>
>>Paul Szabolcs, M.D.
>>
>>Professor of Pediatrics and Immunology University of Pittsburgh School
>>of Medicine Chief, Division of Blood and Marrow Transplantation and
>>Cellular Therapies, Children's Hospital of Pittsburgh of UPMC
>>http://www.chp.edu/CHP/bmt
>>
>>One Children's Hospital Drive
>>4401 Penn Avenue, Rangos, Room 5125
>>Pittsburgh, PA 15224
>>Phone: 412-692-6225
>>Fax: 412 692-7816
>>LR page: 412 958-6985
>>E-mail: paul.szabolcs at chp.edu
>>
>>
>>Confidentiality notice: This email contains confidential information
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>>
>>
>>
>>
>>
>>
>>
>>On 7/9/14, 10:04 PM, "Notarangelo, Luigi"
>><Luigi.Notarangelo at childrens.harvard.edu> wrote:
>>
>>>Dear Elena,
>>>
>>>I assume chimerism is on total blood, correct? What is T cell count now?
>>>Can you do lineage specific chimerism? What immunosuppression? (You
>>>may consider reducing it to favor donor cells, although risk of GvHD
>>>would still be there). I see no advantage in rushing toward haplo.
>>>Lastly, did you adjust Bu exposure?
>>>
>>>Gigi
>>>
>>>Sent from my iPad
>>>
>>>Luigi D. Notarangelo, MD
>>>Jeffrey Modell Chair of Pediatric Immunology Research Division of
>>>Immunology, Boston Children's Hospital Professor of Pediatrics and
>>>Pathology, Harvard Medical School Karp Research Building, Room 10217
>>>1, Blackfan Circle Boston, MA 02115 USA
>>>
>>>Tel: 617-919-2277
>>>FAX: 617-730-0709
>>>
>>>> On Jul 9, 2014, at 9:55 PM, "Perez, Elena"
>>>><e.perez13 at med.miami.edu>
>>>>wrote:
>>>>
>>>> Dear "transplant-for-Primary Immunodeficiency" community:
>>>>
>>>> We have a 2mo boy with ADA deficiency picked up on NBS who received
>>>>an HLA matched umbilical cord transplant on DOL45 after being
>>>>conditioned with 50% dose reduced Busulphan, Fludarabine and ATG and
>>>>rituximab, which was well tolerated. Stem Cell Dose: 16.7 x 10e5
>>>>CD34 pos cells/kg;
>>>>1.69 x 10e7 TNC/kg.
>>>>
>>>> Early evaluation of peripheral cell genotype unfortunately revealed
>>>>mixed chimerism of 3% donor suggestive of primary graft failure. His
>>>>most recent chimerism revealed 5% donor, and the transplanters are
>>>>planning to send another one this week before deciding about
>>>>retransplant. Today is +41d post transplant.
>>>>
>>>> In anticipation of need for retransplant, I offered to post his
>>>>case on the list serve for feedback to our transplanters. They are
>>>>considering retransplant with umbilical cord blood but hesitant to
>>>>redose chemo vs maternal haplo but clinimacs cell purification IND
>>>>is not available here.
>>>>
>>>> He is infection free but has developed seizures that are controlled
>>>>on Keppra. He is maintained on IVIG and all the usual prophylaxis
>>>>and so far has remained free of detectable infections, except on
>>>>presentation required oxygen which has improved to room air.
>>>>
>>>> He is on medicaid with very limited family resources, which makes
>>>>it difficult to transfer care out of state.
>>>>
>>>> Feedback from transplanters in the group appreciated, and will
>>>>share with transplanters here.
>>>>
>>>> thank you,
>>>> Elena Perez
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