Telomere length elongation ex-vivo in a patient with #dyskeratosiscongenita? #DC Presentation by Dr. Kasiana Myers #ASH22 1/n
Utilizing ZSCAN4 - a protein that enhances genome stability and regulates telomere elongation in EXG-001 -- a non-integrating temperature-sensitive non-transmissible Sendai virus vector. #ASH22 @KMyersBMT 2/n
@KMyersBMT ZSCAN4 is transiently (but critically) expressed during meiosis and embryonic stem cells. EXG-34217 is the non temp sensitive product we are talking about here. Hope to enroll 12 subjects! No chemo or radiation, an autologous infusion. #teamtelomere #ASH22 3/n
@KMyersBMT Important to include this knowledge (see slide) as you think about this -- especially in these patients with cancer predisposition. This makes it hard to know engraftment of treated vs untreated cells though bc its gone from the body due to temp in a few days. #ASH22 4/n Image
@KMyersBMT Challenging collection but successful using Plerixafor and GCSF and were able to return just under 1x10^6 treated cells. They have 9 months of follow-up since infusion in pt 1 in Feb 2022. Telomere length normalized! #ASH22 5/n ImageImage
@KMyersBMT Conclusions here - safety shown in this one patient so far. There was an expected post drop in with elongation at the 6 month mark. They are still enrolling #teamtelomere #ASH22 6/6 Image
@KMyersBMT @KMyersBMT comments on the ability to re-dose (not on this protocol so far but maybe) and there is no exclusion for 'bone marrow failure' on the study but there is exclusion for those that don't mobilize well (not enough collected and this patient had great counts). #ASH22

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More from @DrTiffanyL

Dec 13
Two oral abstracts on the #STELLAR study (Sickle Cell Transplant Evaluation of Long-term and Late Effects Registry) presented by Dr. Sobenna George (hi!) and Dr. Lillian Meacham #ASH22 1/n
What's the problem? You can get DOR = diminished ovarian reserve or POI = primary ovarian insufficiency (early menopause). This is SUCH a good explanation!! #ASH22 2/n ImageImage
Small numbers but such great data, 30 females and 18 males, about 4-6 years post therapy (myeloablative transplants (mostly matched sib) and one each with gene tx) #ASH22 3/n
Read 7 tweets
Dec 13
How many patients are on disease modifying treatments for #SCD - data from 2014-2021 presented by Dr. Terri Newman. @ash22 1/n
We're talking about #Hydroxyurea and in 2017, expanded use of #HU as well as L-glutamine and then in 2019 #voxelotor and #crizanlizumab. #ASH22 2/n
They looked at 5022 patients with Rx of DMTs. Those on DMTs were surprisingly mostly in the 18-45 group (the box is wrong on the screenshot) and mostly male and had more VOCs. #ASH22 3/n Image
Read 5 tweets
Dec 13
Management of pregnant women with #SCD in high income countries with Dr. Eugene Oteng-Ntim (with the cutest intro from Dr. Eugenia Asare). Writing down the #pearls here so I can share with my patients for their future and so I can advocate for them. #ASH22 1/n
As we know, more low/not detectable AMH levels in women with #SCD. Know that preimplantation diagnosis and successful transfer is possible with data to support that. And many want #NIPT secondary to fear of amnio or CVS, which can be done. (w/ @nonacus) #ASH22 2/n
What risks are we talking about in sickle cell disease and pregnancy? 1/4 of the patients in their cohort required transfusion during pregnancy and RR of preeclampsia is 2.43 and 3x risk of SGA, 4x risk of stillbirth. #ASH22 3/n Image
Read 5 tweets
Dec 13
Dr. Mark Fleming talking about pathology vs molecular testing in MDS. He first reminds us the difference of childhood MDS from adult MDS -- and these WHO guidelines, childhood MDS is only classified into these two subtypes. #ASH22 1/n Image
The issue is that the "dysplasia" definition has been defined by the cytogenetic abnormalities and genotypes of adult MDS so the criteria for blast %age, extent of dysplasia -- but does this apply?? #ASH22 2/n
MDS in pediatric patients is more normo or hypocellular than hypercellular. There is not ringed sideroblasts in persons <30 and he also reminds us that there are a number of baseline dysplasias in germline BMF pts that are mistaken for MDS! #ASH22 3/n
Read 7 tweets
Dec 13
#ASH22 Bone marrow failure syndromes: diagnostic principles in 2022. Starting with Sara Lewis, a genetic counselor in hematology. Follow this tweet for more. 1/n
Sara reminds us that she feels patients think more about their family history as they see her draw the pedigree. Time for me to start doing this! #phodocs #ASH22 #pearl 2/n
Here are the options for diagnostic workup - genetic tests can be done from somatic genes or germline! #ASH22 3/n ImageImageImage
Read 6 tweets
Dec 13
@bhwords Dr. Beverley Hunt presenting on #COVID19 and #thrombosis. She wants to chronologically review the battles we have fought! #ASH22 1/n
@bhwords This story (clinical presentation) -- a reminder of the patients from the front lines in the beginning and what some docs went through! #COVID19 #ASH22 2/n Image
@bhwords #COVID19 is the 'perfect suit for VTE' ... inflammation, sticky blood, vessel wall changes. The amazingly high levels of fibrinogen (14g/L! (normal is 2-4g/L)) D-dimers reported on a log scale because of the significant increase. #ASH22 3/n
Read 12 tweets

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