mom/ child neurologist / neuromuscular / gene therapy šŖš»š§ @childrensphila. Philadelphia, PA. All opinions are my own.
Philadelphia, PA
Joined March 2020
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Wish I were in person at #WMS2024 but so thankful @WorldMuscleSoc provides a high quality and affordable virtual option. Grateful to be able to learn without having to travel and leave my young children.
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Proud to collaborate on this piece led by @oabdulhamid and @pandaneuro. Decision to pursue Elevidys treatment requires individualized detailed counseling and consideration of potential risks / benefits given unknowns. sciencedirect.com/science/arā¦
Super proud to share our collaboration w/the Clinic for Special Children on early dual treatment in SMA. All 2 copy children, despite early tx, developed ultrasound changes. Dual tx was safe, additional data on efficacy needed. onlinelibrary.wiley.com/doi/ā¦
What a great first day at #ASCGT2024, and had the chance to speak about the implementation of approved #genetherapy. Awesome to share the stage with my #cigt colleague @DrSamelsonJones who spoke about #AAV clinical trials. So proud of what we are building @ChildrensPhila.
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Seeing this after a full day of #SMA clinic hurts my heart. My early treated pts are running and jumping. Itās unacceptable to deny tx. #zolgensma works & time is motor neurons. How dare an insurance company deny a lifesaving treatment for these sweet babies. @DGlaucomflecken
Before #GeneTherapy, SMA was the most common monogenic cause of infant mortality.
#ASGCT @suzmatMD
Insurance Denies Newborn Twins Life-Saving Treatment for Fatal Genetic Disorder: 'Hard to Cope' people.com/insurance-denies-ā¦ via @people
(1/3) This 1000%. We must develop new systems to evaluate rare disease therapies - patients deserve access. #Elevidys works. Things families of my patients have told me since getting the drug: 1) He can walk up the stairs at night. nytimes.com/2024/02/19/opiniā¦
This is tragic - yet another instance of an insurance company blocking a rare disease family from access to a life-changing therapy. Give rare disease families a chance, and let doctors dictate treatment plans. #genetherapy. statnews.com/2024/01/09/libmā¦
Great news - this is promising, excited to see what protein expression looks like at the higher doses. Higher protein levels with less frequent dosing would be great for patients! #duchenne #dmd
Dyne Therapeutics Announces Positive Initial Clinical Data globenewswire.com/news-releaā¦
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Great news - excited to see more data on this drug, and looking forward to the future where we have more tools to treat #dystrophin disease
The FDA granted EDG-5506 orphan drug and rare pediatric disease designations for Duchenne MD, and orphan drug designation for Becker MD.
buff.ly/3Noa9oR
#MuscularDystrophyNews #MuscularDystrophy
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Important work - glad to see the full story published. #genetherapy
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial - The Lancet Neurology thelancet.com/journals/laneuā¦
Nothing like having this video come out while at a conference with @LHF_EndDuchenne who had a huge part in making this happen. Proud to care for this incredible family - thank you for sharing your story. #duchennestrong #genetherapy $Srpt chop.edu/video/gene-therapy-ā¦
Digesting the $srpt #embark data. Some promising signals for sure and I am optimistic, but it seems like a big leap to asking for all patients when trials in non-ambulatory patients are ongoing. Safety in #genetherapy is key and we need more data in the older group.
I desperately want more treatment options for my #duchenne patients and strongly believe in informed consent and choice for families, and hope for more data soon.
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Great news to have more treatment options for those with #duchenne
The recent @fda approval of the #MDA-Supported Drug AGAMREEĀ® (vamorolone) from @catalystforrare is a beacon of hope for people living with #Duchenne #MuscularDystrophy (#DMD), a rare but serious degenerative muscle disease. Learn more in #Quest: mdaquest.org/agamree-vamorolā¦
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Great talk from Dr. Amy Waldman on CHOPās development of an academic gene therapy program at the Penn Translational Neuroscience Centerās gene therapy symposium! Proud of what our group is building.
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Day 1 continues - Amazing talk from Dr. Gita Ramdharry on engaging patients from diverse backgrounds in NMD research. Including stakeholders from all backgrounds (patient voices are critical) at all levels of research is key! We must do better. #wms2023 @wms2023
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Great talk on increasing diagnostic yield by interpreting VUSās in genetic muscle disease #WMS2023. My opinion - we need to increase the # of NM specific genetic counselors. Iām lucky to work with an amazing one @ChildrensPhila - really helps with interpreting such VUS.
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Had a great time exploring Charleston this afternoon before #WMS2023 kicks off tonight! @WorldMuscleSoc
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Great news! #Duchenne docs and amazing patient advocacy orgs like @LHF_EndDuchenne will keep fighting until every unfair denial is overturned. Give #DMD patients a chance.
Update: Carterās denial was overturned on external review. Next step: dosing. Now to get all @HCSC plans to change their policy so sick kids can get the treatments they need now.
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