Discover and read the best of Twitter Threads about #Hemophilia
Most recents (13)
🧵Your 18-year-old patient has severe hemophilia B, no history of inhibitors, and has low titer AAV antibodies. He has been treated on-demand for the past 5 years. Would he be a candidate for gene therapy currently in clinical trials? #Tweetorial #MedEd #GeneTherapy #Hemophilia
Understanding who might be a candidate for gene therapy for #hemophilia (GTH) is critical. Why? This new therapy has been approved by regulatory authorities in Europe and is under consideration in the US. So who is eligible? Review: genetherapy.isth.org/9153-tweetoria… #cme_accreditation 
First, How would you characterize your interest in hemophilia?
So far 4 cancers have occurred in #hemophilia patients who have undergone gene therapy with AAV vectors. Salivary gland cancer and ALL in the Biomarin trial, Hepatocellular Carcinoma in the UniQure trial and Tonsil cancer in a Baxter trial. 1/3
Investigations by the companies in each case concluded that the cancers were not related to the gene therapy. It would be good to also have an independent group that looks at the data and comments on any limitations, if present, in the certainty regarding lack of association. 2/3
I hope that every person with #hemophilia that undergoes gene therapy agrees to have their data submitted anonymously to the international database coordinated by the World Federation of Hemophilia. 3/3
Although the list or gross price of Roctavian, the new hemophilia A gene therapy, has not been decided/made public, we have information on the net price that the manufacturer expects from each dose sold: 1.5million euro. #hemophilia #haemophilia 1/3
The price will be based on Outcomes Based Agreement for 5-8 years. Payment assumes the patient is not back on prophylaxis. Example: 5 year agreement. Payment upfront. If patient goes back on prophylaxis after 4 years, there will be a 20% refund. 2/3
The main target for the new hemophilia A gene therapy is Germany. The 1.5m euro price is based on the cost of the current hemophilia therapy in Germany. 3/3 #hemophilia
Exciting new treatments for #hemophilia A and B are in development, one of which is gene therapy.
How would you characterize your interest in hemophilia?
Let’s test your current knowledge of gene therapy for hemophilia (GTH). Of the available methods, which is closest to approval?
@chowdarypm, @ProfMakris, and others report another successful #genetherapy for #hemophilia B clinical trial using the hyperactive FIX variant Padua.
tinyurl.com/346ty35v
🧵 on the clinical development of FIX Padua in gene therapy:
1/7
tinyurl.com/346ty35v
🧵 on the clinical development of FIX Padua in gene therapy:
1/7
This is now the 4th successful Phase1/2 #genetherapy study using #AAV vectors using FIX Padua. The initial demonstration of the benefit of FIX Padua in #genetherapy for #hemophilia B was in a study led by @LindseyAGeorge.
nejm.org/doi/full/10.10…
2/7
nejm.org/doi/full/10.10…
2/7
This initial study was followed by
ashpublications.org/bloodadvances/…
thelancet.com/journals/lanha…
3/7
ashpublications.org/bloodadvances/…
thelancet.com/journals/lanha…
3/7
Thrombin generation assays doing a lot of work at non factor therapy for #hemophilia session at #Isth2022 demonstrating
1/4 🧵
1️⃣ Stability of antithrombin knockdown in subjects receiving fitusiran
1/4 🧵
1️⃣ Stability of antithrombin knockdown in subjects receiving fitusiran
2️⃣ Increased potency of Mim8 compared to emicizumab in phase 1 subjects
3️⃣ Potential use of emicizumab in select #hemophilia B patients
📍 APUNTES MÉDICOS
Aquí te compartimos los factores de la #coagulación empecemos:
- I Fibrinógeno, proteína soluble del plasma
- II Protrombina, está pegada a la membrana plaquetaria
- III Factor tisular, se libera del endotelio vascular a causa de una lesión
- IV Calcio
Aquí te compartimos los factores de la #coagulación empecemos:
- I Fibrinógeno, proteína soluble del plasma
- II Protrombina, está pegada a la membrana plaquetaria
- III Factor tisular, se libera del endotelio vascular a causa de una lesión
- IV Calcio
- V Proacelerina (factor lábil) pegada a la membrana plaquetaria
- VII Proconvertina (Factor estable)
- VIII Factor antihemofílico A, está pegado a la membrana plaquetaria
- IX Factor beta adrenérgico (también llamado antihemofílico B)
- VII Proconvertina (Factor estable)
- VIII Factor antihemofílico A, está pegado a la membrana plaquetaria
- IX Factor beta adrenérgico (también llamado antihemofílico B)
- X Factor de Stuart-Prower
- XI Factor antihemofílico C
- XII Factor de Hageman
- XIII Factor estabilizante de la fibrina
- XIV Proteína C o antitrombina II-A, dependiente de la vitamina K
- XI Factor antihemofílico C
- XII Factor de Hageman
- XIII Factor estabilizante de la fibrina
- XIV Proteína C o antitrombina II-A, dependiente de la vitamina K
🔓 Respuesta al QUIZ !!
💡Hay dos tipos de hemofilia heredada:
Tipo A, es el tipo más común, es causada por una deficiencia del factor VIII, una de las proteínas que ayuda a la sangre a formar los coágulos.
La hemofilia de Tipo B es causada por una deficiencia en el factor IX.
💡Hay dos tipos de hemofilia heredada:
Tipo A, es el tipo más común, es causada por una deficiencia del factor VIII, una de las proteínas que ayuda a la sangre a formar los coágulos.
La hemofilia de Tipo B es causada por una deficiencia en el factor IX.
📍 Te explicamos por qué ocurre...
Los genes que regulan la producción de los factores VIII y IX importantes en la coagulación se encuentran solo en el cromosoma X. La hemofilia la causa un gen anormal en el cromosoma X, en 20% por mutaciones espontáneas de gen.
Los genes que regulan la producción de los factores VIII y IX importantes en la coagulación se encuentran solo en el cromosoma X. La hemofilia la causa un gen anormal en el cromosoma X, en 20% por mutaciones espontáneas de gen.
📍Como se hereda...
Si una mujer es portadora del gen anormal en uno de sus cromosomas (las mujeres tienen un par de cromosomas X), ella no tendrá hemofilia, pero será portadora del trastorno. X.
Si una mujer es portadora del gen anormal en uno de sus cromosomas (las mujeres tienen un par de cromosomas X), ella no tendrá hemofilia, pero será portadora del trastorno. X.
📍 #Quizmédico !!!
La Hemofilia es una enfermedad hereditaria ligada al cromosona X, que afecta fundamentalmente a los individuos del sexo masculino, y se caracteriza por una deficiencia en la coagulación de la sangre.
💡Sabes a cuales factores de la coagulación afecta ? 👇
La Hemofilia es una enfermedad hereditaria ligada al cromosona X, que afecta fundamentalmente a los individuos del sexo masculino, y se caracteriza por una deficiencia en la coagulación de la sangre.
💡Sabes a cuales factores de la coagulación afecta ? 👇
❓ Responde nuestra encuesta y prueba tus conocimientos
✔ Consejo del día ...
Si padeces Hemofilia te recomendamos la práctica de deportes donde no haya contacto.
La natación y el ciclismo pueden ser buenas opiniones.
Por el contrario, en los deportes de contacto existe alto riesgo de afectación articular y traumatismos.
Si padeces Hemofilia te recomendamos la práctica de deportes donde no haya contacto.
La natación y el ciclismo pueden ser buenas opiniones.
Por el contrario, en los deportes de contacto existe alto riesgo de afectación articular y traumatismos.
I joined the Biomarin conference this evening. Not much more info than the press release but here are a few snippets that I learned. 1/7
Biomarin phase 3 steroid use. Number of patients who needed steroids not mentioned. No mention of steroid adverse events. They said they just completed recruitment of a study that uses prophylactic steroids. 2/7
I believe that in #hemophilia gene therapy studies the adverse events due to steroids should be mentioned. These are high dose steroids for several weeks and adverse events are common. 3/7
Biomarin has just announced their year 2 phase 3 (134 patients) ValRox gene therapy in #hemophilia results. Yes on a Sunday evening! Stable and durable bleed control but the FVIII levels are falling significantly. tinyurl.com/2p92ksj8 1/4
Key questions: How many patients needed steroids, what was the variability in levels (and how many had levels <10% and <5%), how long is the response predicted to last? #hemophilia #genetherapy #ValRox 2/4
Considering the mean FVIII levels, it is not surprising that stable and durable annual bleed control was observed. I would expect not many patients in the <10% group. Loss of ABR control would only be expected when the levels fall below 10%. #hemophilia #genetherapy 3/4
Detroit. The history of my city is racially-charged and rooted in the effects of structural and individualized racism. #COVID19 exposed that. As a #SickleCell physician who cares for black patients with #chronicpain and #chronic disease, I have known that for a long time 1/n
#Detroit has the largest black community in the country (84.3%). In 1910 it was 98.7% white, but by 1930, due to the Great Migration the black community grew. The increase in diversity was perceived as a threat to the way of life and the isolation of black people began. 2/n
A terrible example of this comes from 1925, an African American physician #OssianSweet, found his home on surrounded by an angry mob; a neighborhood where he was the most affluent, the resentment from his neighbors that a black man had infiltrated, caused hate and violence. 3/n
“To be honest, I don’t give a damn if that boy with #hemophilia just died in Wuhan...Why not just die in #China?”
Those are words of Taiwanese internet celebrity Chen Yee #陳沂, now agreed by many on social media.
#coronavirus #COVID19 #武漢肺炎
Those are words of Taiwanese internet celebrity Chen Yee #陳沂, now agreed by many on social media.
#coronavirus #COVID19 #武漢肺炎
The kid had previously made headlines bc he was in urgent need of medical supplies but was stranded in #Hubei. Local media had used him as a symbol for at-risk groups to press the govt to made evacuation plans.
#coronavirus
#coronavirus
But since locals found out that his mum was born & raised in #China and has posted pro-Chinese comments on Facebook, public opinion divided. More people like Chen believe that it’s a waste of resources, & that they don’t deserve it.
Note: Both kid & mum hold a TW passport.
Note: Both kid & mum hold a TW passport.
