Not logged inAdults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results
Wasserstein, Melissa P.; Hollak, Carla E.; Barbato, Antonio; Gallagher, Renata C.; Giugliani, Roberto; Guelbert, Norberto Bernardo; Hennermann, Julia B.; Ikezoe, Takayuki; Lachmann, Robin; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Thurberg, Beth L.; Villarrubia, Jesus; Armstrong, Nicole M.; Bhushan, Shashi; Kim, Yong; Kumar, Monica .png)
Share.png)
SaveFinal results of the ASCEND trial: Continued or sustained improvements in hepatosplenomegaly, respiratory outcomes, and lipid profile after 4 years of olipudase alfa enzyme replacement therapy in adults with acid sphingomyelinase deficiencyWasserstein, Melissa; Gallagher, Renata C.; Barbato, Antonio; Guigliani, Roberto; Guelbert, Norberto; Hennermann, Julia B.; Ikezoe, Takayuki; Lachmann, Robin; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Villarrubia, Jesus; Thurberg, Beth L.; Armstrong, Nicole M.; Srivastav, Shruti; Wisniewska, Urszula; Kumar, Monica Share Save Share Save Share Save Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individualsMistry, Pramod K.; Cassiman, David; Jones, Simon A.; Lachmann, Robin; Lukina, Elena; Prada, Carlos E.; Wasserstein, Melissa P.; Thurberg, Beth L.; Foster, Meredith C.; Patel, Reema M.; Underhill, Lisa H.; Peterschmitt, M. Judith Share Save Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics researchRamos, Michelle A.; Bonini, Katherine E.; Scarimbolo, Laura; Kelly, Nicole R.; Insel, Beverly; Suckiel, Sabrina A.; Brown, Kaitlyn; Di Biase, Miranda; Gallagher, Katie M.; Lopez, Jessenia; Aguiniga, Karla Lopez; Marathe, Priya N.; Maria, Estefany; Odgis, Jacqueline A.; Rodriguez, Jessica E.; Rodriguez, Michelle A.; Ruiz, Nairovylex; Sebastin, Monisha; Yelton, Nicole M.; Cunningham-Rundles, Charlotte; Gertner, Melvin; Laguerre, Irma; McDonald, Thomas, V; McGoldrick, Patricia E.; Robinson, Mimsie; Rubinstein, Arye; Shulman, Lisa H.; Williams, Trinisha; Wolf, Steven M.; Yozawitz, Elissa G.; Zinberg, Randi E.; Abul-Husn, Noura S.; Bauman, Laurie J.; Diaz, George A.; Ferket, Bart S.; Greally, John M.; Jobanputra, Vaidehi; Gelb, Bruce D.; Kenny, Eimear E.; Wasserstein, Melissa P.; Horowitz, Carol R. Share Save Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual populationMarathe, Priya N.; Suckiel, Sabrina A.; Bonini, Katherine E.; Kelly, Nicole R.; Scarimbolo, Laura; Insel, Beverly J.; Odgis, Jacqueline A.; Sebastin, Monisha; Ramos, Michelle A.; Di Biase, Miranda; Gallagher, Katie M.; Brown, Kaitlyn; Rodriguez, Jessica E.; Yelton, Nicole; Aguiniga, Karla Lopez; Rodriguez, Michelle A.; Maria, Estefany; Lopez, Jessenia; Zinberg, Randi E.; Diaz, George A.; Greally, John M.; Abul-Husn, Noura S.; Bauman, Laurie J.; Gelb, Bruce D.; Wasserstein, Melissa P.; Kenny, Eimear E.; Horowitz, Carol R. Share Save Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United StatesAdang, Laura A.; Bonkowsky, Joshua L.; Boelens, Jaap Jan; Mallack, Eric; Ahrens-Nicklas, Rebecca; Bernat, John A.; Bley, Annette; Burton, Barbara; Darling, Alejandra; Eichler, Florian; Eklund, Erik; Emrick, Lisa; Escolar, Maria; Fatemi, Ali; Fraser, Jamie L.; Gaviglio, Amy; Keller, Stephanie; Patterson, Marc C.; Orchard, Paul; Orthmann-Murphy, Jennifer; Santoro, Jonathan D.; Schoels, Ludger; Sevin, Caroline; Srivastava, Isha N.; Rajan, Deepa; Rubin, Jennifer P.; Van Haren, Keith; Wasserstein, Melissa; Zerem, Ayelet; Fumagalli, Francesca; Laugwitz, Lucia; Vanderver, Adeline Share Save Physician and informal care use explained by the Pediatric Quality of Life Inventory (PedsQL) in children with suspected genetic disordersBerkalieva, Asem; Kelly, Nicole R.; Fisher, Ashley; Hohmann, Samuel F.; Abul-Husn, Noura S.; Greally, John M.; Horowitz, Carol R.; Wasserstein, Melissa P.; Kenny, Eimear E.; Gelb, Bruce D.; Ferket, Bart S. Share Save Share Save Olipudase alfa enzyme replacement therapy reverses interstitial lung disease in adults with acid sphingomyelinase deficiency: Long-term pulmonary outcomes of the ASCEND trialWasserstein, Melissa; Bonella, Francesco; Giugliani, Roberto; Lachmann, Robin; Noth, Imre; Scarpa, Maurizio; Wuyts, Wim A.; Aguiar, Mario; Armstrong, Nicole; Kumar, Monica; Berger, Kenneth Share Save Share Save Improvements in liver and lipid outcomes continue in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years with olipudase alfa in long-term clinical trialsLachmann, Robin; Ganesh, Jaya; Giugliani, Roberto; Guffon, Nathalie; Mengel, Eugen; Scarpa, Maurizio; Wasserstein, Melissa; Aguiar, Mario; Armstrong, Nicole; Thurberg, Beth L.; Kumar, Monica Share Save Share Save Collaborative research efforts drive therapeutic advancements for free sialic acid storage disorder (FSASD)Malicdan, May Christine; Adams, David R.; Brooks, P. J.; Dobrenis, Konstantin; Gahl, William A.; Gasnier, Bruno; Hackbarth, Mary E.; Hossain, Mahin; Leoyklang, Petcharat; Anne-Longin, Christine; Paavola, Liisa; Platt, Frances; Pollard, Laura; Reimer, Richard; Sabir, Marya S.; Wang, Raymond Y.; Walkley, Steven; Wasserstein, Melissa; Huizing, Marjan Share Save Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq programBerkalieva, Asem; Kelly, Nicole R.; Fisher, Ashley; Hohmann, Samuel F.; Sebastin, Monisha; Di Biase, Miranda; Bonini, Katherine E.; Marathe, Priya; Odgis, Jacqueline A.; Suckiel, Sabrina A.; Ramos, Michelle A.; Rhodes, Rosamond; Abul-Husn, Noura S.; Greally, John M.; Horowitz, Carol R.; Wasserstein, Melissa P.; Kenny, Eimear E.; Gelb, Bruce D.; Ferket, Bart S. Share Save The motivation and process for developing a consortium-wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient careHoban, Hannah G.; Yip, Tiffany A.; Chau, Joanna C.; Bensen, Jeannette T.; Desrosiers, Lauren R.; Finnila, Candice R.; Hindorff, Lucia A.; Kelly, Nicole R.; Lynch, Frances L.; Rolf, Bradley A.; Smith, Hadley S.; Wasserstein, Melissa P.; Hassmiller Lich, Kristen Share Save Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trialWasserstein, Melissa P.; Lachmann, Robin; Hollak, Carla; Barbato, Antonio; Gallagher, Renata C.; Giugliani, Roberto; Guelbert, Norberto Bernardo; Hennermann, Julia B.; Ikezoe, Takayuki; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Villarrubia, Jesus; Thurberg, Beth L.; Yarramaneni, Abhimanyu; Armstrong, Nicole M.; Kim, Yong; Kumar, Monica Share Save The NYCKidSeq randomized controlled trial: Impact of GUIA digitally enhanced genetic results disclosure in diverse familiesSuckiel, Sabrina A.; Kelly, Nicole R.; Odgis, Jacqueline A.; Gallagher, Katie M.; Sebastin, Monisha; Bonini, Katherine E.; Marathe, Priya N.; Brown, Kaitlyn; Biase, Miranda Di; Ramos, Michelle A.; Rodriguez, Jessica E.; Scarimbolo, Laura; Insel, Beverly J.; Ferar, Kathleen D. M.; Zinberg, Randi E.; Diaz, George A.; Greally, John M.; Abul-Husn, Noura S.; Bauman, Laurie J.; Gelb, Bruce D.; Horowitz, Carol R.; Wasserstein, Melissa P.; Kenny, Eimear E. Share Save Reversal of interstitial lung disease after olipudase alfa enzyme replacement therapy in adults with acid sphingomyelinase deficiencyBonella, Francesco; Wasserstein, Melissa; Giugliani, Roberto; Lachmann, Robin; Noth, Imre; Scarpa, Maurizio; Wuyts, Wim A.; Aguiar, Mario; Armstrong, Nicole M.; Jessel, Andreas; Kumar, Monica; Waters, Sara; Berger, Kenneth I. Share Save 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
