Therapeutic advances in rare disease

Keyphrases

Publications

volume 18, 2024

JayEtta Hecker, Gabrielle Conecker, Chere Chapman, Rebecca Hommer, Natasha N Ludwig, Gunes Sevinc, Sara Te, Mary Wojnaroski, Jenny Downs, Anne T Berg
Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials. Therapeutic advances in rare disease 18 (2024)
JayEtta Hecker, Gabrielle Conecker, Chere Chapman, Rebecca Hommer, Natasha N Ludwig, Gunes Sevinc, Sara Te, Mary Wojnaroski, Jenny Downs, Anne T Berg
Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials. Therapeutic advances in rare disease 18 (2024)

volume 5, 2024

Sarah Nelson Potter, Elizabeth Reynolds, Katherine C Okoniewski, Anne Edwards, Julia Gable, Christine Hill, Vesselina Bakalov, Stephanie Zentz, Carolyne Whiting, Emily Cheves, Katie Garbarini, Elizabeth Jalazo, Carrie Howell, Amanda Moore, Anne Wheeler
Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions. Therapeutic advances in rare disease 5 (2024)
Ryan Rogers-Hammond, Carrie Howell
An integrated action plan to fund and support drug development for Dup15q syndrome: a patient organization perspective. Therapeutic advances in rare disease 5 (2024)
Annelieke R Müller, Nadia Y van Silfhout, Bibiche den Hollander, Dick H C Kampman, Lianne Bakkum, Marion M M G Brands, Lotte Haverman, Caroline B Terwee, Carlo Schuengel, Joost Daams, David Hessl, Frits A Wijburg, Erik Boot, Agnies M van Eeghen
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability. Therapeutic advances in rare disease 5 (2024)
Sarah Nelson Potter, Elizabeth Reynolds, Katherine C Okoniewski, Anne Edwards, Julia Gable, Christine Hill, Vesselina Bakalov, Stephanie Zentz, Carolyne Whiting, Emily Cheves, Katie Garbarini, Elizabeth Jalazo, Carrie Howell, Amanda Moore, Anne Wheeler
Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions. Therapeutic advances in rare disease 5 (2024)
James R Goss, Benjamin Prosser, Ingo Helbig, Charlene Son Rigby
STXBP1: fast-forward to a brighter future - a patient organization perspective. Therapeutic advances in rare disease 5 (2024)
Marielle G Contesse, Rebecca J Woods, Mindy Leffler, Silvia Prades, Julie Greenfield, Andrea Compton, Jeffrey B Carroll
Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life: a qualitative interview study with patients and caregivers. Therapeutic advances in rare disease 5 (2024)
James R Goss, Benjamin Prosser, Ingo Helbig, Charlene Son Rigby
STXBP1: fast-forward to a brighter future - a patient organization perspective. Therapeutic advances in rare disease 5 (2024)
Anna C Pfalzer, Blake Ivers, Alayna Haynam, Barbara Drake, David A Koolen, Nael Nadif Kasri, Bert B A de Vries, Heather C Mefford, Angela Morgan, Terry Jo Bichell, Elijah Simon, Ananya Terala, Kenneth A Myers, Ashley Point
Koolen-de Vries Syndrome: a journey from diagnosis to treatments. Therapeutic advances in rare disease 5 (2024)
Anna C Pfalzer, Blake Ivers, Alayna Haynam, Barbara Drake, David A Koolen, Nael Nadif Kasri, Bert B A de Vries, Heather C Mefford, Angela Morgan, Terry Jo Bichell, Elijah Simon, Ananya Terala, Kenneth A Myers, Ashley Point
Koolen-de Vries Syndrome: a journey from diagnosis to treatments. Therapeutic advances in rare disease 5 (2024)
Ryan Rogers-Hammond, Carrie Howell
An integrated action plan to fund and support drug development for Dup15q syndrome: a patient organization perspective. Therapeutic advances in rare disease 5 (2024)
Kerry Grens, Kit M Church, Eric Diehl, Senyene E Hunter, Katrina Tatton-Brown, Jill Kiernan, Christal G Delagrammatikas
Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment. Therapeutic advances in rare disease 5 (2024)
Pangkong M Fox, Sunitha Malepati, Lisa Manaster, Elsa Rossignol, Jeffrey L Noebels
Developing a pathway to clinical trials for CACNA1A -related epilepsies: A patient organization perspective. Therapeutic advances in rare disease 5 (2024)
Shuangxia Dong, Fengxiang Wang, Haizhen Jin, Xinjian Dai
Five cases of pulmonary Aspergillus nodules diagnosed at surgery and by pathology in immunocompetent patients, with a literature review. Therapeutic advances in rare disease 5 (2024)
Silvia Prades, Andrea Compton, Jeffrey B Carroll
Establishing resources and increasing awareness to advance research on Dentatorubral-pallidoluysian atrophy toward a treatment: a patient organization perspective. Therapeutic advances in rare disease 5 (2024)
Marielle G Contesse, Rebecca J Woods, Mindy Leffler, Silvia Prades, Julie Greenfield, Andrea Compton, Jeffrey B Carroll
Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life: a qualitative interview study with patients and caregivers. Therapeutic advances in rare disease 5 (2024)
Amanda Jaksha, Marissa Bishop, Karen Utley, Heidi L Grabenstatter
The small steps that lead to big impact: translating therapeutics from idea to reality for the CDKL5 deficiency disorder community. Therapeutic advances in rare disease 5 (2024)
Annelieke R Müller, Nadia Y van Silfhout, Bibiche den Hollander, Dick H C Kampman, Lianne Bakkum, Marion M M G Brands, Lotte Haverman, Caroline B Terwee, Carlo Schuengel, Joost Daams, David Hessl, Frits A Wijburg, Erik Boot, Agnies M van Eeghen
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability. Therapeutic advances in rare disease 5 (2024)
Eileen Sullivan Baker, Jennifer Botham, Tasia Rechisky, Evelyn Romano, Daniel Garcia, Susan A Berry
Understanding patient, caregiver, and healthcare provider perspectives of the management of long-chain fatty acid oxidation disorders. Therapeutic advances in rare disease 5 (2024)
Jacy Sparks, Francesco Michelassi, John L P Thompson, Richard Buchsbaum, Natacha Pires, Janet T DeRosa, Kristin Engelstad, Salvatore DiMauro, Hasan Orhan Akman, Michio Hirano
A United States-based patient-reported adult polyglucosan body disease registry: initial results. Therapeutic advances in rare disease 5 (2024)
Tanya L Brown, Matthew N Bainbridge, Grit Zahn, Kim L Nye, Brenda E Porter
The growing research toolbox for SLC13A5 citrate transporter disorder: a rare disease with animal models, cell lines, an ongoing Natural History Study and an engaged patient advocacy organization. Therapeutic advances in rare disease 5 (2024)
Steven L Roberds, Zoë Fuchs, Elizabeth M Cassidy, Samantha Metzger, Ayat Abi, Ashley J Pounders, Dean J Aguiar
The role of the TSC Alliance in advancing therapy development: a patient organization perspective. Therapeutic advances in rare disease 5 (2024)
Christine Brennan, Abigail Matthews, Sherri Tennant
Successful use of an eye gaze AAC communication board by a young adult with advanced Sanfilippo Syndrome (MPS IIIA): Case report. Therapeutic advances in rare disease 5 (2024)
Gabrielle V Rushing, Jennifer Sills
Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome. Therapeutic advances in rare disease 5 (2024)
Steven L Roberds, Zoë Fuchs, Elizabeth M Cassidy, Samantha Metzger, Ayat Abi, Ashley J Pounders, Dean J Aguiar
The role of the TSC Alliance in advancing therapy development: a patient organization perspective. Therapeutic advances in rare disease 5 (2024)
Annelieke R Müller, Nadia Y van Silfhout, Bibiche den Hollander, Dick H C Kampman, Lianne Bakkum, Marion M M G Brands, Lotte Haverman, Caroline B Terwee, Carlo Schuengel, Joost Daams, David Hessl, Frits A Wijburg, Erik Boot, Agnies M van Eeghen
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability. Therapeutic advances in rare disease 5 (2024)
Tanya L Brown, Matthew N Bainbridge, Grit Zahn, Kim L Nye, Brenda E Porter
The growing research toolbox for SLC13A5 citrate transporter disorder: a rare disease with animal models, cell lines, an ongoing Natural History Study and an engaged patient advocacy organization. Therapeutic advances in rare disease 5 (2024)
Eileen Sullivan Baker, Jennifer Botham, Tasia Rechisky, Evelyn Romano, Daniel Garcia, Susan A Berry
Understanding patient, caregiver, and healthcare provider perspectives of the management of long-chain fatty acid oxidation disorders. Therapeutic advances in rare disease 5 (2024)
Kerry Grens, Kit M Church, Eric Diehl, Senyene E Hunter, Katrina Tatton-Brown, Jill Kiernan, Christal G Delagrammatikas
Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment. Therapeutic advances in rare disease 5 (2024)
Margaret C Savage, Geraldine Bliss, Joseph D Buxbaum, Jordan S Farrell, April R Levin, Siddharth Srivastava, Elizabeth Berry-Kravis, J Lloyd Holder, Mustafa Sahin
A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop. Therapeutic advances in rare disease 5 (2024)
Jacy Sparks, Francesco Michelassi, John L P Thompson, Richard Buchsbaum, Natacha Pires, Janet T DeRosa, Kristin Engelstad, Salvatore DiMauro, Hasan Orhan Akman, Michio Hirano
A United States-based patient-reported adult polyglucosan body disease registry: initial results. Therapeutic advances in rare disease 5 (2024)
Silvia Prades, Andrea Compton, Jeffrey B Carroll
Establishing resources and increasing awareness to advance research on Dentatorubral-pallidoluysian atrophy toward a treatment: a patient organization perspective. Therapeutic advances in rare disease 5 (2024)
Shuangxia Dong, Fengxiang Wang, Haizhen Jin, Xinjian Dai
Five cases of pulmonary Aspergillus nodules diagnosed at surgery and by pathology in immunocompetent patients, with a literature review. Therapeutic advances in rare disease 5 (2024)
Christine Brennan, Abigail Matthews, Sherri Tennant
Successful use of an eye gaze AAC communication board by a young adult with advanced Sanfilippo Syndrome (MPS IIIA): Case report. Therapeutic advances in rare disease 5 (2024)
Gabrielle V Rushing, Jennifer Sills
Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome. Therapeutic advances in rare disease 5 (2024)
Pangkong M Fox, Sunitha Malepati, Lisa Manaster, Elsa Rossignol, Jeffrey L Noebels
Developing a pathway to clinical trials for CACNA1A -related epilepsies: A patient organization perspective. Therapeutic advances in rare disease 5 (2024)

volume 4, 2023

Benjamin L Hamel, Seema Kumar, Leah Heidenreich, Avni Joshi, Christiana DaSilva, Faizal Z Asumda
A novel case of homozygous PAX1 mutation associated with hypoparathyroidism. Therapeutic advances in rare disease 4 (2023)
Mona Kenani, Rafaa Babgi, Sultan Bakri
Bulbar conjunctival plexiform schwannoma in a 5-year-old patient; expect the unexpected! Therapeutic advances in rare disease 4 (2023)
Mona Kenani, Rafaa Babgi, Sultan Bakri
Bulbar conjunctival plexiform schwannoma in a 5-year-old patient; expect the unexpected! Therapeutic advances in rare disease 4 (2023)
Amy M Patterson, Megan O'Boyle, Grace E VanNoy, Kira A Dies
Emerging roles and opportunities for rare disease patient advocacy groups. Therapeutic advances in rare disease 4 (2023)
James T Kwan, Erin Lanzo, Lester H Lambert, Aarti Kalra, Geetha K Athappilly-Rolfe
Papilledema and retinopathy lead to diagnosis of IgA nephropathy: a case report. Therapeutic advances in rare disease 4 (2023)
Amy M Patterson, Megan O'Boyle, Grace E VanNoy, Kira A Dies
Emerging roles and opportunities for rare disease patient advocacy groups. Therapeutic advances in rare disease 4 (2023)
Iwens Moreira de Faria, Augusto Machado de Souza, Luiz Rodrigues Pereira Júnior, Gabriel Gomes Vieira Ribeiro Leite
Surgical resection therapy of a rare presentation of persistent Mullerian duct syndrome: a case review. Therapeutic advances in rare disease 4 (2023)
Benjamin L Hamel, Seema Kumar, Leah Heidenreich, Avni Joshi, Christiana DaSilva, Faizal Z Asumda
A novel case of homozygous PAX1 mutation associated with hypoparathyroidism. Therapeutic advances in rare disease 4 (2023)
Silvia Radenkovic, Christin Johnsen, Andreas Schulze, Gurnoor Lail, Laura Guilder, Kaitlin Schwartz, Matthew Schultz, Saadet Mercimek-Andrews, Suzanne Boyer, Eva Morava
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series. Therapeutic advances in rare disease 4 (2023)
Faizal Z Asumda, Jessica A Kraker, Sarah C Thomas, Joseph Maleszewski, Edwin M Stone, Brendan C Lanpher, Lisa A Schimmenti
Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report. Therapeutic advances in rare disease 4 (2023)
Pankti Haria, Vinayak Kedage, Pradnya Dalvi, Satyen Sanghavi, Parvathi Chandran
Successful combined umbilical cord blood and bone marrow transplantation from an HLA-matched sibling for MPS VI: a case report. Therapeutic advances in rare disease 4 (2023)
Katherine L Beaverson, Daria Julkowska, Mary Catherine V Letinturier, Annemieke Aartsma-Rus, Jennifer Austin, Juan Bueren, Simon Frost, Misako Hamamura, Jane Larkindale, Greg LaRosa, Rita Magenheim, Annamaria Merico, Anna Maria Gerdina Pasmooij, Vinciane Pirard, Nicholas Ekow Thomford, Michihiko Wada, Durhane Wong-Rieger, Adam L Hartman
The IRDiRC Chrysalis Task Force: making rare disease research attractive to companies. Therapeutic advances in rare disease 4 (2023)
Faizal Z Asumda, Jessica A Kraker, Sarah C Thomas, Joseph Maleszewski, Edwin M Stone, Brendan C Lanpher, Lisa A Schimmenti
Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report. Therapeutic advances in rare disease 4 (2023)