Results 81 to 90 of about 4,355 (175)

Analysis of Real‐World Data Utilization in the Orphan Drug Approval Process: Focusing on New Drug Marketing Applications Submitted to the FDA

Clinical Pharmacology &Therapeutics, Volume 119, Issue 5, Page 1340-1349, May 2026.
In the field of rare diseases—where traditional clinical trials are often impractical—real‐world data (RWD) have emerged as a scientifically valid alternative to support regulatory decision making. This study systematically evaluates the utilization of RWD in orphan drug approvals by the FDA Center for Drug Evaluation and Research (CDER) over the past ...
Minji Kim, Eunjin Hong
wiley   +1 more source

Chemical synthesis of lipophilic methylene blue analogues which increase mitochondrial biogenesis and frataxin levels

Data in Brief, 2018
As part of an ongoing program to develop potential therapeutic agents for the treatment of the neurodegenerative disease Friedreich׳s ataxia (FRDA), we have prepared a number of lipophilic methylene blue analogues.
Indrajit Bandyopadhyay, Sandipan Roy Chowdhury, Nishant P. Visavadiya, Sidney M. Hecht, Omar M. Khdour   +4 more
doaj   +1 more source

Analysis of Postural Control in Sitting by Pressure Mapping in Patients with Multiple Sclerosis, Spinal Cord Injury and Friedreich’s Ataxia: A Case Series Study

Sensors, 2020
The postural control assessments in patients with neurological diseases lack reliability and sensitivity to small changes in patient functionality. The appearance of pressure mapping has allowed quantitative evaluation of postural control in sitting ...
María Mercedes Reguera-García, Raquel Leirós-Rodríguez, Lorena Álvarez-Barrio, Beatriz Alonso-Cortés Fradejas   +3 more
doaj   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

mRNA Lipid Nanoparticles for Cell Engineering in Vivo and in Vitro: Current Applications and Future Directions

MedComm, Volume 7, Issue 5, May 2026.
Schematic diagram of mRNA‐lipid nanoparticles (mRNA‐LNP) and its functional mechanisms, applications, and challenges in cell engineering. This figure details the structural composition of mRNA‐LNPs and the delivery strategy, highlighting three core challenges.
Lina Li, Menglan Wang, Xiuhan Ye, Zhiyan Liu, Yijing Duan, Xiaoming Chen, Yue Ouyang, Qibiao Wu, Mengjuan Sun, Tian Xie   +9 more
wiley   +1 more source

The MICOS Complex Regulates Mitochondrial Structure and Oxidative Stress During Age‐Dependent Structural Deficits in the Kidney

Aging Cell, Volume 25, Issue 5, May 2026.
During kidney aging, loss of the MICOS complex drives cristae disorganization, impairs oxidative capacity, and alters mitochondrial dynamics. MICOS disruption elevates mitochondrial ROS and disrupts calcium homeostasis, linking mitochondrial structural remodeling to metabolic dysfunction in aging kidney tissue.
Prasanna Katti, Praveena Prasad, Sepiso K. Masenga, Prasanna Venkhatesh, Zer Vue, Andrea G. Marshall, Benjamin Rodriguez, Han Le, Edgar Garza‐Lopez, Alexandria Murphy, Brenita Jenkins, Ashlesha Kadam, Jianqiang Shao, Amber Crabtree, Pamela Martin, Chantell Evans, Mark A. Phillips, David Hubert, Nelson Wandira, Okwute M. Ochayi, Dhanendra Tomar, Clintoria R. Williams, Jennifer Gaddy, Briar Tomeau, LaCara Bell, Taneisha Gillyard, Markis' Hamilton, Vineeta Sharma, Mohd Mabood Khan, Elma Zaganjor, Olujimi A. Ajijola, Estevão Scudese, Tyne W. Miller Fleming, André Kinder, Chandravanu Dash, Anita M. Quintana, Bret C. Mobley, Julia D. Berry, Pooja Jadiya, Dao‐Fu Dai, Annet Kirabo, Oleg Kovtun, Jenny C. Schafer, Sean Schaffer, Renata Oliveira Pereira, Debra D. Murray, Joyonna Gamble‐George, Melanie R. McReynolds, Antentor Hinton Jr   +48 more
wiley   +1 more source

Ferroptosis in Friedreich’s ataxia: a metal-induced neurodegenerative disease [PDF]

, 2020
Ferroptosis is an iron-dependent form of regulated cell death, arising from the accumulation of lipid-based reactive oxygen species when glutathione-dependent repair systems are compromised.
Enrico Silvio Bertini, Maria Teresa Fiorenza, Fiorella Piemonte, Fiorella Piemonte., Sara Petrillo, Piergiorgio La Rosa   +5 more
core   +1 more source

Digital Twins for Friedreich’s Ataxia: A Sequence-to-Sequence Model of Disease Progression

, 2022
Friedreich’s ataxia is a debilitating genetic disease typically diagnosed in childhood. It is characterized by loss of coordination, mobility, and independence, but like many other rare diseases, there is currently no cure.
Balasubramanian, Roshini
core  

FRIEDREICH’S ATAXIA: A RARE NEURODEGENERATIVE CONDITION

, 2020
Friedreich’s ataxia is a rare neuromuscular condition that affects 1 in 50,000 individuals in the United States (“Friedreich’s Ataxia Guide,” 2020). Friedreich’s ataxia, otherwise known as FA, is an autosomal recessive disorder that targets progressive ...
Kalil, Danielle
core  

Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich’s Ataxia

, 2014
How to Cite This Article: Heidari MM , Khatami M, Pourakrami J. Novel Point Mutations in Frataxin Gene in Iranian Patients withFriedreich’s Ataxia. Iran J Child Neurol. 2014 Winter; 8(1):32-36.
KHATAMI, Mehri, POURAKRAMI, Jafar, HEIDARI*, Mohammad Mehdi   +2 more
core   +1 more source