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Journal articles on the topic 'TREAT-NMD'

Author: Grafiati

Published: 4 June 2025

Last updated: 1 August 2025

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1

Nguyen, Tran M., Matt Downs, Neil Bennett, et al. "Academic Productivity from Rare Neuromuscular Disease Registries: A Systematic Review." Journal of Rare Diseases Research & Treatment 7, no. 2 (2022): 5–15. http://dx.doi.org/10.29245/2572-9411/2022/2.1204.

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Background: TREAT-NMD is a global neuromuscular (NM) organization, created to enhance infrastructure to facilitate novel therapeutics reaching patients. One main activity is aimed at supporting NM disease registries. These rare disease registries are useful to fill knowledge gaps for various stakeholders in the disease community using real world data. Although it is important to understand how patient data is being utilized in the TREAT-NMD network and other rare disease registries, there is no systematic process or consistent metric for documenting the academic output from these registries. O

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2

Leary, Rebecca, Anne Oyewole, Katharine Bushby, and Annemieke Aartsma-Rus. "Translational Research in Europe for the Assessment and Treatment for Neuromuscular Disorders (TREAT-NMD)." Neuropediatrics 48, no. 04 (2017): 211–20. http://dx.doi.org/10.1055/s-0037-1604110.

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AbstractTranslational research in Europe for the assessment and treatment of neuromuscular disorders (TREAT-NMD) is a global network of world-class experts within the neuromuscular community whose mission is to support all stages of therapy development and improve the health and quality of life of people around the world with neuromuscular disorders (NMD). Since 2007, TREAT-NMD has played a central role in bringing together the right experts, patients, advocacy organizations, scientists, healthcare professionals, and pharmaceutical companies. By uniting these experts within the neuromuscular c

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3

Echols, Josh, Amna Siddiqui, Yanying Dai, et al. "A regulated NMD mouse model supports NMD inhibition as a viable therapeutic option to treat genetic diseases." Disease Models & Mechanisms 13, no. 8 (2020): dmm044891. http://dx.doi.org/10.1242/dmm.044891.

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ABSTRACTNonsense-mediated mRNA decay (NMD) targets mRNAs that contain a premature termination codon (PTC) for degradation, preventing their translation. By altering the expression of PTC-containing mRNAs, NMD modulates the inheritance pattern and severity of genetic diseases. NMD also limits the efficiency of suppressing translation termination at PTCs, an emerging therapeutic approach to treat genetic diseases caused by in-frame PTCs (nonsense mutations). Inhibiting NMD may help rescue partial levels of protein expression. However, it is unclear whether long-term, global NMD attenuation is sa

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4

Ambrosini, Anna, Daniela Calabrese, Francesco Maria Avato, et al. "The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage." Orphanet Journal of Rare Diseases 13, no. 1 (2018): 176. https://doi.org/10.1186/s13023-018-0918-z.

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<strong>Background: </strong>The worldwide landscape of patient registries in the neuromuscular disease (NMD) field has significantly changed in the last 10 years, with the international TREAT-NMD network acting as strong driver. At the same time, the European Medicines Agency and the large federations of rare disease patient organizations (POs), such as EURORDIS, contributed to a great cultural change, by promoting a paradigm shift from product-registries to patient-centred registries. In Italy, several NMD POs and Fondazione Telethon undertook the development of a TREAT-NMD linked patient re

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5

Wu, Xingxin, Tao Tan, and Qiang Xu. "Metastatic colorectal cancer cells harness nonsense-mediated mRNA decay for immune evasion." Journal of Immunology 204, no. 1_Supplement (2020): 242.17. http://dx.doi.org/10.4049/jimmunol.204.supp.242.17.

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Abstract Immunosuppression microenvironment allows primary tumor growth, while tumor-inherent factors that bring about immune evasion during metastasis remain elusive. Here, we observed a stronger nonsense-mediated mRNA decay (NMD) activity with a higher expression of up-frameshift protein 1 (UPF1) in colorectal cancer (CRC) metastasis than in matched primary cancer cells. In metastatic CRC SW620 cells, the higher UPF1 expression was found to arise from the increased stability of UPF1 by ubiquitin specific peptidase 10 (USP10)-mediated deubiquitination. In contrast, in primary CRC SW480 cells,

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6

Stanescu, A., J. Kirschner, C. Marx, et al. "T.P.3.08 The TREAT-NMD Clinical Trials Coordination Centre (CTCC)." Neuromuscular Disorders 18, no. 9-10 (2008): 796. http://dx.doi.org/10.1016/j.nmd.2008.06.247.

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7

Alkufi, Hussein Kadhum, and Hanan Jalal Kassab. "Nanospanlastic in situ Gel for Nose to Brain Delivery of Nimodipine: In vitro Optimization and in vivo Pharmacokinetic Study." Al-Rafidain Journal of Medical Sciences ( ISSN 2789-3219 ) 8, no. 1 (2025): 97–105. https://doi.org/10.54133/ajms.v8i1.1687.

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Background: The FDA has approved the medication nimodipine (NMD) to treat vasospasm brought on by subarachnoid hemorrhage. The most popular way to administer NMD is intravenously, which can result in several adverse effects, including bradycardia, hypotension, arrhythmias, and inflammation at the administration site. Objective: To evaluate the effectiveness of nose-to-brain (NTB) delivery of NMD as spanlastic nanovesicles (SNV) in situ gel into the brain and compare it with IV infusion. Methods: The nanovesicle formulation by the ethanol injection method used Span 60 as a non-ionic surfactant

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8

Gramsch, K., A. Pohl, J. Kirschner, R. Korinthenberg, S. Geismann, and A. Tassoni. "M.P.1.09 TREAT-NMD Clinical Trials Coordination Centre: Efficiency of networking." Neuromuscular Disorders 19, no. 8-9 (2009): 548–49. http://dx.doi.org/10.1016/j.nmd.2009.06.020.

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9

Hussein K. Alkufi and Hanan Kassab. "A Potential Method for Enhanced Performance of Nimodipine by Spanlastic Nanovesicle with Tween 40 as Edge Activator." Iraqi Journal of Pharmaceutical Sciences 34, no. 2 (2025): 227–38. https://doi.org/10.31351/vol34iss2pp227-238.

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This investigation aimed to investigate the potential of utilizing nanospanlastics to improve the bioavailability of nimodipine (NMD). To treat subarachnoid hemorrhage-induced vasospasm, physicians prescribe NMD, an FDA-approved drug. Intravenous (IV) administration is the most common way to provide NM, and it can have several unfavorable effects, including injection site irritation, bradycardia, hypotension, and arrhythmias. Made up of surfactants and edge activators (EAs), nanospanlastics are malleable nanovesicles. EAs improve the deformability of spanlastics by acting as a stabilizing forc

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10

Aartsma-Rus, A., E. Hoffman, F. Bucella, et al. "TREAT-NMD (translational research in Europe, assessment and treatment for neuromuscular disorders)." Neuromuscular Disorders 25 (October 2015): S271. http://dx.doi.org/10.1016/j.nmd.2015.06.309.

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11

Straub, Volker, Pierre G. Carlier, and Eugenio Mercuri. "TREAT-NMD workshop: Pattern recognition in genetic muscle diseases using muscle MRI." Neuromuscular Disorders 22 (October 2012): S42—S53. http://dx.doi.org/10.1016/j.nmd.2012.08.002.

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12

Aartsma-Rus, Annemieke, Jennifer Morgan, Pallavi Lonkar, et al. "Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology." Journal of Neuromuscular Diseases 6, no. 1 (2019): 147–59. http://dx.doi.org/10.3233/jnd-180357.

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13

Sejersen, T. S. "T.P.3.07 TREAT-NMD work on standards of diagnosis and care of NMDs." Neuromuscular Disorders 18, no. 9-10 (2008): 795–96. http://dx.doi.org/10.1016/j.nmd.2008.06.246.

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14

Bennett, N., R. Roxburgh, B. Porter, et al. "P.212 TREAT-NMD Myotonic dystrophy (DM) Global Registry Network: An update in 2022." Neuromuscular Disorders 32 (October 2022): S132. http://dx.doi.org/10.1016/j.nmd.2022.07.374.

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15

Willmann, R., M. A. Rüegg, R. Fairclough, K. E. Davies, S. Possekel, and T. Meier. "T.P.3.03 TREAT-NMD-Activity 7: Accelerate preclinical phase of new therapeutic treatment development." Neuromuscular Disorders 18, no. 9-10 (2008): 794. http://dx.doi.org/10.1016/j.nmd.2008.06.242.

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16

Auld, J. M., R. Seyedsadjadi, and M. Rose. "T.P.3.06 The TREAT NMD registry of outcome measures for neuromuscular disease – An introduction." Neuromuscular Disorders 18, no. 9-10 (2008): 795. http://dx.doi.org/10.1016/j.nmd.2008.06.245.

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17

Thompson, Rachel, Benedikt Schoser, Darren G. Monckton, Karla Blonsky, and Hanns Lochmüller. "Patient Registries and Trial Readiness in Myotonic Dystrophy – TREAT-NMD/Marigold International Workshop Report." Neuromuscular Disorders 19, no. 12 (2009): 860–66. http://dx.doi.org/10.1016/j.nmd.2009.08.009.

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18

Poll, A., N. Bennett, H. Chua Cheh, A. Ambrosini, M. Rodrigues, and M. Guglieri. "P193 TREAT-NMD global registry network: an insight into a global neuromuscular patient dataset." Neuromuscular Disorders 33 (October 2023): S142. http://dx.doi.org/10.1016/j.nmd.2023.07.302.

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19

Mercuri, E., A. Mayhew, F. Muntoni, et al. "Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops: TREAT-NMD/ENMC Workshop on outcome measures, 12th–13th May 2007, Naarden, The Netherlands; TREAT-NMD Workshop on outcome measures in experimental trials for DMD, 30th June–1st July 2007, Naarden, The Netherlands; Conjoint Institute of Myology TREAT-NMD Meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France." Neuromuscular Disorders 18, no. 11 (2008): 894–903. http://dx.doi.org/10.1016/j.nmd.2008.07.003.

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20

Jamaluddin, Sri Mintarti, Rita Damayanti, Randhi Akhdiyat, and Sonhaji. "Environmental Accounting; An Overview Utilization Of Eco Enzyme For Treatment Nail And Mouth Diseases (Nmd) Of Cows In Malang." International Journal of Accounting and Business Society 31, no. 2 (2023): 167–81. http://dx.doi.org/10.21776/ijabs.2023.31.2.750.

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Purpose – This study aims to determine the effectiveness of using eco-enzymes for treating nail and mouth disease (NMD) in cattle from the perspective of environmental accounting. This eco-enzyme is produced by fermenting household organic waste, sugar, and water. Eco Enzyme is environmentally friendly and helps improve environmental quality. Methodology – This type of research uses mixed methods with a case study approach. The innovation perspective is carried out as a strategy to understand the problems. In addition, in-depth interviews and direct observations were conducted to understand th

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21

Turner, C., V. Straub, and K. Wagner. "The TREAT-NMD Advisory Committee for Therapeutics (TACT): facilitating drug development in neuromuscular rare diseases." Neuromuscular Disorders 27 (March 2017): S37. http://dx.doi.org/10.1016/s0960-8966(17)30329-2.

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22

Aartsma-Rus, Annemieke, Eugenio Mercuri, Elizabeth Vroom, and Pavel Balabanov. "Meeting report of the “Regulatory Exchange Matters” session at the 5th International TREAT-NMD Conference:." Neuromuscular Disorders 28, no. 7 (2018): 619–23. http://dx.doi.org/10.1016/j.nmd.2018.04.009.

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23

Bladen, Catherine L., Karen Rafferty, Volker Straub, et al. "The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia." Human Mutation 34, no. 11 (2013): 1449–57. http://dx.doi.org/10.1002/humu.22390.

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24

Bladen, Catherine L., David Salgado, Soledad Monges, et al. "The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations." Human Mutation 36, no. 4 (2015): 395–402. http://dx.doi.org/10.1002/humu.22758.

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25

Patout, Maxime, Elodie Lhuillier, Georgios Kaltsakas, et al. "Long-term survival following initiation of home non-invasive ventilation: a European study." Thorax 75, no. 11 (2020): 965–73. http://dx.doi.org/10.1136/thoraxjnl-2019-214204.

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IntroductionAlthough home non-invasive ventilation (NIV) is increasingly used to manage patients with chronic ventilatory failure, there are limited data on the long-term outcome of these patients. Our aim was to report on home NIV populations and the long-term outcome from two European centres.MethodsCohort analysis including all patients established on home NIV from two European centres between 2008 and 2014.ResultsHome NIV was initiated in 1746 patients to treat chronic ventilatory failure caused by (1) obesity hypoventilation syndrome±obstructive sleep apnoea (OHS±OSA) (29.5%); (2) neuromu

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26

Porter, B., N. Bennett, D. Allison, et al. "FP.30 TREAT-NMD FSHD Global Registry Network: A collaboration of neuromuscular and FSHD patient registries." Neuromuscular Disorders 32 (October 2022): S104. http://dx.doi.org/10.1016/j.nmd.2022.07.256.

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27

Hoffman, E. P., Carsten Bonnemann, Marc Boutin, et al. "Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA." Neuromuscular Disorders 27, no. 7 (2017): 693–701. http://dx.doi.org/10.1016/j.nmd.2017.02.013.

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28

Leary, R., A. Oyewole, N. Goemans, H. Dawkins, and C. Campbell. "Audit of the TREAT-NMD global DMD and SMA registries: new insights into data collection methods." Neuromuscular Disorders 27 (October 2017): S127—S128. http://dx.doi.org/10.1016/j.nmd.2017.06.131.

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29

Madunová, A., and M. Duračinská. "Practical Experience with Providing Specialized Social Services for Rare Disease Patients / Praktické skúsenosti v poskytovaní špeciálnych sociálnych služieb pre pacientov so zriedkavými chorobami." Acta Facultatis Pharmaceuticae Universitatis Comenianae 60, Supplementum-VIII (2013): 47–54. http://dx.doi.org/10.2478/afpuc-2013-0010.

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Organization of Muscular Dystrophy in the Slovak Republic (OMD in SR) is the only specific organization in Slovakia which associates children and adults with muscular dystrophy and other types of neuromuscular diseases (hereafter only NMD) and their families. The organization was founded as an independent public association in 1993. It has been providing social counselling and other specialized social services for its members and clients. In its early years, it performed the community service and nonprofit activities on a voluntary basis; today, a professional team of nine takes part in its ac

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30

Peric, S., B. Porter, N. Bennett, et al. "P.213 TREAT-NMD myotonic dystrophy global registry network: An international collaboration in myotonic dystrophy type 2." Neuromuscular Disorders 32 (October 2022): S132. http://dx.doi.org/10.1016/j.nmd.2022.07.375.

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31

Turner, C., L. Robertson, K. Bushby, et al. "689P Highlights and key learnings from 15 years of the TREAT-NMD Advisory Committee for Therapeutics (TACT)." Neuromuscular Disorders 43 (October 2024): 104441.183. http://dx.doi.org/10.1016/j.nmd.2024.07.192.

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32

Koeks, Zaïda, Catherine L. Bladen, David Salgado, et al. "Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database." Journal of Neuromuscular Diseases 4, no. 4 (2017): 293–306. http://dx.doi.org/10.3233/jnd-170280.

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33

Willmann, Raffaella, Joanne Lee, Cathy Turner, et al. "Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)." Disease Models & Mechanisms 13, no. 2 (2020): dmm042903. http://dx.doi.org/10.1242/dmm.042903.

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34

Rodger, Sunil, Hanns Lochmüller, Adrian Tassoni, et al. "The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases." Orphanet Journal of Rare Diseases 8, no. 1 (2013): 171. http://dx.doi.org/10.1186/1750-1172-8-171.

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35

Wells, D., E. Heslop, C. Csimma, et al. "The TREAT-NMD Advisory Committee for Therapeutics (TACT): An innovative de-risking model to foster orphan drug development." Neuromuscular Disorders 25 (October 2015): S271. http://dx.doi.org/10.1016/j.nmd.2015.06.308.

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36

Humbertclaude, V., S. Tuffery-Giraud, D. Hamroun, et al. "T.P.3.05 TREAT-NMD global patients’ registries: A unified global source of information about patients with neuromuscular diseases." Neuromuscular Disorders 18, no. 9-10 (2008): 795. http://dx.doi.org/10.1016/j.nmd.2008.06.244.

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37

Cabrera, Claudia, Sridhar N. Srivatsan, Abigael Cheruiyot, et al. "Primary U2AF1 S34F Mutated Hematopoietic Cells Are Sensitive to Nonsense-Mediated RNA Decay Disruption In Vivo." Blood 142, Supplement 1 (2023): 43. http://dx.doi.org/10.1182/blood-2023-181984.

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Expression of mutant splicing factors alters RNA splicing in myeloid malignancies, including increased production of nonsense transcripts that rely on nonsense-mediated RNA decay (NMD) for clearance. Cell lines expressing spliceosome mutants are more sensitive to NMD inhibition than wild-type cells, and the differential sensitivity is partially dependent on R-loop formation. However, the impact of NMD disruption on the viability of primary hematopoietic cells with splicing factor mutations has not been tested in vivo. We engineered mouse MLL-AF9 acute myeloid leukemia (AML) cells to inducibly

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38

Muntoni, Francesco, Annemieke Aartsma-Rus, Eugenio Mercuri, and Hanns Lochmüller. "New Perspectives on the Diagnosis and Management of Duchenne Muscular Dystrophy." European Neurological Review 10, no. 01 (2015): 73. http://dx.doi.org/10.17925/enr.2015.10.01.73.

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Duchenne muscular dystrophy (DMD) is a rare X-linked recessive disorder that occurs in around one in 5,000 male births. The prevalence of DMD is expected to rise due to improved standards of care and implementation of guidelines, leading to longer survival. Specialist genetic confirmation of a DMD diagnosis is typically followed by access to specialist care and treatment: the exact DMD-causing mutation should be identified because it can influence prognosis and identify patients eligible for treatment. Since the majority of patients has a deletion or duplication of one or more exons (~70 %), g

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39

Bennett, N., C. Campbell, B. Porter, et al. "P.211 TREAT-NMD myotonic dystrophy Global Registry Network: Providing data in congenital myotonic dystrophy to support FDA regulatory decision making." Neuromuscular Disorders 32 (October 2022): S131—S132. http://dx.doi.org/10.1016/j.nmd.2022.07.373.

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40

Nicola, Daniele. "Biobanks and Clinical Research: An "Interesting" Connection." Annals of Cytology and Pathology 1, no. 1 (2016): 034–43. https://doi.org/10.17352/pjcp.000005.

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In our era, biobanks ensure preservation of specimens’ quality in short or long time storage. For each type of material and for each kind of organism, there is a specific preservation protocol. Actually, the efforts of single scientists or Institutions are not sufficient for research, especially in rare diseases field.The building of network that join together biobanks, research institutes, universities, pharmaceutical companies and patients’ associations answers to research’s needs. The creation of national and international networks had greatly contributed to share samples

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41

Barišić, N., I. Lehman, and P. Grđan. "Translational research in the diagnosis and therapy of hereditary muscular diseases and national registry of neuromuscular diseases." Paediatria Croatica 55, no. 2 (2011): 99–105. http://dx.doi.org/10.13112/pc.793.

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Translational research enables transfer (translation) of basic laboratory, preclinical research to clinical practice, whereas results of clinical practice induce and direct further basic research. In the treatment of hereditary muscle diseases, pharmacological agents are used, while gene and stem cell therapies are still in the phase of clinical or preclinical trials. Standardization of models for testing therapeutic approaches, definition of certain diseases and definition of criteria for assessing therapeutic protocols and treatment efficiency represent a rational basis for clinical applicat

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42

Clarke, Luka A., and Margarida D. Amaral. "What Can RNA-Based Therapy Do for Monogenic Diseases?" Pharmaceutics 15, no. 1 (2023): 260. http://dx.doi.org/10.3390/pharmaceutics15010260.

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The use of RNA-based approaches to treat monogenic diseases (i.e., hereditary disorders caused by mutations in single genes) has been developed on different fronts. One approach uses small antisense oligonucleotides (ASOs) to modulate RNA processing at various stages; namely, to enhance correct splicing, to stimulate exon skipping (to exclude premature termination codon variants), to avoid undesired messenger RNA (mRNA) transcript degradation via the nonsense-mediated decay (NMD) pathway, or to induce mRNA degradation where they encode toxic proteins (e.g., in dominant diseases). Another appro

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43

Liang, Xue-hai, Joshua G. Nichols, Cheryl L. De Hoyos, and Stanley T. Crooke. "Some ASOs that bind in the coding region of mRNAs and induce RNase H1 cleavage can cause increases in the pre-mRNAs that may blunt total activity." Nucleic Acids Research 48, no. 17 (2020): 9840–58. http://dx.doi.org/10.1093/nar/gkaa715.

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Abstract Antisense oligonucleotide (ASO) drugs that trigger RNase H1 cleavage of target RNAs have been developed to treat various diseases. Basic pharmacological principles suggest that the development of tolerance is a common response to pharmacological interventions. In this manuscript, for the first time we report a molecular mechanism of tolerance that occurs with some ASOs. Two observations stimulated our interest: some RNA targets are difficult to reduce with RNase H1 activating ASOs and some ASOs display a shorter duration of activity than the prolonged target reduction typically observ

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44

van Putten, Maaike, Annemieke Aartsma-Rus, Miranda D. Grounds, et al. "Update on Standard Operating Procedures in Preclinical Research for DMD and SMA Report of TREAT-NMD Alliance Workshop, Schiphol Airport, 26 April 2015, The Netherlands." Journal of Neuromuscular Diseases 5, no. 1 (2018): 29–34. http://dx.doi.org/10.3233/jnd-170288.

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45

Muntoni, Francesco, Kate D. Bushby, and Gertjan van Ommen. "149th ENMC International Workshop and 1st TREAT-NMD Workshop on: “Planning Phase I/II Clinical trials using Systemically Delivered Antisense Oligonucleotides in Duchenne Muscular Dystrophy”." Neuromuscular Disorders 18, no. 3 (2008): 268–75. http://dx.doi.org/10.1016/j.nmd.2007.11.010.

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46

Muntoni, F. "The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: Report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009." Neuromuscular Disorders 20, no. 5 (2010): 355–62. http://dx.doi.org/10.1016/j.nmd.2010.03.005.

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47

Finkel, Richard S., John W. Day, Darryl C. De Vivo, et al. "RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design." Journal of Neuromuscular Diseases 7, no. 2 (2020): 145–52. http://dx.doi.org/10.3233/jnd-190451.

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Background: Dramatic improvements in spinal muscular atrophy (SMA) treatment have changed the prognosis for patients with this disease, leading to important new questions. Gathering representative, real-world data about the long-term efficacy and safety of emerging SMA interventions is essential to document their impact on patients and caregivers. Objectives: This registry will assess outcomes in patients with genetically confirmed SMA and provide information on the effectiveness and long-term safety of approved and emerging treatments. Design and Methods: RESTORE is a prospective, multicenter

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48

Hollingsworth, Kieren G., Paulo L. de Sousa, Volker Straub, and Pierre G. Carlier. "Towards harmonization of protocols for MRI outcome measures in skeletal muscle studies: Consensus recommendations from two TREAT-NMD NMR workshops, 2 May 2010, Stockholm, Sweden, 1–2 October 2009, Paris, France." Neuromuscular Disorders 22 (October 2012): S54—S67. http://dx.doi.org/10.1016/j.nmd.2012.06.005.

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49

Li, Huixia, Chunli Wang, Ruochen Che, et al. "A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease." Journal of Clinical Medicine 12, no. 4 (2023): 1428. http://dx.doi.org/10.3390/jcm12041428.

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(1) Background: Autosomal recessive polycystic kidney disease (ARPKD) is a rare ciliopathy characterized by progressively enlarged kidneys with fusiform dilatation of the collecting ducts. Loss-of-function mutations in the PKHD1 gene, which encodes fibrocystin/polyductin, cause ARPKD; however, an efficient treatment method and drug for ARPKD have yet to be found. Antisense oligonucleotides (ASOs) are short special oligonucleotides which function to regulate gene expression and alter mRNA splicing. Several ASOs have been approved by the FDA for the treatment of genetic disorders, and many are p

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50

Salzman, Carl. "Treat the Patient, Not the Rule Book…" Journal of Nervous and Mental Disease 206, no. 5 (2018): 380–82. http://dx.doi.org/10.1097/nmd.0000000000000801.

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