A systematic review of moral reasons on orphan drug reimbursement

Zimmermann, B.M., Eichinger, J. & Baumgartner, M.R.; Orphanet J Rare Dis 16, 292 (2021). doi:10.1186/s13023-021-01925-y This study aims to provide a systematic analysis of moral reasons for and against such a special status for the reimbursement of OMPs in publicly funded healthcare systems from a multidisciplinary perspective. 

Results suggest that OMP reimbursement issues should be assessed and analysed from a multidisciplinary perspective. Despite the higher occurrence of reasons and articles in favour of a special status, there is no clear-cut solution for this ethical challenge. The binary perspective of whether or not OMPs should be granted special status oversimplifies the issue: both OMPs and rare diseases are too heterogeneous in their characteristics for such a binary perspective. Thus, the scientific debate should focus less on the question of disease prevalence but rather on how the important variability of different OMPs concerning e.g. target population, cost-effectiveness, level of evidence or mechanism of action could be meaningfully addressed and implemented in Health Technology Assessments.

Stealth BioTherapeutics Joins the Rare Disease Company Coalition

BOSTON, July 7, 2021 /PRNewswire/ -- Stealth BioTherapeutics Corp (Nasdaq: MITO). 

The Coalition will engage with policy stakeholders to advocate for impactful drug and healthcare policies and regulations currently under discussion, including prescription drug pricing, to highlight the consequences that blanket legislation can have on continued innovation for rare disease treatments.

The Cost of Living with Inherited Ataxia in Ireland

Mark J. Kelly, Petya Bogdanova-Mihaylova, Joshua Skeens, Sharon Moran, Sorcha Farrelly, Richard A. Walsh & Sinéad M. Murphy. Cerebellum (2021). doi:10.1007/s12311-021-01271-6 

Inherited ataxias carry high financial costs to the health system, patients, caregivers and society as a whole. Costs are similar between FRDA and other forms of inherited ataxia and grow as disability increases over the course of the illness. Indirect costs or ‘productivity losses’ make up half the COI and place a significant financial burden on patients. Despite this, there is evidence to suggest that certain clinical standards of care such as frequency of clinician review, OHP input and monitoring investigations are not being met, possibly reflecting the limited availability of resources. The results of this study advocate the need for greater funding in inherited ataxia care in Ireland to ease the financial burden on patients and improve resource availability.

Clinical trials: regulators’ inaction has left EU registry “riddled with inaccurate and missing data”

BMJ 2021; 374 doi: doi:10.1136/bmj.n1707 (Published 05 July 2021), Cite this as: BMJ 2021;374:n1707 

 Nearly 6000 clinical trial results are currently missing from the European trial registry, despite transparency rules requiring countries to upload results within 12 months of trial completion, a report has found. 

 Researchers from the University of Oxford said the findings show that medicines regulators in the 14 European countries included in the report have failed to ensure that important data on new drugs and vaccines are rapidly and consistently made public. 

 The report, published 5 July, found that the largest gaps were in Italy (1221 results missing), Spain (884), the Netherlands (839), France (698), and Germany (554).

Identifying the most potent and effective treatment of Friedreich ataxia

Brunel University London, Dr Mark Pook. 

This project aims to identify the most potent and effective known drugs to investigate treatment of the inherited disease, Friedreich ataxia, motivating pharma to fund more clinical trials. 

This international collaborative project between the Cortopassi, Giunti and Pook laboratories aims to test a number of differently-acting drug compounds to identify the most potent and effective known drugs to address Friedreich ataxia.

Molecular Details of the Frataxin-Scaffold Interaction during Mitochondrial Fe-S Cluster Assembly

Campbell CJ, Pall AE, Naik AR, Thompson LN, Stemmler TL.; Int J Mol Sci. 2021 Jun 2;22(11):6006. doi: 10.3390/ijms22116006. 

These details support a complex dynamic interaction between the FXN and ISCU proteins when both are part of the NIAUF complex and this provides additional insight into the coordinated mechanism of Fe-S cluster assembly.

Clinical Ethics Consultation in Neurology – a case series

Benjamin Ilse, Bernd Alt-Epping, Albrecht Günther, Jan Liman & Alfred Simon; BMC Neurol 21, 216 (2021). doi:10.1186/s12883-021-02244-2 

The concept of clinical ethics consultation (CECs) was implemented to provide support in ethical controversies in clinical settings and are offered in at least every second hospital in Germany. Neurological disorders often require complex decision-making. The aims of this study were to determine which situations lead to CEC in neurology and to investigate the influence of the individual patient’s wishes on the recommendation.

Friedreich's ataxia researcher Associate Professor Mirella Dottori has received a funding boost

JULY 2 2021, Associate Professor Mirella Dottori, a researcher at the University of Wollongong will receive $982,861 over three years from the Medical Research Future Fund (MRFF) and National Health and Medical Research Council (NHMRC) for her ground-breaking research into Friedreich's ataxia.

 

LEXEO Therapeutics Receives Rare Pediatric Disease Designation and Orphan Drug Designation for LX2006 for the Treatment of Friedreich’s Ataxia

NEW YORK, June 30, 2021 (GLOBE NEWSWIRE) -- LEXEO Therapeutics, a clinical-stage gene therapy company, today announced that the U.S. Food and Drug Administration (FDA) has granted Rare Pediatric Disease designation and Orphan Drug designation to LX2006 for the treatment of Friedreich’s ataxia (FA). LX2006 is an IV-administered, adeno-associated virus (AAV)-mediated gene therapy encoding the human frataxin gene. The designations granted to LX2006 cover cardiac disease and broader symptoms associated with FA.

LEXEO plans to initiate a Phase I/II clinical trial of LX2006 in patients with cardiomyopathy associated with FA in 2021.

Generation of transgene-free iPSC lines from three patients with Friedreich’s ataxia (FRDA) carrying GAA triplet expansions in the first intron of FXN gene

Simge Kelekçi, Deniz Uğurlu-Çimen, Deniz Ata, Burcu Özçimen, Abdullah Burak Yıldız, Mehmet Batuhan Karakuş, Esra Börklü Yücel, Tamer T. Önder, Stem Cell Research, 2021, 102438, doi:10.1016/j.scr.2021.102438. 

In this present study, we generated induced pluripotent stem cells (iPSC) lines from fibroblasts of three unrelated FRDA patients using integration-free episomal vectors. All iPSC lines express the pluripotency markers such as OCT4 and SSEA4, display normal karyotypes and can differentiate into all three germ layers via in vivo teratoma formation assay.