JICNAR○| Journal of the International
Child Neurology Association
A peer reviewed open access e-journal in Child Neurology
Position Statement:Emerging genetic therapies for rare disorders
Pauline Samia
1, Adam Kirton2, Russell Dale3, Silvia Tenembaum
4, Chahnez Charfi
Triki
5,Anaita Hegde
6,Richard Idro7,Edward Kija
8,Jo M Wilmshurst
9,Ingrid Tein10,Haluk
Topaloğlu11
1Aga Khan University, Nairobi, Kenya;2University of Calgary, Alberta Children’s Hospital, Canada;
3The Children’s Hospital at Westmead, The University of Sydney;4Department of Neurology,
National Paediatric Hospital Dr. J.P. Garrahan Buenos Aires;5Faculté de Médecine de Sfax,
Université de Sfax, Sfax;6Jaslok Hospital and Research Centre, Mumbai;7Department of Pediatrics
and Child Health, Makerere University College of Health Sciences;8Muhimbili University of Health
and Allied Sciences, University of Dar es Salaam, Tanzania;9University of Cape Town, South Africa;
10University of Toronto, Canada;11Hacettepe University School of Medicine in Ankara, Turkey.
Corresponding author: Pauline Samia; Email: pauline.samia@aku.edu
Received: 03 June 2019
Accepted: 25 July 2019
Abstract
Emerging genetic therapies for rare disorders at high cost, cannot realistically address the global burden of disease.
Stakeholders must develop new pathways to ensure safe, fair and sustainable provision of such therapies.
Kewords: rare disorders, gene therapy, position statement.
© Samia P; licensee JICNA
[5]. These are mainly based on the following independent
Emerging genetic therapies for rare
factors. First, clinical studies are conducted on a narrowly
disorders
defined group with a minimal number of cases (usually less
than 200), but the therapy is expected to be applied to a
A disease or disorder is defined as rare in Europe when it
more diverse population. For example, a molecule has been
affects fewer than 1 in 2000 peopleand based on the Food
approved by the FDA in all types of a given rare genetic dis-
and drug admistration (FDA) definition from the US, when
order, however the original study was only conducted in ba-
it affects less than 200,000 at any one time. Genetic factors
bies less than 6 months of age [1][6]. Secondly at this time
contribute to the etiology in 80% of those with rare dis-
the adverse effects portfolio in relation to these treatments
eases, and other contributing factors, including infection,
is still accumulating, adequate data may not be available on
account for the remaining the cases. The recent emergence
chronic and late stage forms of disease, and uncertainities
of gene technologies has led to the development of ther-
exist regarding long term benefits [2][3][4]. The third is-
apies to treat some of the once incurable diseases. Cur-
sue is related to cost regulation. These drugs are extremely
rently, there are more than 230 gene therapy efforts such
expensive costing up to several million dollars which places
as splicing modifiers, exon skipping protocols, monoclonal
governmental bodies and health care providers in a diffi-
antibodies, and several ‘molecular plaster’ studies. Increas-
cult position financially based upon the cumulative cost of
ing numbers of these therapies are being demonstrated to
several hundred re-imbursements every year causing a true
show benefit and are being approved by health care author-
burden on the health economy globally [5][7]. Last but not
ities leading to availability in the market [1][2][3][4].
least is the issue of the expectations of families which may
However, although these discoveries have provided the
not match with the study end points. In other words, ‘End
real possibility of treatment and cure to previously con-
point goals’ of patients and families in terms of clinically
sidered untreatable and often life-limiting diseases, at this
relevant outcomes and improvements in quality of life may
point several concerns have arisen including primarily the
differ significantly from those included in study protocols
high cost, access to the intervention and the potential risks
1