Raredr

Major New AHC Study Published with AHCF Help

AHCF
Published Online: Friday, Mar 17, 2017
Last month, we celebrated Rare Disease Day, a day to raise awareness about AHC among the general public and decision-makers. There were many of you in the AHC community who also did your part and shared your AHC story.
 
Momentum is always essential to any organization to keep raising awareness, moving research forward, and to find answers which ultimately lead to a treatment and a cure for AHC. Thanks to everyone, the AHCF is continuing forward with such momentum.
 
On March 2, 2017, an article was published in Neurology Genetics titled, “Research Conference Summary from the 2014 International Task Force on ATP1A3-Related Disorders.” Authors of the study include 9 members of the AHCF Medical Advisory Board and 5 members of the AHCF Board of Directors.
 
In 2014, the AHC Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with ATP1A3-related disorders.
 

Workshop attendees were charged with the following:
 
1) to achieve consensus on expanded diagnostic criteria to facilitate the identification of additional patients, intended to supplement existing syndrome-specific diagnostic paradigms; (
 
2) to standardize definitions for the broad range of paroxysmal manifestations associated with AHC to disseminate to families; (
 
3) to create clinical recommendations for common recurrent issues facing families and medical care providers;
 
4) to review data related to the death of individuals in database to guide future efforts in identifying at-risk subjects and potential preventative measures; and
 
5) to identify critical gaps where we most need to focus national and international research efforts.
 

This report summarizes recommendations of the workshop committee, highlighting the key phenotypic features to facilitate the diagnosis of possible ATP1A3 mutations, providing recommendations for genetic testing, and outlining initial acute management for common recurrent clinical conditions, including epilepsy.
 
The full article can be found at: http://ng.neurology.org/content/3/2/e139.short


Latest Articles
The FDA Advisory Committee voted 10-to-3 in favor of approving Endari (L-glutamine) for sickle cell disease.
Nabila Bouatia-Naji, PhD of INSERM talks about the genetics of fibromuscular dysplasia (FMD) and the studies she is involved with to better understand this rare condition.
The small girl who got pulled into the harbor by a sea lion this week may have seal finger, a rare infection resulting from the encounter.
A new study by Hughes et al indicates long-term use of Vimizim (elosulfase afla) in adults with Morquio A is effective and provides those patients with increased strength and endurance to tackle their daily activities.
$vacMongoViewPlus$ $vAR$