RESEARCH NEWS What's happening in the community? · IRCCS San Raffaele Scientific Institute in Milan, Italy Who: This event is open to the entire ECD community of patients, caregivers,

What's happening in the community?What's happening in the community?ECD GLOBALECD GLOBALALLIANCEALLIANCEJan/Feb/Mar Newsletter

What 's I nsideWhat 's I nsideResearch NewsMedical AwarenessRare Disease Day HighlightsItaly Event ReminderVolunteer Corner

RESEARCH NEWSRESEARCH NEWSGreat St udy Result s on Cobimet inibGreat St udy Result s on Cobimet inib

BRAF-negative patients have responded very wellto cobimetinib (a MEK-inhibitor). The article belowdocuments the results of the Memorial SloanKettering clinical trial. This is great news for the ECDcommunity, be sure to share with your care team! Thank you to all the patients and doctors for theirefforts towards this success!

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TRIAL DETAILSTRIAL DETAILS

Regist ry for Pat ient s wit h Erdheim-Chest er Disease - St illRegist ry for Pat ient s wit h Erdheim-Chest er Disease - St illRecruit ingRecruit ing

Memorial Sloan Kettering Cancer Center (MSK) serves as the trusted custodian ofa centralized database for ECD patient information and tissue biopsies. Thestored data will be available to investigators to allow ECD to be more readilystudied. The registry is designed to answer questions and provide information forinvestigators to find effective treatments.

MSK has enrolled 120 participants so far. Thank you to those who havededicated their information and time to this project. Please consider joining thisproject to help ECD research.

LEARN MORELEARN MORE

The FIRST paper using data from the above ECD Registry was just publishedentitled, “A scale for patient-reported symptom assessment for patients withErdheim-Chester disease.”

KEYPOINTSKEYPOINTS: (1) Collaboration among clinical experts, behavioral researchethodologists, and patients can yield valuable symptom-assessment tools. (2)Patients with ECD possess widely varied and unappreciated symptomatology.

Share this publication with your care team!

Thank you to our donors, th is is your dollars at work! Thank you to theThank you to our donors, th is is your dollars at work! Thank you to thepatients, we know your t ime and energy are precious and th is couldpatients, we know your t ime and energy are precious and th is couldnot be accomplished without you!not be accomplished without you!

SYMPTOMS PUBLICATIONSYMPTOMS PUBLICATION

3D cult ure of Erdheim-Chest er disease t issues unv eils hist iocyt e3D cult ure of Erdheim-Chest er disease t issues unv eils hist iocyt emet abolism as a new t herapeut ic t argetmet abolism as a new t herapeut ic t arget

As a result of the 2015 ECDGA-funded research project, the first paper on the useof the bioreactor technology for ECD was published in the Annals of theRheumatic Diseases. The work of the Milan Research Group has had a impactfulrole in the ECD community. Meet their team July 12, 2019 at the ECD event inMilan, Italy at IRCCS San Raffaele Scientific Institute Vita-Salute San RaffaeleUniversity! Read more...

In Case You M issed It:In Case You M issed It:

NEW Clinical Drug Trial in Houston, TXDabrafenib and Trametin ib in Treating Patients W ith Erdheim ChesterDabrafenib and Trametin ib in Treating Patients W ith Erdheim ChesterDisease W ith BRAF V600 MutationsDisease W ith BRAF V600 Mutations

Medical AwarenessMedical AwarenessENDO ExpoENDO Expo20192019

New Orleans,LA

PressPressReleaseRelease

At this annual endocrinologyevent, leaders in endocrinepractice and hormone researchshare their latest breakthroughsthat advance science and shapethe future of patient care. TheECD Global Alliance participatedin this exhibition to generateawareness of ECD, communicate the recent researchlandscape and new treatment opportunities for patients,and facilitate the growth of the ECD Global Alliancemedical professional network among interested physiciansand scientists.

Thank you to Dr. Fady Hannah-Shmouni, National Institutes ofHealth, and Dr. Carine Courtillot,University Hospitals PitiéSalpêtrière in Paris, for creatingendocrinology-relevant contentto provide. Also, thanks toAbigayle Brewer, our designvolunteer, for the design of theinformational materials providedat this event.

Thank you to the booth team forvolunteering your time andproviding expertise about ECD tophysicians and interested boothvisitors. Team (pictured L to R): Dr.Juvianee Estrada-Veras, ECDGABoard Member, Kathy Brewer,ECDGA President, and NancyFeely, Johns Hopkins Medicine.

Annual Patient Event in ItalyAnnual Patient Event in ItalyWhatWhat :The purpose of the Patient and FamilyGathering is to unite patients andfamily members, as well as increasetheir knowledge and understanding ofErdheim-Chester Disease.

WhenWhen: Jul 11, 2019 @ 6 - 8 PMJul 12, 2019 @ 9 AM - 5PM

WhereWhere:IRCCS San Raffaele Scientific Institutein Milan, Italy

WhoWho: This event is open to the entire ECDcommunity of patients, caregivers, andECD medical professionals, but weencourage international patients totake advantage of this rarelocation. Invite your doctor!

How t o regist erHow t o regist er : To register in English, follow this link:https://conta.cc/2Ew6dQ1. The earlyregistration fee of $100 will beextended to April 15!

For assist ance wit h t he EnglishFor assist ance wit h t he Englishformform, please respond to this emailwith your language preference to beput in contact with one of ourvolunteers.

Order your ev ent T -Order your ev ent T -shirt by A pril 17 t oshirt by A pril 17 t oensure you receiv eensure you receiv eit before your t rip!it before your t rip!

ORDER NOWORDER NOW

Rare Disease Day (RDD) HighlightsRare Disease Day (RDD) HighlightsCarol Lundin delivered educational material to localhealth institutions and spoke with the care teamsabout ECD. She also interviewed with the local newsto share her journey: North Sea Resident Refuses To LetRare Disease Stop Her From Enjoying Life

Richard Mortz, a Frenchmember, visited his localrally for RDD. He metother advocates, sharedabout ECD andsubmitted a poem. RDDVideo in French

Shannon, daughter andcaregiver to her momJoanne, raised RDD/ECDawareness and providededucation at her localYMCA.

Janet Bunge shared heramazing story of courageand strength with theECDGA! Read her storyhere.

Joe Lofaro dedicated his time gainingsupport from the state of Tennesseeand the city of Martin to officiallyrecognize Erdheim-Chester Diseaseand the rare disease community,sharing his story for local newscoverage, and organizing a fundraiserto benefit the ECDGA!See his news interv iew here.

Central Michigan University invitedJohn DeWitt and Amy Teare, anamazing ECD couple, to give a 45-minute presentation about ECD. Theyshared about the challenges ofdiagnosis and support with this raredisease, as well as a Q&A following. Thiscouple was also responsible for thestate of Michigan proclaiming RareDisease Day.

Rare Disease Day State Proclamations (with an emphasis on ECD) were awardedin Tennessee, Louisiana, and Michigan.

VOLUNT EER BI RT HDA Y CORNERVOLUNT EER BI RT HDA Y CORNERHappy Birthday to one of the first of many ECDGA volunteers,Mrs. Bridget Gates! Your willingness to help the team inwhatever is needed has been a tremendous contribution tothe day-to-day productions and overall service of theECDGA. We appreciate you!!

THA NK YOUTHA NK YOU to each of our members for making the ECDGApossible!

Together we will achieve great things for all affected by ECD worldwide!

ECD Global A lliance | P.O. Box 775, DeRidder, LAECD Global A lliance | P.O. Box 775, DeRidder, LAwww.erdheim-chest er.orgwww.erdheim-chest er.org | | fundECD.orgfundECD.org