To: Adult Patients (and their parents) with Alstrom Syndrome
From: Robin Marshall, Executive Director, Alstrom Syndrome International
Re: Upcoming Alstrom Syndrome Multidisciplinary Clinic at the Jan D. Marshall Center of Excellence for the Treatment of Alstrom Syndrome at Greater Baltimore Medical Center (GBMC).
Date: September 26 – 29, 2019

PLEASE NOTE: FOR THE FORESEEABLE FUTURE, THE FALL CLINIC WILL BE HELD THE LAST WEEKEND IN SEPTEMBER AND WILL BE FOR ADULTS (18+), WHILE THE MARCH CLINIC WILL BE HELD THE FIRST WEEKEND IN MARCH AND BE FOR PEDIATRIC PATIENTS (1 – 17). IN BOTH CASES ALL ARE WELCOME REGARDLESS OF NATIONALITY.

BACKGROUND: As many of you are probably aware, ASI realized the long-held dream of establishing an Alstrom Syndrome Center of Excellence at the Greater Baltimore Medical Center. Efforts for the first few years were designed specifically to familiarize a team of specialists with the Syndrome, its range and intensity of phenotypes, and to broaden the awareness of psycho-social issues which have been largely ignored. We have also focused on the assessment and possibilities of cochlear implantation for our kids. Another important goal has been to acquire and maintain consistent longitudinal data and to ultimately have multiple Centers geographically where new patients of any age can go and be supported early in the diagnostic process and then have an ongoing relationship.

ONGOING CONSIDERATIONS: Please be aware that the resources of both ASI and of GBMC are limited. Sadly, at present we can only accommodate 8 patient participants per Clinic, and first refusal is extended to NEW participants.

WHEN: September 26 – 29, 2019. The clinics/consultations will take place on Friday and Saturday, September 27 and 28, so children and their caregivers will arrive during the day on Thursday, September 26 and depart in the morning on Sunday, September 29.

WHO: For this particular Clinic we are seeking adult patients accompanied by a parent or a close experienced relative such as a grandparent. We are not really set up to incorporate younger siblings, but feel free to consult if you are really stuck.

WHERE: Sheraton Baltimore North (https://www.marriott.com/hotels/travel/bwins-sheraton-baltimore-north-hotel/) and Greater Baltimore Medical Center (https://www.gbmc.org/). In addition to sleeping rooms, we’ll have dedicated meeting and recreational space.

WHAT: We expect the following disciplines to be available: ENT, audiology, ophthalmology, genetics, gynecology, nephrology, cardiology, endocrinology, life coaching/psychology, and gastroenterology. Some topics may be addressed in a group setting and/or by a panel. Part of our time will include a thorough review of cochlear implantation and its possibilities for patients with AS. Basically, you/your child will have his/her own examining room, and the various docs will come directly to you.

COSTS: Parent/Caregivers/Patients are ONLY responsible for transportation to and from Baltimore. ASI will cover all other costs: transportation from the airport or train station both to/from the Sheraton North and to/from GBMC. Spacious and nicely appointed rooms with either one king or two queen beds will be arranged. All meals (b/l/d) will be provided. Most will be a la carte from the restaurant menu to accommodate individual tastes. There will be a banquet dinner on Friday to which all professionals will be invited. It is likely that the Pharmaceuticals with which ASI is working will be present. Depending on your insurance, in very rare instances, there may be a modest cost associated with a few tests. No one, and only a very few, has been charged more than $100 (USD).

MUST DO: If you wish to attend, you will need to provide GBMC with comprehensive medical records well AHEAD OF TIME and you will receive specific contact info about what is needed directly from GBMC.

WHAT NEXT?: If you are interested, immediately contact Robin at robin.marshall@alstrom.org OR call him at (207) 244-7043. Remember – new patients will receive preference but all are welcome to signify their interest and be considered if possible.

We would like to extend a invitation to all of our professional colleagues to review the 2019 conference information and request your input! Please visit the page below for details!

https://www.alstrom.org/a-call-to-our-professional-colleagues/

Conference Registration Is Now Available

Pay Now: Early Bird Special! Register by January 31, 2018 and receive a 10% discount on registration costs!

Register Now to enjoy the Early Bird savings!

Pay Later: You can also make registrations for paying later. The Early Bird Special does not apply to this registration method.

Register Now to Pay Later

Hotel Reservations Now Available!

Folks can now reserve your hotel rooms at The Hotel Galvez. Please be sure to read all details before attempting to reserve your room!

The Upcoming Alstrom Syndrome Multidisciplinary Clinic at Greater Baltimore Medical Center (GBMC), has been rescheduled for December 6 – 9, 2018.

If you have any questions, don’t hesitate to reach out to us.

PLEASE NOTE: THIS CLINIC WILL BE FOR THOSE 1 -12. Anyone is welcome! Information and consults will be in English. WE NEED TO HEAR FROM YOU BY July 20th!

BACKGROUND: As many of you are probably aware, ASI has realized the long-held dream of establishing an Alstrom Syndrome Center of Excellence. In what we hope will be the first of several additional centers, we have been working with Clair Francomano, MD at the Greater Baltimore Medical Center. Clair, a longtime friend and valued colleague of Jan’s, now serves as Chair of the Scientific Advisory Board of ASI. To date, we have held Clinics for members of the A-Team, for pediatric patients, ages 1-11 and for adolescents, ages 12 – 17.  These early efforts are designed specifically to familiarize a team of specialists with the syndrome, its range and intensity of phenotypes, and to broaden the awareness of psycho-social issues which have been largely ignored. We have also focused on the assessment and possibilities of cochlear implantation for our kids. Another important goal has been to acquire and maintain consistent longitudinal data and to ultimately have Centers where new patients of any age can go, be supported, and avoid being confronted with ignorance about the Syndrome. Caregivers and adult patients will receive written comprehensive notes, specific recommendations, and any test results generated.

ONGOING CONSIDERAIONS: Please be aware that the resources of both ASI and GBMC are limited. Sadly, at present we can only accommodate 8 participants per Clinic, and priority is extended to NEW attendees. Anyone not selected for this clinic will still be eligible to attend future age appropriate opportunities based on medical history, specific medical issues, and the availability of specialty physicians, who donate their time and expertise. “Veterans” of previous clinics SHOULD let me know if interested.

WHO: For this particular Clinic we are seeking younger pediatric participants (aged 1-12) accompanied by a parent or parents or a close experienced relative such as a grandparent. We are not really set up to incorporate healthy siblings, but feel free to consult if you’re stuck.

WHEN: September 13 – 16. The clinics/consultations will take place on Friday and Saturday, September 14 and 15, so participants and any care-givers will arrive during the day on Thursday, September 13 and depart in the morning on Sunday, September 16.

WHERE: Sheraton Baltimore North Hotel and Greater Baltimore Medical Center. In addition to sleeping rooms, we’ll have dedicated meeting and recreational space.

WHAT: We expect the following disciplines to be available: ENT, audiology, ophthalmology, genetics, nephrology, cardiology, endocrinology, life coaching/psychology, and gastroenterology. Part of our time will include a thorough review of cochlear implantation and its possibilities for patients with AS. During the Saturday multi-disciplinary clinic, you will have your own examining room, and the various docs will come directly to you. Nice change for most!

COSTS: Parent/Caregivers/Patients are ONLY responsible for transportation to and from Baltimore. ASI will cover all other costs: transportation from the airport or train station both to/from the Sheraton and to/from GBMC. Rooms will be arranged. All meals (b/l/d) will be provided. Most will be a la carte from the restaurant menu to accommodate individual tastes. There will be a “banquet dinner” either Friday or Saturday evening depending on the availability of the professionals involved. Depending on insurance, in rare instances there may be a modest cost associated with a few tests. In all previous clinics, no one has been charged more than $100 (USD).

MUST DO: If you wish to attend, you will need to provide GBMC with comprehensive medical records well AHEAD OF TIME, and you will receive specific contact info about what is needed directly from GBMC.

WHAT NEXT?: If you are interested, please contact Robin by email at robin.marshall@alstrom.org OR call him at (207) 244-7043. Please –  email (NOT facebook!!!) is best. We need to hear from you ASAP but no later than July 20!!

Rhythm Pharmaceuticals Announces New Topline Clinical Data from Ongoing Phase 2 Basket Studies Evaluating Setmelanotide in Rare Genetic Disorders of Obesity

• Further Improvements Observed in Bardet-Biedl Syndrome Patients; Initial Proof-of-Concept Data in Alström Syndrome Demonstrates Significant Weight Loss and Decreased Hunger
• Rhythm Plans to Initiate Combined Pivotal Phase 3 Trial in Bardet-Biedl Syndrome and Alström Syndrome in 2018
  
• Preliminary Data in Patients with POMC and Other MC4 Pathway Heterozygous Deficiency Obesities and POMC Epigenetic Disorders Demonstrate Clinically-Meaningful Reductions in Weight and Hunger

Read the full press release on Rhythm Pharmaceuticals’ website.