News & Updates

2019 Conference Attendee Feedback Needed!

Dear 2019 Conference Attendees,

I’m writing again to encourage you to complete the attached Survey Monkey survey, regarding your experience in Galveston earlier this month. To date, fewer than 60 individuals have done so.

I also have a suggestion! Take this opportunity to sit down with your children and to complete the poll with them individually.

You might be very surprised by their thoughts and feelings about their experience and their willingness to share with the survey as an “excuse” to do so. Obviously, you can skip over some sections.

Also, if you already pushed send on your own effort, you can not go back, BUT, if you’ve had additional thoughts/reflections, you can certainly send them to me, and we’ll see that they are recorded. Several have already done just that!

We really do appreciate the effort and we really do analyze and utilize the results. The deadline is extended to this Friday, May 31, midnight, USA Eastern Time.


Conference Registration Now Available!

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

Upcoming Alstrom Syndrome Multidisciplinary Clinic at Greater Baltimore Medical Center (GBMC) in September

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 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!!

Alström Syndrome in the News

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.