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Alagille Syndrome Overview

Alagille Syndrome is a rare genetic disorder that can affect the liver, heart, and other parts of the body. Approximately one in every 70,000 children is born with Alagille Syndrome. In patients with Alagille Syndrome, the bile ducts are abnormally narrow, malformed and reduced in number. This prevents the bile ducts from carrying bile, which helps to digest fats, from the liver to the gallbladder and small intestine.

[Courtesy of Lumena - posted online: http://lumenapharma.com/products/cholestatic-liver-disease/alagille-syndrome-algs/]

Lumena Pharmaceuticals Secures Funding

SAN DIEGO – May 8, 2013 – Lumena Pharmaceuticals, a company developing oral therapeutics for rare liver diseases, today announced the company has secured $23 million in Series A financing. Investors include Pappas Ventures, RiverVest Venture Partners and Alta Partners. Founded in 2011 by Pappas Ventures, Lumena will primarily use the funding to advance the clinical development of LUM001, the company’s lead product candidate for the treatment of cholestatic liver disease in pediatric and adult patients.

Study Sheds Light on Choleastic Pruritus in ALGS Patients

The Journal of Pediatric Gastroentology and Nutrition reports that a recent study reveals some interesting facts about the management of Choleastic Pruritus in ALGS patients.

The study aim was to perform a retrospective observational review of the current management and outcome of cholestatic pruritus in children with Alagille syndrome at King's College Hospital and to use results to inform appropriate guidelines.

The study used a retrospective review of 62 patients diagnosed with Alagille syndrome from January 1995 until November 2010 treated at King's College Hospital, was performed. The departmental database of the Paediatric Liver Centre was searched to identify all patients and the clinical records were then analysed.

The results revealed Fifty one (82.3%) patients suffered from pruritus and 50 (80.6%) received anti-pruritic medication. Ursodeoxycholic acid was the most prescribed drug (n = 40). Other drugs prescribed were rifampicin (n = 39), cholestyramine (n = 18), naltrexone (n = 14), alimemazine (n = 13), non sedating antihistamine agents (n = 7), ondansetron (n = 5) and phenobarbitone (n = 1). Albumin dialysis employing molecular adsorbent recirculation system was used in one patient. Sixteen patients (25.8%) were listed for liver transplantation, 11 had undergone transplantation by November 2010.

Read the entire abstract and sign in to read the entire paper at the Journal of Pediatric Gastroentology and Nutrition website.

How to Find a Disease Specialist

Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, the guidelines below include several ways to identify healthcare professionals who have experience with a particular condition. Potential resources include patient advocacy groups, researchers who have conducted or are conducting clinical trials, and authors of articles published in the medical literature.

We are providing these resources to assist you in your search; however, sometimes it will not be possible to find a healthcare provider who has extensive experience in a particular rare condition. At the bottom of this fact sheet, we have provided some suggestions to help you when you are still unable to locate an expert after researching these resources.

The GARD Information Center provides these resources for informational purposes only and not as an endorsement of services. You should use your own judgment when evaluating a healthcare professional. You can find helpful information on choosing quality health care from the Agency for Healthcare Research and Quality (AHRQ).

Little Freddie McDonald could be forced to spend a lifetime on medication

Little Freddie McDonald could be forced to spend a lifetime on medication after he was diagnosed with a rare liver condition. The cute tot, who is just seven months old, was diagnosed with Alagille syndrome, which is a rare chronic liver disease. There is just a one in 100,000 chance of suffering from the genetic condition which could result in the youngster needing a liver transplant. His parents Emma and Phil noticed that Freddie looked jaundiced after his birth. After four weeks Freddie was taken for tests and after six months his parents were told that the tot had the condition, which could lead to problems with his heart and kidneys.Mum Emma, 33, from Ossett, said: “When you’re expecting a baby you take it for granted that you have got a perfectly healthy baby. “Nothing can prepare you and it’s life changing. “It’s a very rare disease. “It’s a lifelong illness and there is no cure. “No-one can tell us what will happen. We hope he’s as happy as any other child. “The main thing was why had it happened to us and it’s hard to come to terms with.” Emma’s brave sister Lizzie Parker and her sister-in-law Linsey McDonald are set to jump out of a plane to raise money for the Children’s Liver Disease Foundation in May. The pair have already raised over £4,000 for the charity that supported the McDonalds. The Foundation recently held a special family day in Guiseley for families whose children have liver conditions. The day allowed Freddie and his older brother Louie, three, to spend quality time with their parents. Emma added: “I wouldn’t have been able to get through it without our family and friends.” To donate visit www.justgiving.com/Freddiejack.

(article courtesy of The Yorkshire Evening Post: http://www.yorkshireeveningpost.co.uk/news/latest-news/top-stories/family-speak-of-tot-s-rare-liver-condition-1-5593044).

Spinner and Krantz Receive Huge Honor

Drs. Nancy Spinner and Ian Krantz, scientists at the Children’s Hospital of Philadelphia/University of Pennsylvania, have been nominated for the 2013 Time Top 100 Most Influential People list! Nancy Spinner was one of the principle scientists who discovered the gene for Alagille Syndrome and is on the Alagille Syndrome Alliance Medical Advisory Board. Nancy and Ian absolutely deserve this nomination for their lifelong dedication to genetics, rare/orphan disease, and quality of life of those, especially children, affected by these conditions!

Here’s a link to the Time article featuring Nancy and Ian: http://healthland.time.com/2012/10/25/what-your-doctor-isnt-telling-you-about-your-dna/

Latest Links4Life newsletter now available

You can now view and download the latest issue of our newsletter, Links4Life, right here. Click the link below. Enjoy!

Links4Life - January - March 2013

Victoria Sanchez Montano is fighting for her life

She was born with alagille syndrome, an extremely rare genetic disorder that has severely damaged her liver. As a child, she lived in another country, and her doctor there said she needed to go to Cuba, Canada or the United States for more in-depth medical care. She and her family went to Cuba, where they learned of her diagnosis. Now living in the United States, doctors say a liver transplant is essential to her survival.

Despite her health challenges, Veronica is optimistic about her future. She relies on her loving support system of family and friends and her strong faith to stay positive. She can’t participate in any strenuous activities, as even walking for more than 20 minutes at a time is difficult, but she loves to draw, write and listen to music. Veronica refuses to let alagille syndrome hold her back, as she truly believes that every obstacle and experience will make you stronger. She looks forward to overcoming this health battle so she can lead a healthy, active life. She dreams of finishing school and starting a career, but right now, she needs your help.

Unfortunately, Veronica’s hope for a new life comes at a very high price.

The average liver transplant costs approximately $575,000. Even with health insurance, which will cover the cost of the transplant itself, she still faces significant medical expenses related to the surgery. She will need a lifetime of follow-up care and daily anti-rejection medications. These medications are very costly, and they’re as important to her survival as the transplant itself.

What if your life depended on the compassion and generosity of others?

The National Foundation for Transplants (NFT) is working with volunteers and supporters to help relieve the growing burden of expenses for Veronica. NFT has been assisting transplant patients with advocacy and fundraising support for 30 years. Your gift—of $25, $50, $100 or more—will enable NFT to provide Veronica with the financial support she desperately needs.

You can help by visiting http://patients.transplants.org/veronicasanchezmontano to make a tax-deductible donation to NFT in her honor.

If you have any questions about NFT, feel free to contact the staff at 800-489-3863.

Donations sought to help Redondo girl in need of liver transplant

Donations are being sought to help pay for a liver transplant for a 4-year-old Redondo Beach girl. Volunteers are attempting to raise $50,000 through the Children’s Organ Transplant Association (COTA) to help defray transplant-related expense for the family of Rainy Reimer, who has been diagnosed with Alagille Syndrome. She is the daughter of James Reimer and Windy Morrisey.