Friday, December 23, 2016

Global Genes is hosting the first-ever RARE in the Square event in San Francisco! See the announcement below for details! A Unique Partnering Opportunity for Rare Disease Innovators January 9th – 11th, 2017

Global Genes is hosting the first-ever RARE in the Square event in San Francisco! See the announcement below for details!
A Unique Partnering Opportunity for Rare Disease Innovators
January 9th – 11th, 2017

A Catalyzing RARE Community Event
Global Genes is pleased to announce the first-ever RARE in the Square (RITS) hosted January 9 -11, 2017 in San Francisco’s Union Square. The inaugural RITS will coincide with the JP Morgan Healthcare Conference (JPM), creating the opportunity for rare disease focused companies and organizations to network at the epicenter of JPM-related activities in a unique, one-of-a-kind space.
The focus on rare disease innovation continues to increase at the JP Morgan Healthcare Conference. “The rare community involvement and representation at the JPM Healthcare Conference is growing annually,” comments Nicole Boice, CEO and Founder of Global Genes. “However, the rare disease community’s true presence and impact hasn’t been represented at its fullest – until this year. That is why we are so thrilled for the opportunity to partner in conjunction with JPM to provide the much-needed collaborations and visibility in support of rare disease innovation.”
Located in the heart of San Francisco and across the street from The Westin and JPM conference, Union Square provides a unique, distinctive and convenient location. This space lends RITS a platform where investors, industry partners and patient community leaders can connect, network or even just relax amongst fellow rare enthusiasts.
“Patients and their families are the most powerful drivers of the orphan drug development process. They allow us to understand the purpose, the urgency. They allow us to focus and to explain to the many parties involved. They allow us to acquire the passion to succeed and to never give up… Nothing is more important.” – Henri Termeer, Former Chairman, President and CEO, Genzyme Corporation

Wednesday, December 21, 2016

Alnylum Pharmaceutical UPDATE

At the request of Desiree Lyon:
Alnylum Pharmaceutical has nearly completed Phase I of the new porphyria drug ALN-AS1 with very promising results. Alnylum specializes in RNA interference (RNAi) treatments which target specific cells that are the root cause of various diseases. Alnylum targets rare diseases that currently have limited treatments, especially blood disorders such as hemophilia and acute porphyria.
Researchers and doctors worldwide agree that porphyria is an extremely rare genetic disease in which the patient does not properly produce heme, an important molecule in blood, which causes a build up of naturally occurring neurotoxins ALA and PBG. These neurotoxins build up in the liver and eventually spill into other areas of the body causing a variety of symptoms including severe abdominal pain, nausea, vomiting, constipation, diarrhea, painful body aches, muscle weakness, paralysis and in some cases psychosis, encephalopathy and death.
ALN-ASI or Givosiran (gi-VOH-sir-an) targets liver cells that are responsible for heme production and the root cause of acute porphyria. By attaching an RNAi to a sugar molecule, Givosiran goes directly to the liver cells where it slows down heme production. Early results show a 74% decrease in ALA and PBG buildup and a 74% decrease of porphyria attacks in patients. There has only been one adverse event reported and that is skin irritation at the injection site. This is a very common occurrence with any injection treatment. Givosiran is injected once every 4 weeks using the same procedure diabetics use to inject insulin. Potentially, Givosiran will be able to be self-administered at home and not require a doctor's appointment.
The results have been so promising, Alnylum believes it can safely bypass Phase II testing and will be seeking this exception from the Food and Drug Administration (FDA) in early 2017 in hopes of starting large scale human trials (Phase III) by the end of 2017.
Alnylum did extensive patient research before developing the drug and discovered how limited current treatments are for porphyria patients. Panhematin has been the most widely used treatment for acute porphyria patients and has been in use for over thirty years. It requires 3 to 11 intravenous treatments over consecutive days during acute attacks or can be used prophylactic requiring patients to receive the treatment anywhere from once a month to twice a week. Treatments take up to an hour and usually require patients to have an intravenous access port surgically installed. It is extremely exciting to see a company take a modern medicine approach to treat a disease that affects nearly 5,000 patients worldwide.
Alnylum believes Givosiran has the potential to greatly reduce or eliminate the rarely spoken about chronic aspects of porphyria, the frequency and severity of attacks, as well as reducing the risk of liver cancer which is common in long time sufferers of porphyria.
The American Porphyria Foundation (APF) has played an important role in helping Alnylum develop Givosiran. By creating the Porphyria Consortium, Alnylum was able to move quickly through the research and expert recruitment phase of the drug development. The APF has assisted Alnylum recruit patients as well as asymptomatic high excreters of ALA and PBG who volunteered for Phase I. In addition, The APF has sent porphyria patients to meet with the development teams at Alnylum to provide insight into battling porphyria on a daily basis as well as providing advice to help recruit patients for Phase III and address concerns they may have. Finally, the APF will play a critical role in assisting the recruitment of the more than 100 patients worldwide to participate in Phase III.

Monday, December 19, 2016

Are you prepared for a widespread disease or epidemic?

How to Reduce Your Risk During an Epidemic

A woman washes her hands
In 2014, the Ebola virus spread rapidly throughout West Africa, making headlines around the world. 
  • A presentation
    How did you help people to understand the danger they faced?
    We sought to dispel fear and confusion by making special presentations at public places. In those presentations, we explained how the virus spreads and warned against unsafe practices.
  • Washing hands
    What practical steps were taken?
    We used infrared thermometers to check the temperature of those arriving for meetings at our places of worship. Everyone carefully avoided unnecessary physical contact, such as shaking hands or hugging, and washed their hands frequently throughout the day. At strategic locations throughout the communities, handwashing stations were set up with a bleach solution.
  • A telephone inside a house
  • A calendar
    What happened if someone showed symptoms?
    Authorities were notified. Any individuals who had been in contact with an Ebola victim, had attended a funeral of a victim, or showed symptoms kept themselves isolated for 21 days, the commonly accepted maximum incubation period for the Ebola virus.

Friday, December 16, 2016

Protect Yourself From Disease


Protect Yourself From Disease


MANY ancient cities were protected by massive walls. If an enemy breached just a small section of a wall, the safety of the entire city was at risk. Your body is like a walled city. How you care for your defenses has much to do with how healthy you are. Consider five elements that can expose you to disease and how you can put up the best possible defenses.
A woman and her daughter walk through a market

1 WATER

THE THREAT: Harmful organisms can “march” straight into your body by way of contaminated water.
YOUR DEFENSE: The best defense is to protect your water supply from contamination. If you know that your water supply is contaminated or suspect that it is, you can treat the water at home to make it safe. * Store potable water in a closed vessel, and dispense it hygienically with a clean ladle or through a tap. Never put your hands into a clean water supply. If possible, you should try to live in a community that properly disposes of human waste so that it does not contaminate local water sources.

2 FOOD

THE THREAT: Harmful organisms can be present in or on your food.
YOUR DEFENSE: Contaminated food may look fresh and nutritious. So get into the habit of thoroughly washing all fruits and vegetables. Ensure that food utensils, kitchen surfaces, and your hands are clean when preparing or serving food. Some foods require cooking at a certain temperature in order to destroy dangerous microbes. Beware of food that is discolored or has an unpleasant odor or taste—signs that an army of microorganisms could be waiting for you. Refrigerate unused food as soon as possible. Avoid preparing food for others when you are sick. *

 3 INSECTS

THE THREAT: Some insects can infect you with the harmful microorganisms that live inside them.
YOUR DEFENSE: Limit contact with disease-carrying insects by staying indoors when they are active or by wearing protective clothing, such as long sleeves and long trousers. Sleep under treated insect nets, and use personal insect repellent. Eliminate containers of stagnant water where mosquitoes could breed. *

4 ANIMALS

THE THREAT: Microbes that live harmlessly inside an animal can threaten your health. If you are bitten or scratched by a pet or another animal or exposed to its feces, you could be at risk.
YOUR DEFENSE: Some people choose to keep their animals outside the house to minimize contact with them. Wash your hands after touching a domestic animal, and avoid all contact with wild animals. If you are bitten or scratched, wash the wound thoroughly and seek a doctor’s advice. *

5 PEOPLE

THE THREAT: Some germs can invade your body by riding on tiny droplets in someone’s cough or sneeze. They can also spread through skin contact, such as hugging or shaking hands. Microorganisms from other people may lurk on such items as doorknobs, handrails, telephones, remote controls, or computer screens and keyboards.
YOUR DEFENSE: Do not share personal items, such as razors, toothbrushes, or towels. Avoid contact with body fluids from animals or from other people, including blood and products derived from blood. And do not underestimate the benefits of washing your hands thoroughly and frequently. It is perhaps the most effective way you can stop the spread of infection.
If possible, stay home when you are sick. The U.S. Centers for Disease Control and Prevention recommends that you cough or sneeze into a tissue or your sleeve, but not into your hands.
An ancient proverb states: “The shrewd one sees the danger and conceals himself.” How true are those words today in a world plagued with potentially dangerous diseases! So inform yourself by consulting local health services, and conceal yourself from danger by practicing good hygiene. Bolster your defenses, and reduce the risk of disease!

Wednesday, December 14, 2016

Disease—How to Reduce The Risk


Disease—How to Reduce The Risk

Every day your body wages war against enemies that are silent and unseen but potentially deadly. Foreign invaders, such as bacteria, viruses, and parasites, threaten your health. * You are not likely to be aware of those battles because your immune system repels or destroys most of the invaders before the onset of symptoms. Sometimes, however, the harmful germs gain the upper hand. If so, you may need to bolster your defenses with medicine and other treatments.
Various causes of disease, including travel, microscopic organisms, poverty, and improperly prepared food
For thousands of years, people knew virtually nothing about the dangers of microscopic or other small harmful organisms. However, when 19th-century scientists confirmed the link between germs and disease, we became better equipped to defend ourselves. Medical researchers have since eliminated or greatly reduced the threat of some infectious diseases, including smallpox and polio. Recently, however, others, such as yellow fever and dengue, have made a comeback. Why? Consider these factors:
  • Every year, millions of people travel around the globe, often transporting disease-causing agents. According to an article in the journal Clinical Infectious Diseases, “virtually all of the contagious virulent infections” can be spread by international travelers.
  • Some bacteria have developed resistance to antibiotics. “The world is heading towards a post-antibiotic era, in which common infections . . . can once again kill,” states the World Health Organization.
  • Civil unrest and poverty often hinder government efforts to control the spread of disease.
  • Many people lack practical knowledge of how to prevent disease.
Despite these disturbing trends, there is much you can do to protect yourself and your family. The following will show that, even if you live in a developing land, simple and effective strategies may be within your reach.

Friday, December 9, 2016

EPP Online docket Question's for FDA

Following the FDA meeting for EPP that was held in October, the FDA opened an online public docket for EPP people to submit comments.  This docket is open to attendees of the meeting AND those that were unable to attend in person.  The FDA is particularly interested in hearing patients' perspectives on the questions discussed during the workshop.  These questions are pasted below for your reference.  If you have any questions, please email meghana.chalasani@fda.hhs.gov.

Comments MUST be submitted by December 24, 2016.  Submit your comments through this website: 

The FDA has also posted a full recording of the EPP meeting.  You may view the recording here: 



Discussion Questions

1.  Of all the symptoms that you experience because of your condition, which 1-3 symptoms have the most significant impact on your daily life? (Examples may include itching, burning, pain, scarring, etc.)
2.   Are there specific activities that are important to you but that you cannot do at all or as fully as you would like because of your condition? (Examples of activities may include daily hygiene, work and school performance, participation in sports or social activities, etc.)
3.    How have your condition and its symptoms changed over time?
4.   What are you currently doing to manage your condition or its symptoms? (Examples may include prescription medicines, phototherapy, over-the-counter products, and other therapies including non-drug therapies such as limiting exposure to sun, diet modification, etc.)
a.     What specific symptoms do your therapies address?
b.    How has your treatment regimen changed over time, and why?
5.    How well does your current treatment regimen control your condition?
a.     Would you define your condition today as being well managed?
6.    Assuming there is no complete cure for your condition, what specific things would you look for in an ideal treatment for your condition?
a.   What would you consider to be a meaningful improvement in your condition (for example specific symptom improvements) that a treatment could provide?







"Remember....Research is the key to your cure!"



Monday, December 5, 2016

AIP & Life story of Claire Sadoniczak

Claire Sadowniczak

Type of Porphyria: 
Acute Intermittent Porphyria (AIP)

Claire Sadowniczak of Orlando, Florida, is a member of the APF. She keeps the group encouraged and laughing. Her stories about her turtle Alamo are sheer delight and lessons in tenacity for all of us.
My mother and I have AIP; I started attacks at age 11. One thing that gives me great pleasure is rescuing a wild animal, nursing it back to health and releasing it back into the wild. One rescued 5" brown and black Florida mud turtle left me a present, an egg. It hatched on a freezing day, so I couldn't release it. The black hatchling was smaller than a dime, the shell still soft when I picked her up. I carried her in the palm of my hand as I was preparing a tank of gravel with a plastic sour cream lid as her "pond". We went to the pet store to try to find food small enough for her. They said I'd never keep her alive and she's now 11 years old. When I finally put her into her tank, she ran to the front glass begging me to pick her up again. She ignored my screaming Pomeranian who was jumping up and down in front of her tank. I named her Alamo for her courage in the face of danger.
Water turtles do not have salivary glands or pulmonary muscles to swallow air to breathe. After being out of the water awhile, her mouth dries out and her beak "squeaks". When this occurs, I put her back into her pond. Once I picked her out of her pond and put her on hubby's lap, so I could clean her tank. She doesn't like him so she began squeaking her beak when I left the room, begging to get off his lap!
She potty-trained herself, too. I kept a towel on my lap when I held her. She realized that I didn't like her mess and hasn't had an accident since she was six months old. She just squeaks her beak to ask to go back into her tank.
I feed her with a plastic spoon. Since she is in the snapping turtle family, I didn't want her to associate fingers with food. She'll swallow anything presented on a spoon, including medicine and will follow a spoon anywhere! She also loves TV and gets very involved. If a car explodes on a show, she'll open her mouth at the TV.
Once she had a respiratory infection; turtles can catch colds from people. The vet told me to add a heater and thermometer to her tank to keep the water at 80 degrees. She did not like either, popping the heater off its rubber suction cups and bashing it and the thermometer against the rocks till I removed them. It is HER home after all.
Alamo enjoys being an only child and will attack a mirror until it is removed. Although the breed is supposed to be "vicious", she is a sweety with me. She once saw a piece of shiny fuzz on my sweater that she wanted to eat. She very gently tried to get it with the side of her mouth so she would not accidentally bite me through the sweater.
I carry her around under the hem of my T-shirt or in a pocket for hours, and her little head comes out like a periscope to look around. She sits on my lap in the car. In the vet's office, Alamo watches the other animals from my lap and feels quite safe and content. I put her on the grass in the back yard for exercise, and she runs straight back to me. Definitely a lap turtle!
Alamo's Mother, Claire Sadowniczak
Prior to my diagnosis of Acute Intermittent Porphyria, I underwent abdominal surgery with sodium pentothal, went into cardiac arrest and a three month major porphyria attack. Therefore, when I learned that I needed gallbladder surgery, I was very nervous.
I found a general surgeon, Dr. Cesar Cabascango, who is not only familiar with porphyria, but I was his fifth patient with porphyria. Normally, with the laproscopic gallbladder procedure, you have surgery the same day as admission and go home the following morning. Because of my porphyria, Dr. Cabascango had me admitted the day before surgery, opened a central line with three ports in my chest, and infused large doses of dextrose. He continued to infuse dextrose during surgery and for an additional two and a half days in the hospital after surgery. By faxing information on porphyria to my insurance company, he even got them to approve the additional stay in the hospital. I did not suffer a porphyria attack whatsoever.
The surgery was performed at Florida Hospital Orlando. The Assistant Director of Anesthesiology handled my case personally, and brought me through the procedure with no problems. Everyone at the hospital researched porphyria, read the brochures from the American Porphyria Foundation that I provided, questioned me about it, and treated me with such special care that it was my most positive hospital experience ever.
Many people with porphyria have horror stories about past medical care, including myself, but things are improving and the brochures provided by the American Porphyria Foundation are a great benefit when distributed to health care professionals.

Important EPP Survey URGENT ASAP!!!

Important EPP Survey Dear EPP Community, As you know, the diagnosis of EPP is often delayed for many years. Researchers at the Icah...