Members & Followers

Thursday, June 30, 2016

Jared Ulmers vlog called Porphyria J Check him out

APF Member, Jared Ulmer, has started a vlog on YouTube called Porphyria J.  It's a vlog devoted to creating community and awareness around Porphyria, specifically EPP, and how he lives with it during the sunniest and hottest season of the year.  The first episode of the 13 week series, called Summer Shade, aired last night.
Comment, Like, Share and Subscribe for new episodes every Tuesday!  
Jared will be covering a spectrum of topics and we hope you join him on his journey.

Check out the Porphyria J YouTube Channel here: https://www.youtube.com/channel/UC7SYTLc6RSGptlHHQ8Aapmg
Episode 1 of Summer Shade can be found here:


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

Monday, June 27, 2016

Being Reallistic


A modest person is realistic. He recognizes that there are limits to his time, energy, and resources. So rather than trying to change everything at once, he makes improvement gradually.
Trying to reach all your goals at the same time is a sure way to reach none of them!

WHAT YOU CAN DO

Work on your habits in realistic increments. The following steps may help:
  1. Create two ‘master lists’—a list of good habits that you would like to build and a list of any bad habits that you need to get rid of. Do not limit yourself; on each list, write down as many as you can think of.
  2. Prioritize the items on your lists, numbering them in the order of importance to you.
  3. Choose a few habits—even just one or two—from each list, and focus on those. Then move on to the next one or two habits on each of your lists.
Speed up the process by replacing a bad habit with a good one. For example, if your list of bad habits includes watching too much TV and your list of good habits includes keeping in touch with loved ones, you could resolve: ‘Instead of immediately turning on the TV when I get home from work each day, I will contact a friend or a relative and catch up.’ Tips for the day

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

Friday, June 24, 2016

How to Harness Your Habits


How to Harness Your Habits


00:00
01:53

  • An alarm clock
    WHEN Austin’s alarm clock goes off, he is sleepy. But he immediately gets out of bed, puts on the exercise clothes he laid out the night before, and goes for a brief jog—just as he has three times a week for the past year.

  • A bag of candy
    Laurie just had a fight with her husband. Angry and frustrated, she storms into the kitchen, pulls out a bag of chocolate candies, and eats them all—just as she seems to do every time she is upset.
What do Austin and Laurie have in common? Whether they realize it or not, both have been affected by a powerful force—the force of habit.
What about you? Are there good habits that you would like to build in your life? Perhaps your goal is to exercise regularly, to get more sleep, or to keep in closer touch with loved ones.
On the other hand, maybe you would like to break a bad habit, such as smoking cigarettes, eating too much junk food, or spending excessive time on the Internet.
Admittedly, it can be difficult to overcome a bad habit. In fact, it has been said that a bad habit is like a warm bed on a cold day: it’s easy to get into and hard to get out of!
So how can you harness your habits and make them work for you instead of against you?

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

Wednesday, June 22, 2016

Patient Meet in Philadelphia

Over the weekend, Ariel Lager hosted a successful patient meeting in Philadelphia.
There was a great turnout and Dr. Manish Thapar gave a wonderful presentation about the porphyrias before welcoming questions from the group. Alnylam Pharmaceuticals also made a great presentation about their current research studies.
Jessica from the APF was able to attend the meeting and was very happy to meet so many people!
**There will be another Patient Meeting in Indianapolis soon! Stay tuned for more information!**
Please let the APF know if you'd like to host a meeting in your area!
 If you would like to receive the Apf E-News that contains information about Events, Research News, Research opportunities, and much much more please join the APF: http://www.porphyriafoundation.com/content/join-apf
"Remember....Research is the key to your cure!"
American Porphyria Foundation added 3 new photos.
Published by Rob Saupe'6 mins
Over the weekend, Ariel Lager hosted a successful patient meeting in Philadelphia.
There was a great turnout and Dr. Manish Thapar gave a wonderful presentation about the porphyrias before welcoming questions from the group. Alnylam Pharmaceuticals also made a great presentation about their current research studies.
Jessica from the APF was able to attend the meeting and was very happy to meet so many people!
**There will be another Patient Meeting in Indianapolis soon! Stay tuned for more information!**
Please let the APF know if you'd like to host a meeting in your area!
 If you would like to receive the Apf E-News that contains information about Events, Research News, Research opportunities, and much much more please join the APF: http://www.porphyriafoundation.com/content/join-apf
"Remember....Research is the key to your cure!"

Monday, June 20, 2016

Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)

Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)



Erythropoietic Protoporphyria (EPP) or Protoporphyria
Erythropoietic Protoporphyria is characterized by abnormally elevated levels of protoporphyrin IX in erythrocytes (red blood cells) and plasma (the fluid portion of circulating blood), and by sensitivity to visible light that is usually noticed in early childhood and occurs throughout life.  EPP can result either from mutations of the ferrochelatase gene (FECH), or less commonly the delta-aminolevulinic acid synthase-2 gene (ALAS2).  When EPP is due to an ALAS2 mutation it is termed X-linked protoporphyria (XLP), because that gene is found on the X chromosome. 
Protoporphyrin accumulates first in the bone marrow in EPP, and then in red blood cells, plasma and sometimes the liver. Protoporphyrin is excreted by the liver into the bile, after which it enters the intestine and is excreted in the feces. It is not soluble in water so is not excreted in the urine. 
EPP is the third most common type of porphyria, and the most common in childhood.  It causes very painful photosensitivity and can greatly impair quality of life.  Delay in diagnosis is greater than with any other type of porphyria. 
Swelling, burning, itching, and redness of the skin may appear during or after exposure to sunlight, including sunlight that passes through window glass. This can cause mild to severe burning pain on sun-exposed areas of the skin.  Usually, these symptoms subside in 12 to 24 hours and heal without significant scarring. Blistering and scarring are characteristic of other types of cutaneous porphyria but are unusual in EPP.  Skin manifestations generally begin early childhood and are more severe in the summer.
There is an increased risk of gallstones, which contain protoporphyrin. Excess protoporphyrin can also cause liver damage.  Less than 5% of EPP patients’ severe liver damage and a condition caused protoporphyric hepatopathy that sometimes requires liver transplantation. 
Diagnosis and Genetic Counseling
EPP should be suspected in anyone with non-blistering photosensitivity especially when it is prolonged and beginning in childhood.  It is easy to make a diagnosis, or rule it out, once it is suspected. 
The diagnosis of EPP is established by finding an abnormally high level of total erythrocyte protoporphyrin, and showing that this increase is mostly free protoporphyrin rather than zinc protoporphyrin.  There is considerable confusion about which test to order.  Sometimes laboratories have measured only zinc protoporphyrin and reported results incorrectly as “protoporphyrin” or “free erythrocyte protoporphyrin (FEP)”.  Laboratories that measure total erythrocyte protoporphyrin, free protoporphyrin and zinc protoporphyrin and report results reliably are:
  • Porphyria Laboratory and Center, University of Texas Medical Branch at Galveston, 1-409-772-4661
  • Mayo Medical Laboratories, 1-800-533-1710 
  • ARUP Laboratories

Porphyrins are almost always elevated in plasma in EPP, but may be normal in mild cases.  Fecal porphyrins may be normal or increased. 
An experienced biochemical laboratory can usually distinguish between patients with EPP and XLP, because the former have much less zinc protoporphyrin in their erythrocytes.  This can be explained because in the marrow the enzyme ferrochelatase not only normally makes heme (iron protoporphyrin) from protoporphyrin and iron, but can also make zinc protoporphyrin, especially when excess protoporphyrin is present or iron is deficient.  However, this does not replace DNA studies. 
Rarely, EPP develops in adults in the presence of a bone marrow disorder such as polycythemia vera, and is due to expansion of a clone of red blood cell precursors in the marrow that is deficient in ferrochelase. 
DNA studies are important for confirming the diagnosis of EPP and XLP and for genetic counseling.  This should be completed first in a person known to have the disease, and the information about the mutations in that individual used to guide testing of family members. 
When EPP is due to a FECH mutation the inheritance is described as autosomal recessive.  It is most common to find that one severe mutation is inherited from one parent and another weak mutation inherited from the other parent.  The weak mutation is quite common in normal Caucasians, rare in Blacks and even more common in Japanese and Chinese populations.  This mutation is sometime referred to as “hypomorphic” because it results in formation of a less than normal amount of ferrochelatase.  But is does not cause EPP unless it is paired with a severe mutation.  The severe mutation is characteristic for an EPP family and is present in all affected individuals.  “Carriers” of the severe mutation are not affected because they do not have the weak mutation.  Affected individuals and unaffected carriers can transmit the severe mutation to the next generation.  Some of their children will have EPP if the other parent has a copy of the weak mutation.  Rarely, the weak mutation is absent in an EPP family and two severe mutations are found, with at least one producing some ferrochelatase. 
In XLP, mutations of the ALAS2 gene, which is found on the X chromosome, causes an increase in the production of the enzyme ALAS2 in the bone marrow.  Several of these “gain of function” mutations have been described in different XLP families.  In XLP protoporphyrin production exceeds that needed for heme and hemoglobin formation.  Like hemophilia and other X linked genetic diseases, XLP is more common in men.  Women have two X chromosomes and are usually not affected because they have a normal as well as a mutated ALAS2 gene.  Men have only one X chromosome and will be affected if they inherit an ALAS2 mutation.  Women with an ALAS2mutation will, on average, pass that mutation to half of their daughters (who will usually be unaffected carriers) and to half of their sons (who will be affected). 
Treatment and Management
1.  Sunlight protection
Protection from sunlight is the mainstay of management of EPP, and this is necessary throughout life.  Disease severity and porphyrin levels in erythrocytes and plasma probably remain high and relatively constant throughout life in EPP.  However, this has been little studied and more longitudinal observations are needed.  Life style, employment, travel and recreation require adjustment in order to avoid painful reactions to sunlight and even from exposure to fluorescent lighting.  For these reasons EPP can substantially affect quality of life. 
Protective clothing, including broad-brimmed hats, long sleeves, gloves and trousers (rather than shorts), is beneficial.  Several manufacturers specialize on clothing made of closely woven fabrics for people with photosensitivity. 
2.  Beta-Carotene (Lumitene Tishcon)
Beta-carotene is an over the counter product that was originally developed in a purified form as a drug for the treatment of EPP, and was shown to be effective by Dr. Micheline Mathews-Roth at Harvard University and others.  The pharmaceutical grade formulation is now distributed by Tishcon as Lumitene, and can be ordered by calling 1-800-866-0978 or via the website www.epic4health.com.  Other products are less standardized and reliable and are not recommended. 
Beta-carotene provides protection by quenching reactive oxygen products that form when protoporphyrin is activated in the skin by light.  It is important to take an amount that is adequate to be protective.  For more information about Lumitene, including a recommended dosing schedule, please see the Lumitene section of this website.

3.  Other considerations
In an occasional patient, protoporphyrin causes liver problems, so monitoring liver function is important. EPP patients should also not use any drug or anesthetic which causes cholestasis (slowing down bile flow), and should also avoid alcohol. Women should avoid medications containing estrogen (birth-control pills, hormone replacement therapy), and men should avoid testosterone supplements, as these substances can also have deleterious effects on the liver of a person with EPP.
Consult a specialist.  Because EPP is a rare condition, most physicians are not knowledgeable about it.  Contact The American Porphyria Foundation, 713-266-9617 for contact with an expert and to provide further information.  A Medic Alert bracelet with instructions to contact a specialist if needed is a worthwhile precaution.
Yearly monitoring.  Testing to include erythrocyte total protoporphyrin, plasma porphyrin, complete blood counts, ferritin and liver function tests should be done yearly.  Porphyry levels are expected to be stable and liver tests to remain normal.  EPP patients may have evidence of iron deficiency, and an iron supplement may be advisable if the serum ferritin is below about 20 ng/mL. 
Vitamin D.  Because they avoid sunlight, EPP patients are likely to be deficient in vitamin D.  A vitamin D supplement with calcium is recommended for bone health. 
Liver protection.  It is important to avoid other causes of liver disease that might promote the development of liver complications from EPP.  Patients should avoid alcohol and other substances that might damage the liver, including many herbal preparations, and be vaccinated for hepatitis A and B. 
Surgical lights. Strong operating room lights can cause photosensitivity of the skin and even surfaces of internal organs.  Flexible membrane filters, such as CL5-200-X from Madico Co., are available to cover surgical lights and offer some protection.  This is especially important in EPP patients with liver failure, which causes even greater increases in protoporphyrin levels and photosensitivity. 
Drugs.  Drugs that are harmful in other porphyrias are not known to make EPP worse, but are best avoided as a precaution.  This may include estrogens and other drugs that might reduce bile formation.  A short course of a non-steroidal anti-inflammatory drug can provide some pain relief after an episode of photosensitivity, but can cause ulcerations of the digestive track especially with prolonged use. 
Laser treatment.  According to Dr. Roth, laser treatments for hair removal or eye surgery have not been a problem in EPP people.  But the doctor should be made aware of the diagnosis, and that laser output between 400 and 650 nanometers might be harmful. Before hair removal treatment, the doctor may irradiate a small area of the skin to be treated for the length of time it will take to do the hair removal to ascertain if the patient would react within the period of time that a reaction to sunlight would be expected in that patient.  
Children with EPP.  Avoiding sunlight can be difficult for children with EPP who have less sunlight tolerance than their friends.  Camp Discovery is an option for such children.  It provides a week-long summer camping experience of fishing, boating, swimming, water skiing, arts and crafts, and just plain fun for young people with skin disorders, and is sponsored by the American Academy of Dermatology.  Full scholarships, including transportation, are provided by the American Academy of Dermatology through generous donations of their members and other organizations. Members of the Academy are asked to recommend candidates for Camp Discovery, so ask your child's doctor about sending your child to Camp Discovery.
Disneyland and Disney World are responsive to people with sun sensitivity. They will provide a pass to enable you to enter attractions without waiting in line in the sun.
Disneyland
Go to "Town Hall" and explain your problem with photosensitivity. You should bring a physician's letter with you as well as an APF brochure explaining the type of Porphyria you have. The staff will ask you some questions about your limitations (e.g., whether or not you can climb stairs) and how many are in your group. Next time you return, be sure to bring the old card with you, as it will only take about half as long to go through the process on your next trip.
Disney World
Proceed to the "Guest Relations" office at any park (Magic Kingdom, EPCOT, etc.) and request the Special Assistance Pass.
Remember to bring a doctor's note and explanation of your condition, because it is not necessarily visible. People on duty may not be familiar with light sensitivity and its consequences.
Research Opportunities
Patients with EPP and XLP can participate in the research through the Porphyrias Consortium.  The American Porphyria Foundation has information on what research protocols are currently open. 
·         
The Porphyrias Consortium is conducting a Longitudinal Study to better define the natural history of the disease.  This study is currently open for enrollment of new patients. 
·         
The Porphyrias Consortium will be starting a pilot study soon on a drug that may lower porphyrin levels in EPP. 
·         
Clinuvel Pharmaceuticals is developing afamelanotide (Scenesse®) for the treatment of EPP.  This drug is given by injection and increases skin pigmentation.  Another study of this drug is expected to open within the next year. 
All patients with porphyria are encouraged to enter the Porphyrias Registry at the Porphyrias Consortium website.  A link to this website is found on the website of the American Porphyria Foundation.  Registration demonstrates to NIH that patients and their families think that research on porphyrias is important.  You can also ask that one of the 6 porphyria center in the Consortium contact you.  

FDA HERE WE COME DONT GIVE UP NOW> MEETING IN OCT 2016

Friday, June 17, 2016

Synonyms of Hepatoerythropoietic Porphyria

Hepatoerythropoietic Porphyria

NORD gratefully acknowledges Ashwani K Singal, MD, MSc, Division of Gastroenterology and Hepatology, University of Alabama at Birmingham, for assistance in the preparation of this report.

Synonyms of Hepatoerythropoietic Porphyria

  • autosomal recessive PCT
  • HEP

General Discussion

Summary
Hepatoerythropoietic porphyria (HEP) is an extremely rare genetic disorder characterized by deficiency of the enzyme, uroporphyrinogen decarboxylase. This deficiency is caused by mutations of both copies of a person’s UROD gene, which means that the disorder is inherited as an autosomal recessive trait. Most affected individuals have a profound deficiency of this enzyme and onset of the disorder is usually during infancy or early childhood. However, some individuals may have a mild form that can go undiagnosed until adulthood. The childhood form of HEP is often associated with painful, blistering skin lesions that develop on sun-exposed skin (photosensitivity). Affected areas of skin can scar and become discolored. There may be risk of bacterial infection. Abnormal, excessive hair (hypertrichosis) on affected skin is also common. Mild anemia and abnormal enlargement of the liver and/or spleen (hepatosplenomegaly) have also been reported. Mild cases of HEP may go unrecognized until adulthood and can be clinically indistinguishable from porphyria cutanea tarda (PCT), a related disorder that may be acquired or occur in individuals with a mutation of one UROD gene (autosomal dominant inheritance). Cutaneous photosensitivity is generally much more severe in HEP than in PCT. NORD has a separate report on porphyria cutanea tarda.
Introduction
HEP belongs to a group of disorders known as the porphyrias. This group of at least seven disorders is characterized by abnormally high levels of porphyrins and porphyrin precursors due to deficiency of certain enzymes essential to the creation (synthesis) of heme, a part of hemoglobin and other hemoproteins. There are eight enzymes in the pathway for making heme and at least seven major forms of porphyria. The symptoms associated with the various forms of porphyria differ. It is important to note that people who have one type of porphyria do not develop any of the other types. Porphyrias are generally classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and porphyrin precursors and related substances originate in excess amounts predominantly from the liver in the hepatic types and mostly from the bone marrow in the erythropoietic types. Porphyrias with skin manifestations are sometimes referred to as "cutaneous porphyrias". The term "acute porphyria" is used to describe porphyrias that can be associated with sudden attacks of pain and other neurological symptoms. HEP is a hepatic and cutaneous porphyria.

Signs & Symptoms

The symptoms and severity of HEP can vary from one person to another. Onset is usually within the first two years of life, but mild cases that go undiagnosed until adulthood have been reported. Although HEP is associated with specific, characteristic symptoms, several factors, including the small number of identified cases, make it difficult to establish the full range of associated symptoms of the disorder.
Severe cutaneous photosensitivity is usually the first sign. Affected infants may have extremely fragile skin that that can peel or blister on minimal impact is common. Reddening of the skin is common (erythema). Blistering skin lesions can develop on sun-exposed skin such as the hands and face. Photosensitivity can be severe and can cause scarring, erosion, and disfigurement. Bacterial infection of skin lesions can occur.
Abnormal, excessive hair growth (hypertrichosis) may also occur on sun-exposed skin. Affected skin may darken or lose color (hyper- or hypopigmentation). Small bumps with a distinct white head (milia) may also develop. Some affected individuals have teeth that are reddish-brown colored (erythrodontia).
Low levels of circulating red blood cells (anemia) may also occur. Anemia may be due to the premature destruction of red blood cells (hemolysis). Anemia associated with HEP may be mild or severe. Severe anemia may be associated with fatigue, pale skin, irregular heartbeat, chest pain, dizziness, and abnormally cold hands and feet. Some individuals may have an abnormally enlarged liver and/or spleen (hepatosplenomegaly).
Mild cases of HEP can go undiagnosed until adulthood. Overt photosensitivity may not be seen and mild skin damage can be mistaken for other conditions during childhood.

Causes

HEP is caused by mutations of both alleles of the UROD gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.
HEP is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.
Investigators have determined that the UROD gene is located on the short arm (p) of chromosome 1 (1p34.1). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 1p34.1” refers to band 34.1 on the short arm of chromosome 1. The numbered bands specify the location of the thousands of genes that are present on each chromosome.
The UROD gene creates (encodes) an enzyme known as uroporphyrinogen decarboxylase (UROD), which is the fifth enzyme in the heme biosynthetic pathway. In HEP, UROD enzyme activity is usually less than 10% its normal levels. Such low enzyme activity results in the abnormal accumulation of specific porphyrins and related chemicals in body, especially within the bone marrow, red blood cells, liver and skin. Symptoms develop because of this abnormal accumulation of porphyrins and related chemicals. For example when porphyrins accumulate in the skin, they absorb sunlight and enter an excited state (photoactivation). This abnormal activation results in the characteristic damage to the skin found in individuals with HEP. The liver removes porphyrins from the blood plasma and secretes it into the bile. When porphyrins accumulate in the liver, they can cause toxic damage to the liver.

Affected Populations

HEP is an extremely rare disorder that affects males and females in equal numbers. Approximately 40 cases have been reported in the medical literature. The exact incidence or prevalence of HEP in the general population is unknown.

Diagnosis

A diagnosis of HEP is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. HEP may be considered in infants and children with chronic, blistering photosensitivity.
Clinical Testing and Workup
Screening tests can help diagnose HEP by measuring the levels of certain porphyrins in blood plasma, urine and red blood cells. These tests can help to differentiate the disorder from congenital erythropoietic porphyria by the different patterns of individual porphyrins and/or by demonstrating markedly decreased activity of the UROD enzyme. There is elevation of porphyrins in plasma, urine, and feces. Porphyrin patterns in HEP are similar to those seen in PCT with elevation of highly carboxylated porphyrins and isocoproporphyrins. In contrast to PCT, there are markedly increased levels of zinc protoporphyrin in red blood cells in HEP patients which is due to accumulation of pathway intermediates being metabolized to protoporphyrins.
Molecular genetic testing can confirm a diagnosis of HEP by detecting mutations in both UROD genes, but is available only on a clinical basis.

Standard Therapies

Treatment
The treatment of HEP is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, hematologists, dermatologists, hepatologists, and other healthcare professionals may need to systematically and comprehensively plan an affected child’s treatment. Genetic counseling may benefit affected individuals and their families.
There is no specific, FDA-approved therapy for individuals with HEP. Because the disorder is so rare, most treatment information is based other forms of porphyria.
Avoidance of sunlight will benefit affected individuals and can include the use of clothing styles with long sleeves and pant legs, made with double layers of fabric or of light-exclusive fabrics, wide brimmed hats, gloves, and sunglasses. Topical sunscreens are generally ineffective, but certain tanning products with ingredients that increase pigmentation may be helpful. Affected individuals may also benefit from window tinting and the use of vinyl or films to cover the windows of their homes and cars.
Phlebotomies, which are used to treat individuals with PCT, are generally ineffective in individuals with HEP since elevated iron levels are not a feature of the disorder. Another treatment for PCT, the antimalarial drug chloroquine, was effective in at least one case reported in the medical literature.
Anemia may require treatment in some cases. Blood transfusions have been used to treat some individuals. Recombinant erythropoietin, which helps the body produce more red blood cells, was successfully used to treat severe anemia in an individual with HEP whose anemia was not associated with increased red cell destruction.

Investigational Therapies

Gene therapy is also being studied as another approach to therapy for individuals with genetic disorder associated with enzyme deficiency. In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the produce of the active enzyme and prevent the development and progression of the disease in question. Given the permanent transfer of the normal gene, which is able to produce active enzyme at all sites of disease, this form of therapy is theoretically most likely to lead to a “cure”. However, at this time, there remain some technical difficulties to resolve before gene therapy can be advocated as a viable alternative approach for genetic disorders like HEP.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov
For information about clinical trials sponsored by private sources, in the main, contact:
www.centerwatch.com
For more information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/

NORD Member Organizations

Wednesday, June 15, 2016

EPP Date with the FDA

HOORAY!! The APF, with your help, got an EPP meeting with the FDA! The meeting is scheduled for October 24, 2016 from 10am - 4pm (EDT) at the FDA. The FDA will be observing how many people are interested in this meeting so we need as many people as possible to attend. We MUST show them the extreme need for treatment. Great work, everyone! See below for more details!
Register here: https://eppscientificworkshop.eventbrite.com
Dear Stakeholder,
On behalf of the Food and Drug Administration (FDA), we invite you to an upcoming public workshop on Erythropoietic Protoporphyria (EPP) to be held October 24, 2016 from 10am-4pm (EDT) at the FDA Campus in Silver Spring, Maryland. Specific details are outlined below.
The public workshop is intended to discuss how best to facilitate and expedite the development of safe and effective drug therapies to treat signs and symptoms related to EPP. FDA will provide information for and gain perspective from patients and patient advocacy organizations, health care providers, academic experts, and industry on disease symptoms and its impact on patients' daily life, patient experience with current treatment regimens for EPP, and various aspects of clinical development of products intended to treat EPP.
We're asking you to help make this workshop a success by encouraging patients, patient representatives, health care providers, academic experts and industry to participate either in-person or through the live webcast. FDA needs your help to make this workshop a success. Please direct stakeholders to the links below to register and to learn more about the workshop.
Registration: https://eppscientificworkshop.eventbrite.com
Workshop website: Scientific Workshop on Erythropoietic Protoporphyria
We look forward to this exciting workshop and hope to see you there. If you have any questions, please feel free to contact us at meghana.chalasani@fda.hhs.gov.
Use the link below to sign up: https://www.eventbrite.com/e/scientific-workshop-for-erythropoietic-protoporphyria-epp-registration-24971245668
                                               "Remember....Research is the key to your c
ure!"