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Monday, January 23, 2017

Finding a Clinical Trial

Finding a Clinical Trial

Around the Nation and Worldwide

Three-dimensional world map in blue on a white background.ymgerman/iStock
NIH conducts clinical research trials for many diseases and conditions, including cancerAlzheimer’s diseaseallergy and infectious diseases, and neurological disorders. To search for other diseases and conditions, you can visit ClinicalTrials.gov.
ClinicalTrials.gov [ Tips for finding trials on ClinicalTrials.gov ]
This is a searchable registry and results database of federally and privately supported clinical trials conducted in the United States and around the world. ClinicalTrials.gov gives you information about a trial's purpose, who may participate, locations, and phone numbers for more details. This information should be used in conjunction with advice from health care professionals.

At the NIH Clinical Center in Bethesda, Maryland

Front entrance of the Mark O. Hatfield Clinical Research Center.NIH Clinical Center
Search NIH Clinical Research Studies
The NIH maintains an online database of clinical research studies taking place at its Clinical Center, which is located on the NIH campus in Bethesda, Maryland. Studies are conducted by most of the institutes and centers across the NIH. The Clinical Center hosts a wide range of studies from rare diseases to chronic health conditions, as well as studies for healthy volunteers. Visitors can search by diagnosis, sign, symptom or other key words.

Join a National Registry of Research Volunteers

ResearchMatchResearchMatch
ResearchMatch(link is external)
This is an NIH-funded initiative to connect 1) people who are trying to find research studies, and 2) researchers seeking people to participate in their studies. It is a free, secure registry to make it easier for the public to volunteer and to become involved in clinical research studies that contribute to improved health in the future.

Friday, January 20, 2017

RSVP HERE https://www.eventbrite.com/e/patient-focused-drug-development-meeting-acute-porphyrias-registration-31068098519

We at the APF are getting very excited to see you all in Washington, D.C. in less than TWO MONTHS!  Many of you have already RSVPed directly to the APF... thank you!  In an effort to stay organized and efficient, we have created an event webpage for our FDA meeting.  Even if you have already RSVPed to us, please sign up through this website, too.  For those of you that have not RSVPed, in addition to signing up on this website, please still let Jessica at the APF know that you are planning to attend.  She can be reached by email atJessica@porphyriafoundation.org or by phone at the APF office at 866-APF-3635 or 713-266-9617.  We will keep you all up to date as the event approaches. 

Please do not hesitate to contact us if you have ANY questions surrounding this important event.

RSVP HERE



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

Wednesday, January 18, 2017

Porphyria~ What are the porphyrias?

Porphyria

What are porphyrias?

Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color. The body makes heme mainly in the bone marrow and liver. Bone marrow is the soft, spongelike tissue inside the bones; it makes stem cells that develop into one of the three types of blood cells—red blood cells, white blood cells, and platelets.
The process of making heme is called the heme biosynthetic pathway. One of eight enzymes controls each step of the process. The body has a problem making heme if any one of the enzymes is at a low level, also called a deficiency. Porphyrins and porphyrin precursors of heme then build up in the body and cause illness.

What is heme and what does it do?

Heme is a red pigment composed of iron linked to a chemical called protoporphyrin. Heme has important functions in the body. The largest amounts of heme are in the form of hemoglobin, found in red blood cells and bone marrow. Hemoglobin carries oxygen from the lungs to all parts of the body. In the liver, heme is a component of proteins that break down hormones, medications, and other chemicals and keep liver cells functioning normally. Heme is an important part of nearly every cell in the body.

What are the types of porphyria?

Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway. Experts often classify porphyrias as acute or cutaneous based on the symptoms a person experiences:
  • Acute porphyrias affect the nervous system. They occur rapidly and last only a short time.
  • Cutaneous porphyrias affect the skin.
Two types of acute porphyrias, hereditary coproporphyria and variegate porphyria, can also have cutaneous symptoms.
Experts also classify porphyrias as erythropoietic or hepatic:
  • In erythropoietic porphyrias, the body overproduces porphyrins, mainly in the bone marrow.
  • In hepatic porphyrias, the body overproduces porphyrins and porphyrin precursors, mainly in the liver.
Table 1 lists each type of porphyria, the deficient enzyme responsible for the disorder, and the main location of porphyrin buildup.
Table 1. Types of porphyria
Type of PorphyriaDeficient Enzyme
delta-aminolevulinate-dehydratase deficiency porphyriadelta-aminolevulinic acid dehydratase
acute intermittent porphyriaporphobilinogen deaminase
hereditary coproporphyriacoproporphyrinogen oxidase
variegate porphyriaprotoporphyrinogen oxidase
congenital erythropoietic porphyriauroporphyrinogen III cosynthase
porphyria cutanea tardauroporphyrinogen decarboxylase (~75% deficiency)
hepatoerythropoietic porphyriauroporphyrinogen decarboxylase (~90% deficiency)
erythropoietic protoporphyria*ferrochelatase (~75% deficiency)

How common is porphyria?

The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.1

What causes porphyria?

Most porphyrias are inherited disorders. Scientists have identified genes for all eight enzymes in the heme biosynthetic pathway. Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent. Some porphyrias, such as congenital erythropoietic porphyria, hepatoerythropoietic porphyria, and erythropoietic protoporphyria, occur when a person inherits two abnormal genes, one from each parent. The likeliness of a person passing the abnormal gene or genes to the next generation depends on the type of porphyria.
Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency. This type of porphyria can be triggered by
  • too much iron
  • use of alcohol or estrogen
  • smoking
  • chronic hepatitis C—a long-lasting liver disease that causes inflammation, or swelling, of the liver
  • HIV—the virus that causes AIDS
  • abnormal genes associated with hemochromatosis—the most common form of iron overload disease, which causes the body to absorb too much iron
For all types of porphyria, symptoms can be triggered by
  • use of alcohol
  • smoking
  • use of certain medications or hormones
  • exposure to sunlight
  • stress
  • dieting and fasting

What are the symptoms of porphyria?

Some people with porphyria-causing gene mutations have latent porphyria, meaning they have no symptoms of the disorder. Symptoms of cutaneous porphyrias include
  • oversensitivity to sunlight
  • blisters on exposed areas of the skin
  • itching and swelling on exposed areas of the skin
Symptoms of acute porphyrias include
  • pain in the abdomen—the area between the chest and hips
  • pain in the chest, limbs, or back
  • nausea and vomiting
  • constipation—a condition in which an adult has fewer than three bowel movements a week or a child has fewer than two bowel movements a week, depending on the person
  • urinary retention—the inability to empty the bladder completely
  • confusion
  • hallucinations
  • seizures and muscle weakness
Symptoms of acute porphyrias can develop over hours or days and last for days or weeks. These symptoms can come and go over time, while symptoms of cutaneous porphyrias tend to be more continuous. Porphyria symptoms can vary widely in severity.

How is porphyria diagnosed?

A health care provider diagnoses porphyria with blood, urine, and stool tests. These tests take place at a health care provider’s office or a commercial facility. A blood test involves drawing blood and sending the sample to a lab for analysis. For urine and stool tests, the patient collects a sample of urine or stool in a special container. A health care provider tests the samples in the office or sends them to a lab for analysis. High levels of porphyrins or porphyrin precursors in blood, urine, or stool indicate porphyria. A health care provider may also recommend DNA testing of a blood sample to look for known gene mutations that cause porphyrias.

How is porphyria treated?

Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms.

Acute Porphyrias

A health care provider treats acute porphyrias with heme or glucose loading to decrease the liver’s production of porphyrins and porphyrin precursors. A patient receives heme intravenously once a day for 4 days. Glucose loading involves giving a patient a glucose solution by mouth or intravenously. Heme is usually more effective and is the treatment of choice unless symptoms are mild. In rare instances, if symptoms are severe, a health care provider will recommend liver transplantation to treat acute porphyria. In liver transplantation, a surgeon removes a diseased or an injured liver and replaces it with a healthy, whole liver or a segment of a liver from another person, called a donor. A patient has liver transplantation surgery in a hospital under general anesthesia. Liver transplantation can cure liver failure. More information is provided in the NIDDK health topic, Liver Transplantation.

Cutaneous Porphyrias

The most important step a person can take to treat a cutaneous porphyria is to avoid sunlight as much as possible. Other cutaneous porphyrias are treated as follows:
  • Porphyria cutanea tarda. A health care provider treats porphyria cutanea tarda by removing factors that tend to activate the disease and by performing repeated therapeutic phlebotomies to reduce iron in the liver. Therapeutic phlebotomy is the removal of about a pint of blood from a vein in the arm. A technician performs the procedure at a blood donation center, such as a hospital, clinic, or bloodmobile. A patient does not require anesthesia. Another treatment approach is low-dose hydroxychloroquine tablets to reduce porphyrins in the liver.
  • Erythropoietic protoporphyria. People with erythropoietic protoporphyria may be given beta-carotene or cysteine to improve sunlight tolerance, though these medications do not lower porphyrin levels. Experts recommend hepatitis A and B vaccines and avoiding alcohol to prevent protoporphyric liver failure. A health care provider may use liver transplantation or a combination of medications to treat people who develop liver failure. Unfortunately, liver transplantation does not correct the primary defect, which is the continuous overproduction of protoporphyria by bone marrow. Successful bone marrow transplantations may successfully cure erythropoietic protoporphyria. A health care provider only considers bone marrow transplantation if the disease is severe and leading to secondary liver disease.
  • Congenital erythropoietic porphyria and hepatoerythropoietic porphyria. People with congenital erythropoietic porphyria or hepatoerythropoietic porphyria may need surgery to remove the spleen or blood transfusions to treat anemia. A surgeon removes the spleen in a hospital, and a patient receives general anesthesia. With a blood transfusion, a patient receives blood through an intravenous (IV) line inserted into a vein. A technician performs the procedure at a blood donation center, and a patient does not need anesthesia.

Secondary Porphyrinurias

Conditions called secondary porphyrinurias, such as disorders of the liver and bone marrow, as well as a number of drugs, chemicals, and toxins are often mistaken for porphyria because they lead to mild or moderate increases in porphyrin levels in the urine. Only high—not mild or moderate—levels of porphyrin or porphyrin precursors lead to a diagnosis of porphyria.

Eating, Diet, and Nutrition

People with an acute porphyria should eat a diet with an average-to-high level of carbohydrates. The recommended dietary allowance for carbohydrates is 130 g per day for adults and children 1 year of age or older; pregnant and breastfeeding women need higher intakes.2 People should avoid limiting intake of carbohydrates and calories, even for short periods of time, as this type of dieting or fasting can trigger symptoms. People with an acute porphyria who want to lose weight should talk with their health care providers about diets they can follow to lose weight gradually.
People undergoing therapeutic phlebotomies should drink plenty of milk, water, or juice before and after each procedure.
A health care provider may recommend vitamin and mineral supplements for people with a cutaneous porphyria.

Points to Remember

  • Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain.
  • Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway.
  • The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.
  • Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent.
  • Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency.
  • Symptoms of cutaneous porphyrias include
    • oversensitivity to sunlight
    • blisters on exposed areas of the skin
    • itching and swelling on exposed areas of the skin
  • Symptoms of acute porphyrias include
    • pain in the abdomen
    • pain in the chest, limbs, or back
    • nausea and vomiting
    • constipation
    • urinary retention
    • confusion
    • hallucinations
    • seizures and muscle weakness
  • A health care provider diagnoses porphyria with blood, urine, and stool tests.
  • Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms.

References

Clinical Trials

The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and other components of the National Institutes of Health (NIH) conduct and support research into many diseases and conditions.

What are clinical trials, and are they right for you?

Clinical trials are part of clinical research and at the heart of all medical advances. Clinical trials look at new ways to prevent, detect, or treat disease. Researchers also use clinical trials to look at other aspects of care, such as improving the quality of life for people with chronic illnesses. Find out if clinical trials are right for you .

What clinical trials are open?

Clinical trials that are currently open and are recruiting can be viewed at www.ClinicalTrials.gov .
https://www.niddk.nih.gov/health-information/liver-disease/porphyria

Wednesday, January 11, 2017

Is Porphyria a Single Disease or a Disorder?

Porphyria is not a single disease but a group of at least eight disorders that differ considerably from each other. A common feature in all porphyrias is the accumulation in the body of porphyrins or porphyrin precursors. Although these are normal body chemicals, they normally do not accumulate. Precisely which of these chemicals builds up depends on the type of porphyria.
The terms porphyrin and porphyria are derived from the Greek word porphyrus, meaning purple. Urine from some porphyria patients may be reddish in color due to the presence of excess porphyrins and related substances in the urine, and the urine may darken after exposure to light.
The symptoms and treatment vary significantly from one type of Porphyria to the next.
Porphyria symptoms arise mostly from effects on either the nervous system or the skin. Effects on the nervous system occur in the acute porphyrias (AIPADPHCP and VP). Proper diagnosis is often delayed because the symptoms are nonspecific. Skin manifestations can include burning, blistering and scarring of sun-exposed areas.
The porphyrias are rare diseases. Taken together, all forms of porphyria afflict fewer than 200,000 people in the United States. Based on European studies, the prevalence of the most common porphyria, porphyria cutanea tarda (PCT), is 1 in 10,000, the most common acute porphyria, acute intermittent porphyria (AlP), is about 1 in 20,000, and the most common erythropoietic porphyria, erythropoietic protoporphyria (EPP), is estimated at 1 in 50,000 to 75,000. Congenital erythropoietic porphyria (CEP) is extremely rare with prevalence estimates of 1 in 1,000,000 or less. Only 6 cases of ALAD-deficiency porphyria (ADP) are documented.
EPP is the most common porphyria in childhood, and the one associated with the longest delays in diagnosis.

Friday, January 6, 2017

PSA Get Well

We know that many this time of year are sick. This can be the worst time for an attack, due to the holidays, travel, illness, winter and stress. Please let us know how we may may be able to help you by providing your Dr with a comprehensive Dr Packet or a patient kit for yourself. Our thoughts and prayers are with you all during such difficult times

Wednesday, January 4, 2017

Other Important Treatment Considerations for the Acute Porphyrias

Other Important Treatment Considerations for the Acute Porphyrias

  • Hospitalization is often necessary for acute attacks. Medications for pain, nausea, and vomiting, as well as close observation are generally required.
  • A high intake of glucose or other carbohydrates can help to suppress disease activity and can be given by vein or by mouth.
  • Attacks are often precipitated by low intake of carbohydrates and calories in an attempt to lose weight. Thus dietary counseling is very important.
  • Premenstrual attacks often resolve quickly with the onset of menses. Hormone manipulations may prevent such attacks.
  • Acute porphyria is particularly dangerous if the diagnosis has not been made and if harmful drugs are administered. The prognosis is usually good if the disease is recognized and if treatment and preventive measures are begun before severe nerve damage has occurred. Although symptoms usually resolve after an attack, some patients develop chronic pain. Nerve damage and associated muscle weakness can improve over a period of months or longer after a severe attack. Mental symptoms may occur during attacks but are usually not chronic.
  • Wearing a MedicAlert® bracelet is advisable for patients who have been diagnosed with porphyria.

Bibliography:
Anderson KE. The porphyrias. In: Goldman L, Ausiello D, eds. Cecil Textbook of Medicine. Philadelphia, Pa: WB Saunders Co; 2004: chap. 223.
Bonkovsky HL, Healey BS, Lourie AN, Gerron GG. Intravenous heme-albumin in acute intermittent porphyria: evidence for repletion of hepatic hemoproteins and regulatory heme pools. Am J Gastroenterol. 1991;86:1050-1056.
Data on file, Recordati Rare Diseases, Inc.

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The Program offers comprehensive assistance for insurance-related issues:
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Saturday, December 24, 2016