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Showing posts from July, 2018

UROS gene uroporphyrinogen III synthase

The UROS gene provides instructions for making an enzyme known as uroporphyrinogen III synthase. This enzyme is involved in the production of a molecule called heme. Heme is vital for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is an essential component of iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood). The production of heme is a multi-step process that requires eight different enzymes. Uroporphyrinogen III synthase is responsible for the fourth step in this process, in which hydroxymethylbilane (the product of the third step) is rearranged to form uroporphyrinogen III. In subsequent steps, four other enzymes produce and modify compounds that ultimately lead to heme.

Historic New Drug Application for the use of SCENESSE® in rare metabolic disorder EPP

Monday, 25 June 2018 10:00
Historic New Drug Application for the use of SCENESSE® in rare metabolic disorder EPPEXECUTIVE SUMMARY First NDA for SCENESSE® (afamelanotide 16mg) in the United StatesFirst-line therapy proposed as systemic photoprotection for EPP patientsSubmission of data from five clinical trials in EPP, pooled data, Compassionate Use, Special Access Schemes, and real-world experience from European useNearly 6,700 afamelanotide doses administered to more than 800 patientsPriority Review requested to FDA CLINUVEL PHARMACEUTICALS LTD (ASX: CUV; XETRA-DAX: UR9; NASDAQ INTERNATIONAL DESIGNATION: CLVLY) today announced that it has completed the submission of a New Drug Application (NDA) for its drug SCENESSE® (afamelanotide 16 mg) as the first proposed therapy for patients with the rare metabolic disorder erythropoietic protoporphyria (EPP) in the United States. An approved NDA will allow CLINUVEL to make SCENESSE® available to adult EPP patients in the US as a first-line ther…

PPOX gene protoporphyrinogen oxidase & UROD gene uroporphyrinogen decarboxylase

The PPOX gene provides instructions for making an enzyme known as protoporphyrinogen oxidase. This enzyme is involved in the production of a molecule called heme. Heme is vital for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is an essential component of iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood). The production of heme is a multi-step process that requires eight different enzymes. Protoporphyrinogen oxidase is responsible for the seventh step in this process, in which two hydrogen atoms are removed from protoporphyrinogen IX (the product of the sixth step) to form protoporphyrin IX. In the final step, another enzyme modifies protoporphyrin IX by inserting an iron atom to produce heme.
The UROD gene provides instructions for making an enzyme known as uroporphyrinogen decarboxylase. This enzyme is involved in the production of a molecule called heme. Heme is …

Porphyria Post

Harvoni Study - PCT Do you have PCT? Are you interested in participating in research? Do you have Hepatitis C? If you answered YES to these questions, this is for you. We need YOU for a clinical trial! The purpose of this clinical trial is to assess whether Harvoni alone is an effective therapy in active PCT patients with Chronic Hepatitis C. Who can participate? ·Adult patients with PCT who also have Hepatitis C If you are interested in participating please contact Edrin Williams, Director of Patient Services at the APF office at 301.347.7166 for additional information.
PRIORITY REVIEW letters sent to the FDA!!

You are an amazing community! We had a great response to the call urgent call to action for patient letters.511 letters, a petition, and many poignant photos were sent to the desks of decision-makers at the FDA requesting Priority Review for SCENESSE (afamelanotide 16mg). The new drug application for this treatment was submitted to the FDA on June 22.The FDA has sixty days to de…

HFE gene homeostatic iron regulator & HMBS gene hydroxymethylbilane synthase

The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. The HFE protein is also found on some immune system cells. The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body. The HFE protein regulates the production of another protein called hepcidin, which is considered the "master" iron regulatory hormone. Hepcidin is produced by the liver, and it determines how much iron is absorbed from the diet and released from storage sites in the body. When the proteins involved in iron sensing and absorption are functioning properly, iron absorption is tightly regulated. On average, the body absorbs about 10 percent of the iron obtained from the diet. The HFE protein also interacts with two proteins called transferrin receptors; however, the role of these interactions in iron regulation is unclear.
The HMBS gene provides instructions for making an enzyme…

CPOX Gene coproporphyrinogen oxidase & FECH gene ferrochelatase

The CPOX gene provides instructions for making an enzyme known as coproporphyrinogen oxidase. This enzyme is involved in the production of a molecule called heme. Heme is vital for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is an essential component of iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood). The production of heme is a multi-step process that requires eight different enzymes. Coproporphyrinogen oxidase is responsible for the sixth step in this process, the removal of carbon and oxygen atoms from coproporphyrinogen III (the product of the fifth step) to form protoporphyrinogen IX. In subsequent steps, two other enzymes modify protoporphyrinogen IX and incorporate an iron atom to produce heme.
The FECH gene provides instructions for making an enzyme known as ferrochelatase. This enzyme is involved in the production of a molecule called heme. Heme is vita…