Monday, August 21, 2017

EPP Have you ever wondered why you have been sunburnt on a cloudy day?


        EPP
Have you ever wondered why you have been sunburnt on a cloudy day?
The total dose of UV radiation reaching the earth’s surface and hence, the potential damage to human skin and tissues, varies, depending on many factors.
The sun’s elevation in the sky depends on the time of the day and year. The shorter the distance that photons (making up the total of UV radiation) need to travel though the earth's atmosphere, the greater the intensity of UV radiation. The altitude of a location also effects UV radiation levels as the higher a location is above sea level, the shorter the distance UV radiation travels.
The thinning of the ozone layer located above Antarctica has had a considerable impact on the ability of the atmosphere to absorb UVB, a significant contributor to the increased incidence of skin cancer and other damage to human tissues which has been observed in populations bordering the ozone hole.
Clouds act on UV primarily by scattering radiation which can both reduce and enhance the UV radiation levels depending on the type of cloud cover.
Some clouds absorb infrared radiation and as a result of the diminished heat sensation, people are given a false sense of security and often change their behaviour on cloudy days, unaware that they are exposing themselves to this potential danger.
UV radiation is also reflected from surfaces such as sand, snow and water. These surfaces can increase the UV radiation at ground level and increase the amount of skin damage incurred from UV radiation exposure.
So, when all these factors are considered, it is important to recognise that the net potential UV risk is a result of these associated variables, depending an Individual’s circumstances. The only sure way to significantly reduce the risk of skin damage is with vigilant protection from UV radiation and light, known as photoprotection.

Thursday, August 17, 2017

EPP is CLINUVEL's lead clinical indication for SCENESSE®(afamelanotide 16mg)

EPP is CLINUVEL's lead clinical indication for SCENESSE®(afamelanotide 16mg)
Clinical and regulatory progress:
In December 2014, the European Commission approved SCENESSE® to prevent phototoxicity in adult patients diagnosed with EPP, following a recommendation from the European Medicines Agency's Committee for Medicinal Products for Human Use (CHMP). You can read the announcement here.
CLINUVEL is currently working to make SCENESSE® available across Europe. If you have EPP and would like to receive updates on our program, please contact us.
About Erythropoietic Protoporphyria (EPP)
EPP symptoms on the lips
EPP is a rare life-long genetic disease found mainly in fair-skinned people. It is characterised by severe phototoxicity (intolerance of light) of the skin resulting in intolerable pain, swelling and scarring, usually of exposed areas such as the face, hands and feet. Reactions can vary from mild to extreme with hospitalisation and powerful pain killers required in the worst cases.
Children and adults living with EPP must avoid sunlight and even reflected light for life, often staying indoors or wearing protective clothing. Conventional sunscreens have little to no effect.
Since sun avoidance is recommended, patients lead lives where they are in the sun for very limited time. This can prevent normal social activities and the intense pain that is experience interferes with normal daily activities and can prevent adequate sleep.
Approximately 10,000 people globally are affected by EPP, an estimated 4,000 in the US.
Keep up to date with our clinical trials, EPP blogs and videos.
 Clinical results - EPP
In January 2009 CLINUVEL announced interim results from its lead Phase III study of SCENESSE® (afamelanotide 16mg) in patients diagnosed with EPP (CUV017). The data from the first 14 Swiss patients to complete the 12 month study period were analysed, showing SCENESSE® was of clinical benefit in EPP. For more information, see the company's announcement.
In December 2009 CLINUVEL announced preliminary results from its lead Phase III study of SCENESSE® in 100 patients diagnosed with EPP (CUV017). For more information, see the company's announcement.
CLINUVEL released full results from the CUV017 study in July 2010. For more information, see the company's announcement.
In November 2011 CLINUVEL announced results from it first US Phase II study of SCENESSE® (CUV030). You can read the results here.
In December 2011 CLINUVEL announced results from its second Phase III study of SCENESSE® (CUV029). You can view the results here.
In November 2013 CLINUVEL announced results from its US Phase III study of SCENESSE® (CUV039). You can read the results here.
 Regulatory status
SCENESSE® (afamelanotide 16mg) has been granted Orphan Drug Designation by the EMA, FDA, TGA and Swissmedic for EPP.
In May 2010, the Italian Medicines Agency allowed for the prescription and reimbursement of SCENESSE® (afamelanotide 16mg) under Law 648/96 for Italian patients diagnosed with EPP. For more information, see this page.
In December 2014, the European Commission approved SCENESSE® to prevent phototoxicity in adult patients diagnosed with EPP, following a recommendation from the European Medicines Agency's Committee for Medicinal Products for Human Use (CHMP). You can read the announcement here.
CLINUVEL is currently working to make SCENESSE® available across Europe. If you have EPP and would like to receive updates on our program, please contact us.

References
·       Harms JH, et al. ‘Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone.’ Photochem Photobiol. 2009 Nov-Dec;85(6):1434-9.
·       Murphy GM. ‘Diagnosis and Management of the Erythropoietic Porphyrias’, Dermatologic Therapy 2003;16:57-64.
·       Thunell S, Harper P, Brun A. ‘Porphyrins, Porphyrin Metabolism and Porphyrias. IV. Pathophysiology of Erythropoietic Protoporphyria - Diagnosis, Care and Monitoring of the Patient’. Scand J Clin Lab Invest 2000;60:581-604.
·       Todd DJ. ‘Clinical Implications of the Molecular Biology of Erythropoietic Protoporphyria’, J Eur Acad Dermatol Venerol 1998;11:207-13.


Monday, August 14, 2017

New Positive Clinical Results for Givosiran (ALN-AS1) in Acute Intermittent Porphyria Patients with Recurrent Attacks

26 Jun, 2017New Positive Clinical Results for Givosiran (ALN-AS1) in Acute Intermittent Porphyria Patients with Recurrent Attacks
We reported interim results from our ongoing Phase 1 study with givosiran at the 2017 International Congress on Porphyrins and Porphyrias (ICPP), held June 25 – 28, 2017 in Bordeaux, France. Data presented were from the first three unblinded cohorts from Part C, in patients with acute intermittent porphyria (AIP) that experience recurrent attacks and initial data from the open-label extension (OLE) study.
Read our press release
View the complete Phase 1 interim and OLE data presentation
View the results from the EXPLORE natural history study
View the poster on healthcare utilization and costs
View the poster on disease burden in patients with AIP and recurrent attacks

Patients treated with givosiran (N=9) experienced a mean 63 percent reduction in the annualized number of all porphyria attacks relative to the run-in period attack rate, with consistent effects observed across a wide range of baseline attack rates. Evaluating only attacks that were treated at a healthcare facility or with hemin, givosiran administration was associated with a mean 73 percent reduction in annualized attack rate relative to placebo during the treatment period. A 73 percent mean decrease in annualized hemin doses relative to the run-in period was also reported. Additionally, in a new analysis, the observed reduction in annualized attack rate was found to be associated with the degree of ALA and PBG lowering.
Further, initial results from Cohorts 1 and 2 (N=8) of the givosiran OLE study were also presented; to date, all eligible patients have rolled over from the Phase 1 study to the OLE study. These data showed that that longer-term treatment with givosiran was associated with consistent reductions in the annualized porphyria attack rate.
Importantly, as of the data cutoff date, givosiran administration was generally well tolerated in recurrent attack AIP patients in Cohorts 1-3 in Part C of the Phase 1 study and in Cohorts 1 and 2 of the ongoing OLE study, with a mean of 169 and 111 days on study, respectively, and up to 12 months on givosiran. In Part C there were no drug-related serious adverse events (SAEs) or discontinuations due to adverse events (AEs). Excluding porphyria attacks, three patients had four SAEs; none were assessed as related to study drug. As previously reported, one death occurred in a patient in cohort 3 in the givosiran arm due to hemorrhagic pancreatitis complicated by a pulmonary embolism and following a recent hospitalization for bacteremia; the death was considered to be unlikely related to study drug by the investigator and the study’s Safety Review Committee. During the Phase 1 treatment period, all randomized patients reported at least one AE.
The majority of AEs were assessed as mild or moderate in severity. Twenty-five percent of patients had severe AEs, assessed as unrelated to study drug. AEs in three or more patients included: abdominal pain, headache, nasopharyngitis, nausea and vomiting. Four patients were assessed as having AEs possibly related to study drug, including injection site reaction (mild and self-limiting), hypersensitivity, myalgia, headache, moderate renal impairment (in a patient with a history of moderate renal impairment) and erythema. There were no other clinically significant changes in vital signs, electrocardiograms, clinical laboratory parameters (including liver function tests and lipase tests), or physical examination. The overall safety experience in the ongoing OLE study was consistent with results from the Phase 1 study. No SAEs (excluding porphyria attacks) or discontinuations due to AEs have been reported in the OLE study.
Separately, updated 12-month data from EXPLORE – a prospective, multinational, observational study characterizing the natural history and clinical management of acute hepatic porphyria (AHP) patients with recurrent attacks or who receive hemin prophylaxis to prevent attacks – demonstrate that patients suffer from both acute attacks and chronic symptoms in between attacks, that together result in a diminished quality of life. The annualized attack rate on study was approximately 5 attacks per person with a mean attack duration of 7 days. The majority of attacks (77 percent) required treatment in the hospital, urgent healthcare facility or with intravenous hemin.
Further, in the first analysis of its kind for AHP in the U.S., an analysis of direct costs associated with AHP and recurrent attacks revealed the average estimated annual expenditure per patient ranges from approximately $400,000 to $650,000 of direct costs.

We believe these latest datasets further support givosiran’s potential to transform the treatment of patients suffering from acute hepatic porphyrias, and we look forward to continuing our efforts in rapidly developing givosiran towards regulatory filings and, if approved, to patients.

Wednesday, August 9, 2017

Holly Hamilton joins the APF CEP Facebook group

Welcome Holly Hamilton as our new Moderator the the Closed Facebook CEP group.  Holly and her husband Justin are wonderful parents and folks.  Justin & Holly are the proud parents of 2 adorable children.


They also support the American Porphyria Foundation and spreading awareness.

To learn more about Justin & Holly and how they manage Justins CEP together catch the interview at this link:
  http://www.porphyriafoundation.com/content/justin-hamilton

To learn more about CEP: 
porphyriafoundation.org

To join the CEP FB Group: 
https://www.facebook.com/groups/Apf.CEP/







                      Thank you for supporting the APF!

Friday, August 4, 2017

IMPORTANT NEW RESEARCH STUDY FOR PCT



IMPORTANT!!! A new research study is starting for PCT. The Harvoni Treatment for Porphyria Cutanea Tarda study is Beginning to recruit patients now. Please contact the APF office on 1-866-APF-3635 to find out how to participate.
                           
                                 Remember~ "Research is your key to a cure"

APF Membership

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Is your membership and contact information up to date? If you have moved, please update us with your current address. Also, be sure to send us your email address so you can receive the weekly Porphyria Post.
Donations and/or special contributions are appreciated:
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Protect the Future Fund: The lack of future porphyria specialist is a crisis. There is no special government funding to train new porphyria specialist, so we must do this ourselves. Without financial support, we run the risk of losing knowledge of the disease, quality testing, diagnosis and treatment.
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EPP Have you ever wondered why you have been sunburnt on a cloudy day?

            EPP Have you ever wondered why you have been sunburnt on a cloudy day? The total dose of UV radiation reaching the ...