Useful websites

A number of other organisations have websites and other useful links that provide great sources of information. Some are related directly to porphyria, others are more general, but may be very supportive in helping you to deal with the complexities that a rare condition brings.

UK Porphyria Medicines Information Service (UKPMIS)

UKMPIS (in conjunction with the Welsh Medicines Information Centre – WMIC) produce a SAFE drugs list which is a vital support for those with an acute porphyria.

The safe list is updated annually using information collated internationally on drug safety over the previous year. New drugs are sometimes added and at other times, drugs are removed following reports of adverse events. It is important that acute patients keep an up-to-date copy with them. Please contact UKPMIS to be added to their database to receive your new copy each year.

Patients or doctors can call UKPMIS for advice on drug options. Drugs not on the safe list should only be taken after obtaining expert advice from UKPMIS or a porphyria specialist. Please contact UKPMIS on 02920 743877 / 020920 742251.

International Porphyria Network

The International Porphyria Network (IPNET) aims to promote fundamental and clinical research in the field of porphyrias, improve knowledge of the porphyrias and facilitate best practice in their treatment and diagnosis by accommodating and interconnecting expert activities.

With members including around 40 specialist centres from around the world, focus points include providing porphyria information and support to patients and medical professionals (in their own language), developing consensus guidelines and using external quality assessments to develop quality standards for clinical and diagnostic advice. Dissemination of drug safety advice is also a priority. See https://porphyria.eu.

Cardiff porphyria service

Cardiff porphyria service have a new website at www.cardiff-porphyria.org. This is one of the key centres for porphyria testing and advice in the UK, and one of only two centres to do genetic testing on confirmed porphyria patients.

BIPNET

The British & Irish Porphyria Network (BIPNET) is a professional forum for specialist clinicians and scientists in the porphyria field.

They work collaboratively to share expertise and promote best practice in the care of patients with all forms of porphyria. bipnet.org

Genetic Alliance UK

The BPA is a member of Genetic Alliance UK, an umbrella organisation that works on issues faced by people with genetic conditions.

They provide information, support families and bring patient voices together to enact change.

Metabolic Support UK

Metabolic Support UK covers all metabolic problems, including porphyria. They supported the setting up of the BPA and provide advice, information and support to children, young adults, families, carers and professionals: www.metabolicsupportuk.org/

XP Support Group

The XP Support Group supports children with Xeroderma Pigmentosum and may be of interest to those suffering with EPP. It aims to relieve the needs of persons with XP and other related conditions and their families. The group raises funds for research, gives grants for UV protective equipment and products, assists families to attend Owl Patrol or respite in a protective environment: www.xpsupportgroup.org.uk.

Contact a family

Contact a Family are a charitable organisation who can offer advice and information on all issues affecting families of children with disabilities, special needs, or rare disorders.

They have information on support groups, medical information, health, special education needs, respite and benefits: www.cafamily.org.uk.

Neuropathy Trust

Neuropathy Trust offers emotional support to people affected by peripheral neuropathy, which may take the form of weakness, paralysis, pins and needles, numbness, burning sensations, and manual dexterity problems: www.neurocentre.com

Saneline

Saneline is a national telephone helpline for those with mental health needs, or their families and friends. Trained volunteers, supported by experienced coordinators, are able to offer support and understanding to callers. www.sane.org.uk

Rare Connect

Rare Connect is an international patient-led initiative. Patient organisations partner and coordinate together to create communities and provide moderators from within their network: www.rareconnect.org/en/community/porphyria.

Rare Minds

Rare Minds is a charity which advocates for, and provides, specialist mental health support for the rare disease community.

You can visit their online Wellbeing Hub for information and resources for looking after your mental health with a rare disease: www.rareminds.org/wellbeing-hub

Mind

Mind provide advice and support to empower anyone experiencing a mental health problem. They campaign to improve services, raise awareness and promote understanding: www.mind.org.uk

Headspace

Headspace offers tools and resources to look after your mind. As well as a subscription app, they have loads of free articles and exercises relating to mindfulness and meditation: www.headspace.com

Drug companies

In addition to the links above, the BPA have links with three rare drug companies, as they provide drugs for those with porphyria:

Orphan Europe
Orphan Europe provides haem arginate (Normosang), this is the main treatment for acute attacks of porphyria: www.orphan-europe.com.

Clinuvel
Clinuvel produces Scenesse, which many with EPP find helps increase their resistance to light. Scenesse is currently undergoing appraisal processes to be able to gain access on the NHS: www.clinuvel.com.

Alnylam
Alnylam produces Givosiran (ALN-AS1) which is a treatment currently undergoing clinical trials and which aims to prevent acute attacks in patients with acute porphyria, i.e. AIP, VP and HCP: www.alnylam.com.

All trials

The BPA support the AllTrials campaign for all clinical trials to have to publish their results.  See the video here