Cryopyrin-associated Periodic Syndrome (CAPS) Treatment Guidelines – Studies and Other Resources

There are three forms of CAPS, familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MES), and neonatal-onset multisystem inflammatory disease (NOMID). FCAS is the mild form of CAPS, MWS is moderate, and NOMID is the most severe form of CAPS.

Common symptoms for all forms of CAPS include (but are not limited to):

  • Rash
  • Headaches
  • Recurrent fevers
  • Joint pain
  • Conjunctivitis

To learn more about CAPS, here is the Autoinflammatory Alliance information on CAPS and here is the autoinflammatory database.

Studies below include what complications to monitor for, updated research-based effective treatment options, recommended dosing of medications, and other important information for managing and treating CAPS in both children and adults. Only some highlights from each study are included below. For the full study and more comprehensive information, follow the links directly to the study.

In this video, expert Dr. Lachmann of The Royal Free in London discusses CAPS treatment:

Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS)

“The best diagnosis model included: Raised inflammatory markers (C-reactive protein/serum amyloid A) plus ≥two of six CAPS-typical symptoms: urticaria-like rash, cold-triggered episodes, sensorineural hearing loss, musculoskeletal symptoms, chronic aseptic meningitis and skeletal abnormalities.”

Read more here.

Canakinumab in patients with cryopyrin-associated periodic syndrome: an update for clinicians

“Early and aggressive treatment for CAPS patients is crucial to avoid end-organ damage. Most CAPS specific symptoms are reversible if treatment is given early…Growth retardation, CNS inflammation and hearing loss have been reported to improve with anakinra in some patients.”

“CAPS disease activity is monitored by the patient’s assessment of disease activity, by a physician’s examination and assessment of judged disease activity, and by examination of inflammatory parameters at defined intervals. As CAPS disease activity may fluctuate, it is important for patients to take notes of their symptoms in a designated diary.”

“Laboratory parameters such as CRP, ESR, and SAA should be monitored.”

“If the skeletal bones are affected, lesions should be monitored on an annual basis. If the CNS is involved, MRI with fluid-attenuated inversion recovery (FLAIR) imaging is recommended and children under five should be monitored by spinal tap and analysis.”

“CAPS patients should be followed by medical centers specialized in the care of patients with auto-inflammatory diseases.”

“Some NLRP3 mutations are present in the general population without essential association to CAPS symptoms, e.g. the V198M or Q703K sequence variants However, when patients carrying these polymorphisms display clinical symptoms, their response to IL-1β inhibition is less favorable, meaning that dosage and frequency of application have to be increased.”

“…use of canakinumab is associated with a persistent satisfactory control of disease activity but needs progressive dose adjustments in more severely affected patients. The clinical phenotype, rather than age, represented the main variable by which the need for more frequent administrations of the drug at a higher dosage was determined.”

“In one study with six NOMID/CINCA patients (aged 11–34 years), patients received 150 mg (2 mg/kg) or 300 mg (4 mg/kg) every 4–8 weeks. A dose increase up to 600 mg (8 mg/kg) was allowed if needed. In 5 out of 6 patients remission was experienced according to patient’s disease activity diaries. However, CRP remained elevated in 1/6 patients and CNS leukocytosis persisted in 5/6 patients…In all patients the canakinumab dose had to be increased to the maximum of 600 mg (8 mg/kg), which however was well tolerated by adults and children alike.”

Read more here.

Real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome

Overall, complete response (CR) was seen in 72% of CAPS patients, significantly less often in severe (14%) than in mild CAPS phenotypes (79%). Only 53% attained CR on standard dose canakinumab. Dose increase was more commonly required in children (56%) than in adults (22%). Centres with a treat-to-target approach had significantly higher CR rates (94 vs 50%).”

“Conclusion: Real-life effectiveness of canakinumab in CAPS was significantly lower than in controlled trials. Treat-to-target strategies may improve the outcome of children and adults living with CAPS.”

Read more here.

Dose Adjustment of Anakinra (Kineret®) Based on Clinical Response in Patients with Severe Cryopyrin-Associated Periodic Syndromes

“For patients with inadequate clinical response or a disease flare, the dose could be increased by 0.5-1 mg/kg for up to a maximum of 10 mg/kg/day.”

“The actual dose range during the study was 0.9-7.6 mg/kg/day, with the highest dose maintained for 15 months followed by a decrease thereafter. The doses were not only increased for preventing disease flares e.g. rash, fever and elevated CRP but also to preserve organ function, e.g. hearing and vision.”

“Anakinra doses were adjusted based on clinical response in order to achieve systemic inflammatory remission and absence of organ inflammation. In one patient doses up to 7.6 mg/kg/day were needed to control CNS inflammation. Dose adjustments were well tolerated with adverse event reporting rates similar in patients on doses <3.5 and ≥3.5mg/kg/day.”

Read more here.

Recommendations for the management of autoinflammatory diseases

This includes the current recommendations for the treatment and management of cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) and mevalonate kinase deficiency (MKD). These recommendations were developed by the European project Single Hub and Access point for paediatric Rheumatology in Europe (SHARE).

Read more here.

Severe Inflammation Following Vaccination Against Streptococcus Pneumoniae in Patients with Cryopyrin-Associated Periodic Syndromes

“Pneumococcal vaccines can trigger a severe local and systemic inflammatory reaction in patients with CAPS.”

All patients diagnosed with any form of CAPS should discuss this study with their doctors before being vaccinated a pneumococcal vaccine.

Read more here.

2016 Autoinflammatory Alliance Year in Review

One of the Autoinflammatory Alliance slogans

2016 Highlights for the Autoinflammatory Alliance

A special thanks to all our supporters and volunteers that have helped make this year a great one for advocacy, support, and awareness for autoinflammatory diseases.  Here is a short list of some of impact this year.  A donation now will help us be able to do more for 2017 and beyond!  We help thousands of patients every year individually, in our patient groups, and with special projects. We also help hundreds of doctors and medical professionals that use our resources or request materials for their patients, and have collaborated on some groundbreaking research projects.

SUPPORTING THE AUTOINFLAMMATORY ALLIANCE MEANS THAT MORE FUNDS WILL BE AVAILABLE TO:

  • Fund more research-the more we raise, the more we can accelerate new discoveries and help for patients
  • Increase awareness in the United States and internationally about autoinflammatory diseases
  • Produce more educational materials in print and digitally for patients and medical professionals
  • Translate educational materials into more languages
  • Keep the Autoinflammatory Database updated
  • Maintain and update our saidsupport.org blog and the Autoinflammatory.org website

February: Phase II of the Autoinflammatory Disease Damage Index (ADDI) evaluation process was started. In 2015, we started working on the development of the Autoinflammatory Disease Damage Index (ADDI) tool with a collaboration with a global team of researchers, and a survey of a sample of patient volunteers from our Autoinflammatory Alliance patient community.

The initial tool was presented in a poster and abstract at the Autoinflammation 2015 Congress.  In late September, 2015 all the researchers and Karen Durrant, president of the Autoinflammatory Alliance, met for two days to review the preliminary ADDI tool, that was developed based on the patient input in Phase I with the surveys.

In February 2016, we again reached out to our patient community in a larger sample to evaluate the tool, using the 1000minds program, and feedback from the patients led to the final ADDI tool that was presented at the Pediatric Rheumatology European Society (PReS) Congress in September, 2016, and was published in November 2016 in the Annals of Rheumatic Diseases.

Quinn Paduani obtained the Rare Disease Day Proclamation for South Carolina in honor of autoinflammatory diseases.

February 28: Rare Disease Day 2016 involved a month of advocacy and outreach at a local, state, and national levels by the Autoinflammatory Alliance and their supporters. So many members of our patient community got involved this year at their schools to state rare disease day events and many fundraisers! We are so thankful for their dedication and efforts!

Heather Briganti, one of our board members and advocates did a segment on the news in Albuquerque, NM about Rare Disease Day that you can watch here. Dorelia Rivera, our vice-president represented our organization and our patients at the national Rare Disease Day events in Washington DC.

Julie Cunningham, board member and advocate worked with the Global Genes Project for Rare Disease Month awareness, and launched this nice creative project for children to download and use in their classrooms for Rare Disease Day.


March 12: Our first Par2 Prodigy Disc Golf Tournament was held in Golden Gate Park, San Francisco, CA and we had the support of many sponsors, including Prodigy Discs, Infinite Discs, Sports Basement, Crossroads Health & Hospice Care, PrAna, and many others.  Everyone that came had a great time, got a great disc golf set, stickers and knit hats from Prodigy, and nice golf towels and gift certificates from Infinite Discs. We raised a lot of money and awareness for autoinflammatory diseases! Thanks to all that came, even in the rain to support the cause!

March 24: Colleen Paduani, board member and advocate, and her family appeared on “The Balancing Act” national morning television show to raise awareness for NOMID, a rare autoinflammatory disease, treatment with anakinra and the Autoinflammatory Alliance. Watch it here.

Celebrating 10 years of advocacy and awareness for autoinflammatory diseases!

May 1: Our official 10 year anniversary of our organization!  When we started our organization in January 2006, and were officially recognized by the State of California on May 1, 2006 (formerly as the NOMID Alliance), we were the first organization dedicated to autoinflammatory diseases in the United States, and one of only a few in the world (that also started around the same time as us) for these rare diseases. In 2014, we changed our name officially to the Autoinflammatory Alliance.  We decided to celebrate our 10 year anniversary during our second annual Autoinflammatory Awareness Month in August!

Rare Bears were granted to patients, based on their individual interests. Each one is unique!

July: Leading up to our awareness month, we partnered with Rare Science’s RARE Bear Project to have children autoinflammatory diseases get a one of a kind handmade bear mailed to them, that was picked out based on their interests on our sign up form. We had hundreds of children receive their RARE Bears in August for our Autoinflammatory Awareness month, and we donated funds to cover the shipping costs for hundreds of these bears to be delivered to our patients globally.  Many of these children submitted thank yous and photos, that are a part of the RARE Bear Kids photo gallery. If you are interested in a RARE Bear for a child with a rare disease, please submit this form to Rare Science directly.

Some of the attendees at the SF Autoinflammatory Awareness Month picnic

Attendees at the Texas Autoinflammatory Awareness Month gathering

Oceanside, CA Beach Party Our medical advisors, Dr Hoffman and Dr Broderick (lower left) were there too!

August was our Second Autoinflammatory Awareness Month!  We had many of our patients supporting various awareness and fundraising efforts throughout the month, and some of our board members and advocates attended the in-district lobby days to address the needs of autoinflammatory patients directly with their Senators and Representatives when they were back in their hometown in August.

In addition, we had Autoinflammatory Awareness Month patient gatherings and picnics across the US, and even in the Netherlands!  It was nice to have everyone come together, and many patients had not ever met someone with these diseases in person, until they came to one of these events.

2016 Autoinflammatory Symposium

1st Autoinflammation and Immune-Dysregulation Symposium

September 19th was the 1st Symposium of Autoinflammation and Immune-dysregulation at Walter Reed National Military Medical Center (WRNMMC) that launched the collaboration between the National Institutes of Health (NIH) and WRNMMC for a joint clinic for autoinflammatory diseases and research.  We helped to organize, promote, manage tickets and admission to the conference, presented as speakers, and supported the food and additional costs for this conference that were not covered by WRNMMC.  Leading experts on autoinflammatory diseases and research from the NIH and WRNMMC spoke, along with Karen Durrant, RN and Erin Wilson from the Autoinflammatory Alliance. Learn more about this conference here.

Your donations have helped this conference to happen! We want to raise more research funds in 2017 to support more collaborative research to help more patients, and train more doctors on these diseases. This is just the beginning of this joint collaboration with the NIH and WRNMMC, and we are so thankful to be a part of it!

September 27-October 1st: Karen Durrant RN, president of the Autoinflammatory Alliance, and Saskya Appelman, Autoinflammatory Alliance Dutch patient representative, and member of KAISZ represented patients at the Pediatric Rheumatology European Society (PReS) meeting and concurrent meeting of the European Network for Children with Arthritis (ENCA) in Genoa, Italy.

September 30: Karen Durrant, RN, BSN presented a poster and abstract in the poster walk on a collaborative research project that highlighted the impact and challenges of living with an autoinflammatory disease, specifically for patients with Familial Mediterranean Fever (FMF), Mevalonate Kinase Deficiencies (MKD/HIDS), and TNF Receptor-associated Periodic Fever Syndrome (TRAPS).  Here is our blog post with details of this poster and research project.

November 29th: For Giving Tuesday, we got involved with the #Unselfie movement, and also had a very successful fundraiser! Thanks to all that donated, and shared their Unselfies to raise awareness for autoinflammatory diseases, and support the Autoinflammatory Alliance! Take a look at our community Unselfie gallery!  Learn more here.

autoinflammatory-giving-tuesday-2

December 7th: 21st Century Cures Act becomes a law! Some of our board members have been leading advocates for this much needed law, and the Autoinflammatory Alliance, along with many other rare disease organizations. This law will help rare diseases greatly, and was an effort by many in the rare disease community, and Dorelia Rivera, Vice President had an active role in advocating for this as well.

In December, Colleen Paduani, board member and advocate led a fun “Caroling for Cures” fundraiser in South Carolina.  Some other families have been a part of this fundraising effort in the past, and it is a fun way to raise awareness too! Here is a blog post about Caroling for Cures.

Caroling for Cures in South Carolina!

We really appreciate all your support, and your donation makes a difference to many, all year round!  We help almost 4,000 patients in our private, moderated patient support groups online, and many others through direct contact with us via email, phone or from their doctors. Hundreds of doctors rely on our resources to help them educate their patients on these diseases, and also train fellows or learn more on their own about these rare and complex conditions.  Our blog reaches nearly 50,000 visitors a month, in addition to our website and autoinflammatory-search.org. We also mail out printed educational materials to patients and medical professionals, and do not charge for any of our resources. We work hard to raise the funds to make all materials, support, and information open access for all.

But we really need your support, and that of many more to help us to reach our goals. Learn more here, and make a donation today!

SUPPORTING THE AUTOINFLAMMATORY ALLIANCE MEANS THAT MORE FUNDS WILL BE AVAILABLE TO:

  • Fund more research-the more we raise, the more we can accelerate new discoveries and help for patients
  • Increase awareness in the United States and globally about autoinflammatory diseases
  • Produce more educational materials in print and digitally for patients and medical professionals
  • Translate educational materials into more languages
  • Keep the Autoinflammatory Database updated
  • Maintain and update our saidsupport.org blog and the Autoinflammatory.org website

Thank you!

 

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Tips for Resolving Problems with Specialty Pharmacy Medications

Some medications used to treat autoinflammatory diseases can only be obtained through a specialty pharmacy. Photo by tashatuvango/Bigstockphoto

Some medications used to treat autoinflammatory diseases can only be obtained through a specialty pharmacy. Photo by tashatuvango/Bigstockphoto

First, What is a Specialty Pharmacy?

Some medications can only be obtained through a specialty pharmacy. Usually these are higher priced medications used for complex diseases. Many biologics used in autoinflammatory diseases can only be obtained through a specialty pharmacy.

So, you’ve been prescribed a medicine that has to be filled from a specialty pharmacy or even a medicine that costs more than you can afford. What can you do if there are problems getting this medication?

There are actually a few things that you can do. I find it best to complete all the steps even if the medicine finally gets delivered so that you have communicated the issues to all concerned parties.

The first thing is to contact patient assistance at the drug manufacturer. They often have employees that will help you and your physician navigate getting the medicine pre-authorized, and making sure that you can afford the co-pay. You also need to find out if you have private or public insurance because that will clarify who you need to speak with.

If you have private or employee offered insurance, the person in your family that has the insurance plan would need to contact their Human Resource Department and ask if there is any reason the medicine would not be covered. (Often, the employer/human resources will make note of the issue and make sure that when they renegotiate the upcoming year’s plan, the aforementioned medicine tier is included.) If you have public insurance, you would need to contact the number on the back of the card and ask to speak to a plan administrator or coordinator.

Photo by cajoer/Bigstockphoto

If your medication was denied, start by contacting both the specialty pharmacy and your insurance to find out why. Photo by cajoer/Bigstockphoto

What happens if you still can’t get your medicine delivered?

You need to contact both the specialty pharmacy and your insurance company and find out why the medicine isn’t being shipped. It often helps to ask for a patient case manager at the specialty pharmacy. A supervisor would need to appoint you a case manager, so it’s best if you ask for a supervisor’s full name and location.  Often, the case manager is better trained to deal with the higher-end specialty medicines, and are better able to address the specific issues patients are facing in terms of having the medicine delivered.

You can also reach out to the specialty pharmacy through their social media platform. They often have information, and can direct you to a specific troubleshooter within the company. You can email them too.

What happens if all of this doesn’t work?

I would advise contacting your state pharmacy board.  You can file a complaint that will be kept on record about the issues you faced dealing with the specialty pharmacy. At this point, it also behooves you to contact your state Senator. They have staff that are trained to help address health care issues. They can also help draft legislation to better protect the consumers if they see/hear from enough people that this is an issue. I would let them know about the issue, even if the situation resolved itself early on in order to help educate our elected officials about the hurdles rare disease patients face.

I would also contact your Congressperson and Senators. Again, they have staffers specifically trained to help address health care issues constituents are facing. By involving their office, you are once again highlighting the need for better oversight for specialty pharmacies, and the issues rare patients face getting access to their prescribed medicines.

Now what?

Typically, the issue is resolved before you hit the second step. Normally, with the patient assistance program, doctor’s office, and you stepping in to address the issue, the specialty pharmacy company resolves the issue. I implore you to still address your concerns with your elected officials to ask them to help address the situation. Too often we privately complain, but fail to engage the people that can help facilitate change. The more we speak up and out about the issues rare patients face, the more likely we are to facilitate change.

If the copay of your specialty medication is a hardship, contact the manufacturer's patient assistance program. Photo by maxxyustas/Bigstockphoto

If the copay of your specialty medication is a hardship, contact the manufacturer’s patient assistance program. Photo by maxxyustas/Bigstockphoto

What if you simply can’t afford the co-pay?

Most manufacturers have a co-pay assistance program. If you simply type in the medicine name and either patient assistance or co-pay assistance, Google will do all the work for you. Some pharmaceutical companies have programs for people who do not have coverage at all for the medication, or insurance.  Go to the website for the medication you need help obtaining, and they will have some resources and contact info for their programs.

Final Tips

Always take notes of all phone calls and communications.  If your insurance requires a letter of medical necessity or appeal there are templates available online such as these. If all else fails, for rare disease advocacy contact the National Organization for Rare Disorders (NORD) or if you have an autoinflammatory disease, contact us here.