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World Orphan Drug Congress USA 2019 & World Alliance of Pituitary Organizations (WAPO)

Washington, DC & Lyon, France

Spring, 2019

Two scientific conferences in Spring 2019 on opposite sides of the Atlantic showcased promising scientific breakthroughs and tools for Cushing’s and adrenal insufficiency (AI) patients.  Teams pitched four drugs under development designed to assist Cushing’s and AI patients at The World Orphan Drug Congress USA 2019 in Washington, DC, while the World Alliance of Pituitary Organizations in Lyon, France, featured data from new quality-of-life studies and the first textbook for endocrine disorders written by endocrine nurses.

World Orphan Drug Congress USA 2019


One of the most exciting parts of the World Orphan Drug Congress were the “pitches” delivered by the orphan drug development teams.  Per Wikipedia, an “orphan drug” is defined as “a pharmaceutical developed to treat medical conditions which because they are so rare, would not be profitable to produce without government assistance…the assignment of orphan status is a matter of public policy and has yielded medical breakthroughs that might not otherwise have been achieved.”  Here were some of the most promising pitches aimed towards improving quality of life (QoL) for Cushing’s patients (this is not an endorsement):

  • TBR-065 and TBR- 760: Imran Babar, Chief Business Officer at drug accelerator Cydan II, pitched two drugs under development by portfolio company Tiburio targeted towards neuroendocrine disorders: TBR-065 for treating rare endocrine disorders including Cushing’s Syndrome, and TBR-760 for treating non-functioning pituitary adenomas (NFPA). 
  • ST-002: Shortly thereafter, SteroTherapeautics CEO Manohar Katakam presented ST-002, a DHEA analog and anti-glucocorticoid that would address the hyperglycemia and non-alcoholic steatohepatitis (NASH – non-alcoholic fatty liver disease) affiliated with Cushing’s.  It is the only drug under development as a cortisol antagonist for Cushing’s Syndrome, and has demonstrated anti-obesity properties in over 100 patients in multiple clinical trials. Mr. Katakam claimed that ST-002 does not lower cortisol levels, mitigating the potential for accidentally inducing adrenal crisis.
  • Cibinetide: Joe Young, Chief Business Officer at Araim Pharmaceuticals, pitched a drug that would promote healing of damage in the cardiovascular and neural cells.   Although the drug was designed for sarcoidosis and diabetic neuropathy, it could serve to enhance the recovery for Cushing’s patients and perhaps mitigate damage to the cardiovascular and neurological systems.
  • OSSGROW– Satyen Sanghavi, from Regrow BioSciences based in Pune, India, discussed the success rate of using live cultured osteoblasts for regenerating hip bone tissue lost to vascular necrosis, which is a side effect in 5% of Cushing’s patients.   Ideally, the osteoblasts can preserve the femoral bone from breakdown and hopefully avert the need for hip replacement surgery.


Several new tools are now available for Cushing’s and rare disease patients to interact with the Food & Drug Administration (FDA).  The FDA recently appointed a new Director of Professional Affairs and Stakeholder Engagement, CDR Eleni Anagnostiadis, RPh, MPM, at the Center for Drug Evaluation and Research in Silver Spring, MD. Over lunch, she discussed how she was overseeing the build out of the patient outreach program and the March 2019 launch of the new FDA patient advocacy portal,  The portal is designed to give patient advocates a single entry point to the FDA for questions and meeting requests, and routes requests to the appropriate internal FDA office.  The FDA has a Twitter account, @FDAPatientInfo, and is available at 1-888-INFO-FDA. 

During follow-up roundtable discussions with pharmaceutical representatives and scientists, participants had a heated exchange about the need for involving patients in every step of the development process.  Although several pharmaceutical representatives debated the necessity of patient involvement (with one representative going as far as to comment that she did not want to “burden” the patients), the emerging consensus was that patient input is vital to the development process for both pharma companies and patients alike.  Mr. Babar is actively seeking patient representatives to work with Tiburio on the development of its Cushing’s drugs. For those who are interested, please contact Amy Dahm at [email protected].  Dr. Nerissa Kreher, Chief Medical Officer for Tiburio, attended the CSRF Patient Journey Summit last year and presented a discussion about bringing a rare disease to market.  We are glad that all Cushing’s stakeholders seem to be on the same page as far as the importance of the patient voice at all points in drug and policy development.


Data analysis is one of the new pioneering solutions for diagnosing Cushing’s earlier and conducting vital research on patient populations.  Two presentations in particular discussed innovations in data research and analysis for Cushing’s patients.

  • HVH Precision Analytics & Diagnosing Cushing’s Earlier

Oodaye Shukla, Chief Data & Analytics Officer with HVH Precision Analytics, discussed the methodology his company uses to analyze data to find potential patient clusters using symptomology.  This allows HVH to inform doctors in the area about specific rare diseases and gives them a “heads up,” leading to faster diagnoses.  HVH has already conducted an initial survey about four years ago and is seeking to partner with patients and patient organizations to complete a full survey.  If anyone is interested in helping to spearhead this project, please contact Amy Dahm at [email protected].

  • Rare Disease Registry Program (RaDaR)

There is a lot of debate in patient advocacy circles about patient registries and the best way to build them.  Anne Pariser, Director of the Office of Diseases Research at the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health, discussed the launch of RaDaR, which is an online tool designed to help patient groups navigate and facilitate the process of setting up patient registries. RaDaR features best practices, lessons learned, and emphasizes data quality, standards, and sharing within registries. https://registries.ncats.nih/gov.  It launched with new material February 2019.  CSRF is in a “gathering more info” stage about a possible patient registry; stay tuned.

World Alliance of Pituitary Organizations (WAPO)

The 2019 gathering of the World Alliance of Pituitary Organizations (WAPO) in Lyon, France was the most dynamic yet and included: 

  • the first joint session with WAPO, the European Society of Endocrine Nurses, and the French Endocrine Nurses Group during the European Society of Endocrinology (ECE) on May 18;
  • the unveiling of a revolutionary new patient-centered textbook for treating AI and other endocrine conditions;
  • dynamic new research validating decades of patient feedback;
  • and novel patient-centered approaches for dealing with endocrine conditions. 

All of the sessions had simultaneous English and Spanish translation and delegates –including patients, researchers, doctors, and pharmaceutical representatives — converged from patient advocacy groups across North America, Europe, South America, and Asia to share best practices and experiences. This year’s WAPO summit will be in Buenos Aires, Argentina, about the time this newsletter begins to mail out!

Andrei Andrusov, a Russian business man and math expert, founded WAPO five years ago after helping his brother navigate treatment for acromegaly.  As someone who grew up in the USSR and attended university in the United States, Mr. Andrusov recognized that patients have varying levels of treatment, accessibility, and expertise across the globe, and that it is possible to save lives by setting patient-focused standards and sharing best practices.  WAPO is truly a global organization – it has patient advocates from all over the world.  It is run by Muriel Marks, a Dutch Cushing’s patient affiliated with Dutch advocacy group Bijniervereniging and co-founder of AdrenalNET.  Muriel attended and presented at our Patient Journey Summit in October.


Ms. Yedinak, a patient advocate, gave a broad overview about AI.  Although the causes are varied (genetic, autoimmune, infections, steroids, tumors, hemorrhages, and/or narcotics), the treatments are fairly streamlined, and include hydrocortisone, prednisone, and dexamethasone.  Ms. Yedinak discussed the various problems patients with AI face, including individual needs, lifestyle and event variability, and variance in interpretation of current guidelines and availability and content of education. Data is absent regarding best practices, and there are no agreed-upon standards for education.

One approach that does seem to have some success is a steroid education group meeting, per Repping-Wuts.  The program was comprised of a three-hour lecture/video/ demo workshop, and then pre and 6 months post-evaluation.  It resulted in reduced symptoms, reduced adrenal crises, and lowered mortality, and was focused on the self-adjustment guidelines.


At the first joint WAPO- ESE joint session, Dr. Sofia Llahana introduced the first endocrine book written by endocrine nurses, Advanced Practice in Endocrinology Nursing, endorsed by the European Society of Endocrinology.  It has a full chapter on adrenal crises and how to handle them, and it goes into extensive detail on the rarest of endocrine conditions, including acromegaly, Cushing’s Syndrome, and AI.  It is designed for caregivers and patients, by carers.  In addition to the book, individual chapters are available for download online at (NOTE: CSRF’s own Dr. Margaret Keil is one of the pediatric editors.)


In the same joint session, Dr. Llahana announced the creation, under the auspices of a European Society of Endocrinology, of a new, multi-year, patient-centered, comprehensive study about AI; she is actively soliciting input from rare disease patients and advocacy groups.  Per Dr. Llahana, the project aims are two-fold: 1) to describe current service provision and patient education for patients with AI and identify gaps and needs; 2) develop a position statement on standards for patient education and care services in AI. 

The first phase of the study will be comprised of an on-line survey of nurses, endocrinologists, and patients translated into different languages. It will cover demographics of AI; treatment approaches; barriers and facilitators to prevent and treat AI promptly; service delivery; and patient education and experiences.  Any Cushing’s patient with feedback, questions, or subject matter for Dr. Llahana to include in the study may e-mail her at:  [email protected]


Finally , Dr. Llahana discussed the formation of an ECE mission statement  and an Endocrine Society Clinical Practice Guideline for AI.  The ECE-approved guidelines recommend: annual patient monitoring, patient education for adjusting dosing on sick days, and most importantly for patients still debating with their doctors about the need for emergency injections:  ALL PATIENTS SHOULD BE EQUIPPED WITH A STEROID EMERGENCY CARD AND A GLUCOCORTICOID EMERGENCY SHOT. [Note: in the United States, this would be the 100 mg shot of Solu-Cortef]


Co-founders Johan Beun and Muriel Marks of European patient advocacy group BijnierNET (AdrenalNET) run, a website with the tagline “everything about adrenal gland disorders.”   The site covers adrenal-related illnesses and is in multiple languages, including Danish, Dutch, French, and German.  The site offers various adrenal-related tools for free, including European Emergency cards in various languages, including French, Czech, and Icelandic.  Per Ms. Marks, “all information is validated after the Dutch and EU countries and is kept up to date.”

AdrenalNET will soon launch an adrenal app in English that provides “crucial medical information…any time of the day or night” and “helps to collect and access crucial information.”  It offers instruction for medical staff about how to treat a medical crisis and is also geared towards the loved ones of adrenal patients.  Visit for more information or scan the QR code.


Quality of Life: Dr. Elena Valassi

During the course of the WAPO meeting, several new doctor and patient-led research initiatives and case studies were highlighted.  Dr. Elena Valassi from the Hospital Sant Pau in Barcelona, Spain, presented groundbreaking QoL data gleaned from the national European patient registry (ERCUSYN – or scan QR code) that validate decades of patient feedback.  Older age, female gender, hypopituitarism, AI, and brain structure are biological and physiological variables for recovery. She highlighted how depression, impaired physical functioning, bodily pain, and poor general health persist during remission from Cushing’s.  Symptom status, including depression/ anxiety, lack of attention, sleep disturbances, weight gain, and muscle weakness are key determinants of quality-of-life.  Her research showed that 19% of patients had to cease work altogether while 43% needed some sort of reasonable accommodation or working arrangements.  And social and family life, sex life, relationships – not just work—impact patient’s functional status.  Her research also demonstrated that pituitary patients had a slightly more difficult recovery than adrenal patients.

Dr. Valassi noted that previous exposure to excess cortisol leads to persistent alterations in several target organs.  Brain impact leads to persistent mood and cognitive problems; muscle damage leads to loss of strength, low performance, and tiredness; overall metabolic damage leads to increased risks of diabetes, hypertension, and negative body image; and bone issues lead to pain, osteoporosis, and fractures in many patients.  There were structural and functional changes in the brain of Cushing’s patients in remission for 11 years, including reduction of grey matter volume; increased cerebellum volume; reduced white matter integrity (associated with depression); and hypoactivation of brain areas during processing of emotions.  Low muscle strength and impaired physical performance was associated with poor QoL even 11 years out, manifesting as pain, lack of vitality, and mood issues.

Even after a mean of 13 years of remission, subtle cognitive impairments, including issues with cognitive function, memory (concentration, verbal memory, visual memory), and executive function (information processing speed, cognitive flexibility) remained in the client population.  Remarkably, increased prevalence of psychopathology and maladaptive personality traits remained after a mean of 11 years in remission, including submissiveness, cognitive distortion, identity issues, affective liability, compulsivity, oppositionality, anxiety, conduct issues, suspiciousness, social avoidance, and insecure attachment.


There was a spirited audience discussion about European vs American protocols after a post-op AI patient, who had weaned off of steroids as part of her course of treatment for Cushing’s, asked when she would be “in the clear.”  She mentioned having heard that some patients reported having adrenal crises over a decade after their remission.  Her American doctors had told her to follow the “Sick Day Rules” for up to a year after she had successfully weaned off of steroids and her remaining adrenal gland started working.  Unlike American protocols, many members of the European AI community are more conservative and believe that once a patient has AI, the patient is “AI for life” and susceptible to adrenal crises.  When discussing these issues, one of the patient advocate experts spoke up and said that no one really knows, as no long-term studies have been performed on AI patients.

One of the facts that came up was that once a patient has experienced an adrenal crisis, they are THREE TIMES as likely to experience another.  So prior adrenal crises is a risk factor in and of itself.


Dr. Aude Brac de la Perriere and Alexandrine Bost from the Federation d’Endocrinologie Groupemont Hospitalier Est in Lyon, France, presented a case study on the successes of Therapeutic Education in Adrenal and Pituitary Insufficiency (TPE).  They defined adrenal crisis as the “mismatch between cortisol supply and demand, especially under conditions of physical and psychological stress.” TPE has three different steps:  educational diagnosis, sessions, and program evaluation.  Their recommendations are:

*Carry an emergency kit (cards, tablets, and injection kit)

*Identify adrenal crisis: signs and risky situations

*Know to adjust steroid doses

*Know risk of overdose

*Know how to administer Solu-Cortef injection

*Know how to use relevant resources in the healthcare system

Two flagship teams in Lyon and Marseilles from the national reference center led the way, while the French Endocrine Society developed two different programs. Six nurses and two endocrinologists built the workshops and doctors selected patients. The workshops were held in a one day format and the trainers typically were one or two doctors or nurses. There were eight sessions.  The agenda included workshops entitled

  • Understand my Adrenal Illness
  • Understand and Manage my Adrenal Treatment
  • Prevent and Manage AI
  • Know How to Do my Injection
  • Manage the Effects of the Disease on a Daily Basis

The education sessions included descriptive posters of the endocrine system as well as Role Play/ Scenario cards.  Patients were sent home with models of emergency kits, booklets for adrenal crisis, and advice for patients re: high temperatures, jet lag over six hours, sports and training, pregnancy, and every day situations. Doctors received advice in cases of endoscopy; general anesthesia for surgery, trauma, and delivery; and dental care.


Sammy Harbut from the UK is a Cushing’s patient in remission. She turned to occupational therapy as a profession as part of her recovery from Cushing’s, as she knows firsthand the benefits that can be reaped by patients. When she became ill with Cushing’s, she knew that she could not return to her former position and started to consider other options.  Working with patients with all sorts of different illnesses has been fulfilling and rewarding to her, and a major part of her own recovery.  She did not ever expect to go into occupational therapy, but is extremely happy helping others and is eager to share the benefits with other Cushing’s patients of something she considers an essential element of recovery.

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