National Organization for Rare Disorders (NORD) and Trio Health Present Findings from Real-World Studies on Rare Diseases

Four patient-driven, natural history studies presented at the International Society of Pharmacoeconomics and Outcomes Research Conference (ISPOR)

NEW ORLEANS, LA / ACCESSWIRE / May 21, 2019 / Trio Health, a leading provider of retrospective observational data on real-world patients, in conjunction with the National Organization for Rare Disorders® (NORD), today announced results from four real-world studies of patients with rare diseases from NORD’s Registry Program. The natural history studies from NORD’s Registry Platform were designed to raise awareness of rare diseases, provide insight into treatments and the associated benefits and risks, to establish a foundation of knowledge and longitudinal data collection for each rare condition, to highlight common attributes across unique disorders, and to accelerate progress for rare disease research and product development. These data are being presented at the International Society of Pharmacoeconomics and Outcomes Research (ISPOR) Conference.

“Patients with rare disorders face difficulties stemming from inaccurate or lengthy time to diagnosis, and limited or absent treatments,” said Brent Clough, CEO, Trio Health. “Compounding their challenges is the overall lack of real-world research and evidence that could help expedite their diagnosis and treatment options. Natural history registries enabled through NORD, and created by rare disease community organizations, provide critical insights into important aspects of treatment, so that ultimately, patient outcomes may improve.”

The following studies are being presented:

PRO65 – THE USE OF PATIENT REPORTED REGISTRY DATA TO IMPROVE HEALTH OUTCOMES FOR PATIENTS WITH OPSOCLONUS MYOCLONUS SYNDROME (OMS). – OMSLife Foundation (https://omslifefoundation.org/)

Opsoclonus Myoclonus Syndrome (OMS) is a rare, orphan disease primarily affecting children between the ages of 1-5 years 1Awareness of the disease among healthcare providers is critical for timely diagnosis and treatment, in order to avoid prolonged neurologic impairment. Data collected from 211 participants residing in 16 countries indicated rapid diagnosis (4 weeks from symptom onset) was realized by half of the participants. The recommended initial treatment for OMS, a backbone of IVIG with two other medications, was utilized for 48% of patients from 2015-18, a 47% increase from 33% utilization pre-2015. These data suggest that despite improvements in awareness, gains are to be made in both rapid diagnosis and use of optimal treatment. Longitudinal data collection through the natural history registry powered by NORD continues, with the goal of improving disease awareness and treatment outcomes for patients with OMS.

PRO68 – THE USE OF A PATIENT REGISTRY TO BETTER INFORM HEALTHCARE DECISION MAKERS AND IMPROVE CLINICAL OUTCOMES FOR PATIENTS WITH PHENYLKETONURIA (PKU). – National PKU Alliance (https://www.npkua.org/)

Phenylketonuria (PKU) is a rare, brain-threatening, inherited metabolic disorder characterized by the inability of the body to utilize the essential amino acid phenylalanine. 2When left untreated, PKU patients are at risk of severe neurological complications, including IQ and memory loss, concentration problems, mood disorders, and, in some cases, severe intellectual impairment. This patient registry study highlights the challenges of living with PKU. Data indicate that most (95%) respondents were diagnosed through newborn screening in the first month of life. Quality of life with PKU was reported as not easy by 94% (61/65) of respondents. One fourth of registry participants (81/323) reported depression, and 38% (126/335) indicated that they had experienced anxiety. Longitudinal data collection continues in the PKU registry on NORD’s Registry Platform with the goal of encouraging research for improving quality of life for these patients.

PRO64 – UNDERSTANDING REAL-WORLD TREATMENT PATTERNS AND QUALITY OF LIFE IN PATIENTS WITH PEMPHIGUS AND PEMPHIGOID USING A PATIENT REGISTRY DATABASE. – International Pemphigus & Pemphigoid Foundation (http://www.pemphigus.org/)

Pemphigus and pemphigoid (P/P) are rare, autoimmune blistering diseases. 3Data collected from 167 participants indicated 53% of patients were diagnosed with Pemphigus Vulgaris, with the remaining individuals diagnosed with 1 of 7+ other diseases. The average age at diagnosis was 48 years and nearly half of respondents (48%, 66/137) were diagnosed more than 1 year from symptom onset. Quality of life was indicated as fair or poor by 24% of overall respondents. Subset analyses indicated a smaller percentage of patients diagnosed with Pemphigus Vulgaris who rated qualify of life as fair or poor compared to other P/P diagnoses (18% v. 31%). These data show that improvement in both timely diagnosis and quality of life are needed. The NORD powered registry continues to collect longitudinal data from patients with P/P.

PRO56 – UNDERSTANDING DISEASE AND BURDEN IN SYNGAP1-RELATED NON-SYNDROMIC INTELLECTUAL DISABILITY (NSID) PATIENTS USING A PATIENT REGISTRY DATABASE. – Bridge the Gap – SYNGAP ERF (https://bridgesyngap.org/)

Predominantly affecting children, SYNGAP1 mutations lead to developmental delay, intellectual impairment, and additional symptoms that are common with other causes. 4As such, confirmation of SYNGAP-related non-syndromic intellectual disability (NSID) is through genetic testing. Participants in the NORD powered patient registry reside in 24 countries, with most participants in the US (54%, 60/112). All respondents indicated diagnosis before age 18, with 54% diagnosed before age 5. 59% of participants were diagnosed more than 1 year from symptom onset. Overall health was reported as good to very good for 76% of patients, though 60% of patients indicated being bothered somewhat to very much by emotional problems, and 76% indicated some impact of disease on everyday functioning.

Four of the studies presented at ISPOR will also be featured in greater detail, including perspective from patients, as part of a forthcoming book published by Trio Health and NORD, entitled ”The Power of Patients: Informing Our Understanding of Rare Diseases”, which will be published in early June.

About Trio Health

Trio Health’s mission is to improve the quality of care in patient outcomes through coordinating the efforts of all patient care stakeholders. The Multi-Disease Platform (MDX) combines disparate data in real-time from physicians and pharmacies throughout the patient journey. The MDX platform provides unparalleled insight to drug manufacturers, physicians, pharmacies, and payers on the performance of real-world patients from a clinical, operational, and financial perspective. Trio Health’s comprehensive insight brings a new understanding of the delivery, use, and outcomes of specialty drugs to optimize the care of real-world patients. Learn more at www.triohealth.com

About the National Organization for Rare Disorders (NORD)

The National Organization for Rare Disorders (NORD) is the leading independent advocacy organization representing all patients and families affected by rare diseases. NORD is committed to the identification, treatment and cure of the more than 7,000 rare diseases, of which approximately 90 percent are still without an FDA-approved treatment or therapy. Rare diseases affect 25-30 million Americans. More than half of those affected are children. NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. For more than 35 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research and providing patient and family services for those who need them most. NORD is made strong together with over 280 disease-specific member organizations and their communities and collaborates with many other organizations on specific causes of importance to the rare disease patient community. Learn more at www.rarediseases.org

1Pranzatelli, M. R. (2016). Opsoclonus-Myoclonus Syndrome. Retrieved April 17, 2019, from https://rarediseases.org/rare-diseases/opsoclonus-myoclonus-syndrome/
2Atwal, P. S. (2018). Phenylketonuria. Retrieved April 17, 2019, from https://rarediseases.org/rare-diseases/phenylketonuria/
3Bystryn, J. (2018). Pemphigus. Retrieved April 17, 2019, from https://rarediseases.org/rare-diseases/pemphigus/
4Michaud, J. L. (2015). SYNGAP1-related NSID. Retrieved April 17, 2019, from https://rarediseases.org/rare-diseases/syngap1-related-nsid/

CONTACT:

For Trio Health
Brad Miles
Solebury Trout
646-513-3125
[email protected]

For NORD
Laura Mullen
[email protected]
203-304-7258

SOURCE: Trio Health

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