As mother day approaches, one of our TREND Community members reminded us today that rare disease can have a huge impact on the mother/child relationship. She asked some very powerful questions and we would like to extend them to all of our rare disease groups.
If you are a child living with a rare disease, how has the disease affected your relationship with your mother?
If you are a parent of a child with a rare disease, how do you think your child’s diagnosis has shaped your relationship with him/her?
If you have other children, how do you think rare disease has impacted their relationship with you?
In a few words how has living with rare disease impacted your family?
Please feel free to share any other thoughts relevant to this topic.
If you would like to participate, please login to TREND and add begin a new journal entry with #mothersday. If you are not yet a member of TREND Community, you can join on our web page www.trend.community (scroll to the bottom and request an invitation).
At the end of the week we will post a blog about the data that we collect and summarize your answers in an infographic. Participation will be anonymous and only summary data will be shared. TREND Community output cannot be linked back to individual participants and individual experiences are never shared without permission.
As part of the implementation of PDUFA VI and 21st Century Cures, the FDA is continuing to develop guidance to enable more widespread usage of patient experience data to inform regulatory decision-making and is trying to best address the questions of defining it and what methods to collect it that will be most acceptable for benefit-risk assessments.
What is Patient Experience Data?
Data that are collected by any persons and are intended to provide information about patients’ experiences with a disease or condition. It includes the experiences, perspectives, needs and priorities of patients related to (but not limited to):
– Symptoms of their condition and its natural history
– Impact of the conditions on their functioning and quality of life
– Experience with treatments
– Input on which outcomes are important to them
– Patient preferences for outcomes and treatments
– Relative importance of any issue as defined by patients
(Source: Title III, Section 3002(c) of the 21st Century Cures Act)
Who can collect this data?
Any persons including patients, family members and caregivers of patients, patient advocacy organizations, disease research foundations, researchers, and drug manufacturers
How to Collect This data?
Gathering patient experience data is about understanding a human perspective, and therefore uses data collection techniques from the social sciences, not the bio-chemical and medical techniques that pharmaceutical researchers have been using. Thus, the emerging guidance discusses ways to do good research in the social sciences. The main methods discussed are surveys/questionnaires, interviews and focus groups. These are good methods for eliciting people’s opinions and experiences, although there are others such as observation or analysis of conversations on social media.
TREND Community uses natural language processing and the machine learning techniques that accompany it on social media conversations to effectively and efficiently gather patient perspective and experience data to listen to what patients and caregivers are saying in their everyday lives. This novel technique has captured the interest of the FDA. We have had and are continuing to have conversations with the FDA regularly to hopefully clear the way for social media analysis techniques to be acceptable to help support better data collection and get the true patient voice heard.
Slides from FDA Workshop on Draft Guidance for Patient Experience data
Statement from FDA Commissioner 3/30/18
Patient-Focused Drug Development: Developing and Submitting Proposed Draft Guidance Relating to Patient Experience Data; Public Workshop; Request for Comments
capturing the patient perspective on living with congenital rubella syndrome
February 1, 2018 – TREND Community is excited to announce The CRS Patient Voice Initiative to capture the patient perspective on living with Congenital Rubella Syndrome.
Rubella is an infection caused by a virus, which when contracted by a pregnant woman leads to Congenital Rubella Syndrome (CRS). This underserved group hopes to raise awareness about CRS and collect data to inform: the healthcare system to better recognize, research, and alleviate the symptoms of this disease; government to gain recognition of the disease as a disability and lifelong problem; and survivors of the syndrome to give a clearer picture of the disease.
The CRS Community will join TREND and share their stories, daily experiences through journals and years of social media data. All participants will consent to share agree to share their data with TREND Community and back with the CRS Community. Using natural language processing and machine learning techniques, TREND Community will analyze this data to gain insight into the disease burden and progression of CRS. TREND Community’s Voice of the Patient Report will inform the medical and research communities. And using what we learn, TREND Community will organize a targeted Health Initiative to empower its patients & caregivers to explore a solution that could ease the burden of one or more of their daily challenges.
About TREND Community
TREND Community is a digital health company with a mission to accelerate the search for treatments and cures while improving the quality of life for individuals living with rare disease. Our flagship application is an invitation-only network of consented patients and caregivers living with rare disease who are engaged in community powered science.
If you are interested in this Exploration, or would like to start your own Exploration, contact us email@example.com. Follow us on Twitter @TrendCommunity.
The FA Patient Voice Initiative: capturing the patient perspective on living with Friedreich's Ataxia
Note: The following Health Initiative announcement was written in collaboration with The Chion Foundation (chionfoundation.org).
While originally identified as a key immunological molecule in the allergic response of humans, histamine is actually an evolutionarily-primitive molecule that plays many fundamental roles across many animal phyla. Humans possess four histamine receptor subtypes: histamine 1 receptor (H1R) through the histamine 4 receptor (H4R). The H3R drew our attention because it appears to achieve its homeostatic function via regulation of the release of various neurotransmitters including serotonin, acetylcholine, and dopamine.
If H3R were a critical receptor in the pathophysiology of Prader-Willi Syndrome (PWS), this would explain why it has, to date, been difficult to identify a satisfying single genetic cause for PWS. While the role of the H3R has not yet been studied in PWS, research has revealed dysfunction in neurotransmission in patients with PWS. Specifically, the serotonergic system and, possibly the dopamine system, appear to be compromised in individuals with PWS. Dopamine is also known to play an important role in feeding and satiety. We note that the neurotransmitters that are dysregulated in individuals with PWS are those that are regulated by the H3R.
While improved wakefulness alone would be a major improvement in the quality of life of individuals with PWS, there are many reasons to believe that the neurologic benefits of pitolisant in the PWS population might extend beyond improving wakefulness. For example, many individuals with PWS struggle with mental health issues and learning disabilities which could potentially be improved by pitolisant. Moreover, research suggests that the cognitive enhancing activities of drugs such as pitolisant may help protect against schizophrenia, attention deficit disorder, and other cognitive disorders. Lastly, children with PWS are often plagued with severe gastrointestinal problems that remain difficult to treat. Pitolisant may affect multiple cells in the gastrointestinal tract and could theoretically improve these symptoms. For these reasons, we propose that it is biologically plausible that pitolisant would be useful for the PWS patient population, not only in the treatment of excessive daytime sleepiness, but that it could also improve the ability of individuals with the syndrome to respond to environmental stressors such as changes in temperature, high glucose loads, and complex social interactions.
While pitolisant is currently only available in Europe, the Chion Foundation and TREND Community are working with the US Food and Drug Administration (FDA) to help individuals personally import pitolisant from Europe based upon the FDA’s discretion. (www.fda.gov/ForIndustry/ImportProgram/ImportBasics/ucm432661.htm). Participants will be invited to document their experience with pitolisant on TREND Research.
If you would like to participate in The Pitolisant Initiative or have questions, please contact us: firstname.lastname@example.org.
TREND Exploration Series
June 2016 - TREND is excited to announce the AS Diet Initiative to explore the benefits of nutrition therapy for Angelman Syndrome (AS).
Sponsored by Gary Taubes, co-Founder and Director of Nutrition Science Initiative (NuSI), and Robert Goldstein, Founder of Crave Crush, and led by internationally renowned, consultant nutritionist to the Charlie Foundation for Ketogenic Therapies, Beth Zupec-Kania (RDN), the AS Diet Initiative will introduce a group of individuals with AS to a pre-ketogenic diet and track patient‐reported outcome measures including hunger, cognition, behavior, energy, body composition and quality of life. TREND Community Champion Sybille Kraft Bellamy whose son, Max, has benefited from Low Glycemic Index Treatment (LGIT) for 11 years, will join the Initiative as a parent mentor. Sybille is currently studying to become a Registered Dietician.
Over 90% of people with Angelman Syndrome have epilepsy. Clinical research by Thibert et al. published in Epilepsia in July 2012 found that a Low Glycemic Index Treatment (LGIT) is highly effective in treating AS-related seizures. Anecdotal reports from parents of children with AS suggest that nutrition therapy may have similar benefits as described by the Prader-Willi Syndrome (PWS)* Community during the PWS Diet Initiative.
The PWS Diet Initiative: In August 2015, TREND invited Beth Zupec-Kania to follow and advise a group of individuals with PWS for 6 months to explore the effectiveness and benefits of a modified ketogenic diet for those living with this rare condition. Journal entries from families reveal that the modified ketogenic diet was beneficial to their children (including hunger, cognition, behavior, energy, body composition and quality of life) despite the burden of meal preparation.
Having learned about the PWS Diet Initiative, Sybille Kraft Bellamy contacted TREND to host a Diet Initiative with the AS Community.
*PWS and AS are sometimes called sister disorders because they are both caused by the absence or lack of expression of one parent’s contribution to chromosome 15 (paternal in PWS and maternal in AS).
If you would like to participate in the AS Diet Initiative or have questions, please contact us: email@example.com.
A review of the Trend Community PWS Diet Initiative
Published July 19, 2016
A collaboration with The Charlie Foundation for Ketogenic Therapies
TREND EXPLORATION SERIES
Trend is excited to announce its 2nd Exploration focused on diet as an intervention in Prader-Willi Syndrome.
Outside of the ketogenic diet for the treatment of epilepsy, the importance of diet & nutrition in orphan disease as clinical intervention is not well understood. Anecdotal reports from parents of children with Prader-Willi Syndrome (PWS) suggest that a modified version of the ketogenic diet may have beneficial effects in PWS. Although diet has been extensively used and studied as a therapeutic intervention for epilepsy, its use as an intervention for those with PWS has not been tested in clinical trials.
In August 2015 Beth Zupec-Kania, consultant nutritionist for the Charlie Foundation, followed and advised a group of individuals with PWS for 6 months in order to explore the effectiveness and benefits of the ketogenic diet for those living with this rare condition.
The Diet Initiative concluded in February 2016 and the results will be presented at the IPWSO conference in July 2016.
If you are interested in this Diet Initiative, or would like to start your own Exploration, contact us firstname.lastname@example.org. Follow us on Twitter @TrendCommunity.
TREND EXPLORATION SERIES
Trend Community is excited to announce our 1st Exploration. Currently, our focus is on environmental intervention in Prader‐Willi Syndrome and its co‐morbidities.
Outside of the ketogenic diet for the treatment of epilepsy, the importance of diet & nutrition in orphan disease as clinical intervention is not well understood. Anecdotal reports from parents of children with Prader‐Willi Syndrome (PWS) suggest that a modified version of the ketogenic diet may have beneficial effects in PWS. Although diet has been extensively used and studied as a therapeutic intervention for epilepsy, its use as an intervention for those with PWS has not been tested in clinical trials.
On March 3rd Team Hopefull will join the Give RARE movement to raise money for a series of TREND Explorations looking at diet & nutrition as an intervention for PWS. Beth Zupec‐Kania, consultant nutritionist for the Charlie Foundation will follow and advise a group of individuals with PWS in order to explore the effectiveness and benefits of the ketogenic and related diets for those living with this rare condition.
The PWS Diet Initiative’s Steering Committee is in the process of finalizing the Plan for this Exploration.
With two phases over a six month period this Exploration will introduce fifteen participants to a modified ketogenic diet for the purpose of understanding intervention potential based on patient‐reported outcomes including hunger, cognition, behavior, body composition and quality of life.
Sufficient quantitative and qualitative data to suggest relationships between levels of dietary intervention and patient‐reported outcomes for the purpose of informing future research.
TREND is an information‐sharing platform where communities of patients suffering from chronic diseases, their caregivers and medical professionals can track and share real time health information in order to collectively evaluate the effectiveness of therapies, diet and other interventions.
If you are interested in this Diet Initiative, or would like to start your own Exploration, please contact us at email@example.com.
TREND Community & PWSA USA OXYTOCIN INITIATIVE
TREND Community and PWSA (USA) are excited to support Drs. Jennifer Miller and Dan Driscoll in their endeavor to gain FDA approval to make oxytocin a standard of care for Prader-‐Willi syndrome (PWS).
A Phase 1 study of intranasal oxytocin for the treatment of PWS, funded by PWSA (USA), the National Institutes of Health and gifts from the community, suggests that oxytocin administration has the potential to change the natural history of PWS, improving the lives of those afflicted with this chronic condition. Anecdotal reports of its benefits are circulating on social media and the families who participated in this study are asking what the community can do to make oxytocin readily available.
PWSA (USA) has selected Jennifer Miller, MD and Dan Driscoll, MD, PhD from the University of Florida to lead this multi-‐site, dose finding phase 2 trial. They have over 45 years combined experience treating patients with PWS and conducting research. In an effort to fast track the launch of this important study, PWSA (USA) has joined with the TREND community to raise the one million dollars required by year-end.
PWSA (USA) is currently accepting donations to fund a Phase 2 dose-‐finding, multi-‐center clinical trial of oxytocin in children with PWS.
Tax-deductible gifts designated for the “Oxytocin Initiative” may be sent directly to:
8588 Potter Park Drive, Suite 500
Sarasota, FL 34238
Or donate or raise money online: www.firstgiving.com/pwsausa/oxytocin-study
More details about this fundraising initiative will follow in the coming weeks.
ABOUT TREND Community
TREND Community is an information sharing platform where communities of patients suffering from chronic diseases, their caregivers and medical professionals can track and share real-‐time health information in order to collectively evaluate the effectiveness of therapies, diet and other interventions.
ABOUT PWSA USA
PWSA (USA) was organized in 1975 to provide support for individuals, families, professionals and organizations and to be a resource for education and information about PWS. A full 80% of our budget goes to funding programs to benefit PWS, including research, medical, and crisis & family support.