As part of the GM1 & GM2 Tanganil Health Initiative, TREND analyzed the conversations shared in a private Facebook group created as an open forum for parents of GM1 and GM2 afflicted children to share their ideas, thoughts, concerns, and results of Tanganil. Following is our report.
Prepared by Sarah Inoue, PhD
This report is a first look at the information shared on the Facebook group: Tanganil for Tay-Sachs and Sandhoff created as an open forum for parents of GM1 and GM2 afflicted children to share their ideas, thoughts, concerns, and results of Tanganil. It summarizes the conversations that that took place on the Facebook group over the last year (starting in October 2017). The group has 131 members as of September 14, 2018. These members posted 74 times since October 2017 with 525 comments on those posts. Most of the information in this report comes from the comments on the posts. 200 of those comments were kind words to the original poster or someone else commenting, and the rest of the posts and comments had something to say about Tanganil or the disease burden of the person/patient posting.
The report will start with the good news and a list of all of the improvements noted when taking Tanganil. Many people reported improvements, and they may have reported the improvements more than once. Because we looked at anonymized data, we don’t know if the reports are repetitions or new reports, so the number of improvements is not as important as the list of all the improvements noted. We will also note the few times that people were not happy with Tanganil, and their reasons for that.
The main question that came up over and over was about dosing, so after listing the improvements, we will report on the discussions of dosing.
We will then give the information we have on the age of patients, length of time on Tanganil, the diseases mentioned, and other medications taken.
Sadly, three comments or posts mentioned that a child had died. Our hearts go out to the families of those lost, and we hope that this information collected will help in the search for treatments and a cure for these diseases.
The researchers who prepared this report are not doctors, are not providing medical advice and are only reporting what was said in the conversations online.
IMPROVEMENTS WITH TANGANIL
This is a list of the improvements noted while taking the drug. We have tried to classify them based on age. Some of the improvements are clearly observed in infants and some are clearly in older people. In general, the main improvement seems to be better physical strength and quality of life. Balance and smiling/giggling were mentioned frequently when discussing improvements.
Juvenile and LOTS:
Increased hand tremors were mentioned twice. On Tanganil, the trembling in someone or two people’s hands increased to the point where they had to stop taking the medicine and were scared to try it again. Another person remarked that there was no improvement with Tanganil.
All of the improvements were noted after people began taking the drug, but we have little information about how long they were taking the drug when they noticed the improvements. Three people noted that it took a month for improvements to be seen, others mentioned almost instantaneous improvements. 18 people mentioned the length of time they had been on the drug, although we suspect that one of those people was repeating the information, as time passed. People mentioned taking the drug from 2 weeks to 16 months.
Tanganil is not yet approved for these diseases, and no scientific research has determined the correct dose yet. Thus, the question of what the right dose is and what dose will be the most effective is an open one with no clear answer. One post has information specifically from a doctor with the clearest instructions for dosing. It says, “I just received a message from Dr <name> about starter dose for my son <name> part of his email is.............
‘Yes, indeed, we have some promising results in several patients, in particular children with TS. The “starter dosage” would be - 0.05 g per kg per day, given in three single dosages over the day.’”
This dosage information was repeated in other discussions on dosage and seems to be in line with what people were giving children or taking themselves.
One of the questions that also came up around dosing was the issue of taking a break from the medicine or not taking it for a period of time before resuming. This question arose nine times. One person described clearly taking a break every 6-8 weeks. In five months of taking the drug, she or he stopped twice and found this the most effective for improvement of symptoms. Others mentioned not taking a break and finding this the most effective. We have no evidence either way, but we do note that this is an area for further research.
One question asked specifically about a relapse when taking a break from Tanganil. One person mentioned that as far as she knew everyone who paused in taking Tanganil relapsed. This type of break seemed to be longer than the two weeks of a dose break, but it’s not completely clear from the conversation.
Much information was shared about the patients and people in the group. This is a summary of that information.
Not everyone in the group mentioned the disease they have or are caring for, but we found mention of a disease thirty times. Some people may have been repeating information, but because the data is anonymized, we don’t know if they are. This is just to give some sense of the diseases in this community and under discussion.
Age of Patient
Again, not everyone mentioned the age of the patient or their own age. People also grew older during the time frame that we were listening to the conversation. Age was mentioned 24 times. 9 months old and 10 months old had the most mentions (seven combined mentions). Two infants were 11 months and 15 months. Six were two years to 2.5 years old. Two were 3.5 – 4 years old. Then, they stepped up in age 8 years, 9 years, 14 years, 16 years old, and finished with 2-3 people who are 29 years old.
A few people mentioned other medications that are taken to relieve symptoms. Those included four mentions of Zavesca, and one each of Omaprazola, Ayurvedic, Keppra, Onfi, Cannabis oil, Antibiotics, Cord Blood Transplant, Gene Therapy, and Infergen.
A number of conversations mentioned the need for more studies of Tanganil. Everyone, as mentioned earlier, wants to know the best dose of the drug for the maximum effect. A few times, the group had the chance to talk to doctors or researchers and this usually was appreciated. Posts about these conversations received many comments (26 in one case).
Become a Citizen Scientist by sharing your experiences with Tanganil on TREND Community. We will help you turn your anecdotes into evidence that can benefit your entire community.
How it works:
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 firstname.lastname@example.org. 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: email@example.com.
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: firstname.lastname@example.org.
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 email@example.com. 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 firstname.lastname@example.org.