Alex Klein, PhD, CurePSP’s VP of Scientific Affairs, hosted a 30-minute Facebook presentation this Tuesday. It was poorly publicized. CurePSP didn’t even mention it on its own website or its own online support group! (Nor did it get the word out to support group leaders.) And CurePSP had mis-set the privileges on its Facebook page such that you got an error message unless you were already logged in to FB. Despite all that, many people joined in.
I listened to the excellent talk today and jotted down some notes. Since I’ve been attending the CurePSP research symposia for a few years (and just attended from the 2016 symposium in late October), there’s nothing new for me here. But, for most of you, I think these will be the most interesting points about research:
* 97% of all cases of PSP are not familial.
* Researchers can’t yet give a satisfactory answer about the role of the environment in causing PSP. In Parkinson’s studies, well-water appears to be a cause. A recent PSP study showed that well-water doesn’t cause PSP. The only thing found that might increase the risk for PSP is a low educational attainment. This brings us to secondary factors such as occupation. For example, if you have a lower educational level, maybe you are more apt to have an industrial job, where you are more exposed to environmental toxins.
* In the US, a “rare” or orphan disease is one where there are fewer than 200K patients. In the US, there are about 20K patients with PSP. In 1983, the Orphan Drug Act was passed by Congress, giving tax incentives for pharmaceutical companies. The procedures of clinical trials are the same. However, the requirements in terms of statistical power are much less. Instead of 1K for an Alzheimer’s clinical trial, we only need 100-300 PSP patients to participate. Reporting requirements are less frequent. And outcomes or endpoints are closer, or shorter, after starting the treatment. This means the cost for clinical trials are much lower in PSP. Since both PSP and Alzheimer’s are tauopathies, if we have a cure for PSP, we may have a cure for Alzheimer’s disease. That’s why drug companies are funding research into PSP clinical trials.
* The Association for Frontotemporal Degeneration and the Bluefield Project created the FTD Disorders Registry. The Tau Consortium is now supporting the Registry, and CurePSP will be joining the registry soon. The registry is a way to link clinical researchers with participants.
Robin’s note: FTD is an umbrella term that means frontotemporal degeneration; it includes PSP and CBD. The FTD Disorders Registry has a website – ftdregistry.org – which is marked as “coming soon.” I heard a talk in May on the registry where the coordinator said it would be launching in July. Then I heard a talk in October where the coordinator said it would be launching in November or December. So I’m hoping for early 2017! Those with PSP and CBD and family members are invited to participate. Even family members whose loved ones have passed away will be invited to participate.
The “transcript” of sorts is copied below with some of my notes. And I’ve provided a link to the 30-minute video in case you’d like to watch yourself!
Robin
Since CurePSP’s Facebook page requires you to be logged in to FB to view the page, I think it’s best to share a link to the CurePSP video that we’ve posted to the Brain Support Network FB page:
https://www.facebook.com/BrainSupportNetwork/
Alex Klein, PhD
VP of Scientific Affairs, CurePSP
Facebook Live Video
November 15, 2016
Notes by Robin Riddle
(Time is counting down. Clock starts at 32:38)
31:38 Is this disease hereditary? Is there a familial component?
No. 97% of all cases of PSP are not familial. Genetic testing is not needed.
Twenty different mutations have been identified. Main mutation in protein of tau. If you have the tau mutation, it’s likely you’ll develop PSP. In most cases, PSP is sporadic.
30:11 Risk factors of developing PSP
STX6 – garbage disposal system of cell
EIF28K3 – protein production
MOBP – mylenation of neurons (insulation of neurons in brain)
Genetics Consortium is a joint effort of CurePSP and the Tau Consortium. Goals are to Identify more risk factors and find targets for drug development
28:45 How are these diseases related in general?
Protein misfolding is a common characteristic of AD, PSP, CBD, and MSA.
Our whole body and brain consists of proteins. Systems can go wrong. Proteins can accumulate. Proteins can become toxic and cause neuronal death.
Different proteins go wrong. In Alzheimer’s, it’s A-beta and tau. In PSP, it’s mostly tau. PSP is called a pure tauopathy, which isn’t entirely accurate because other proteins go awry. In PD and MSA, it’s alpha-synuclein.
26:05 Are there environmental causes (chemicals, metals, pesticides) of PSP? Has research been done? Can we do anything about this after exposure?
Can’t give you a satisfactory answer. There are hints that environmental toxins that cause PSP and related disorders. We still don’t know which ones [toxins]. How do we find out which toxins cause problems?
In Parkinson’s studies, well-water may cause PD. A recent PSP study showed that well-water doesn’t cause PSP.
The only thing we found that might increase the risk for PSP development is a lesser educational attainment. This brings us back to secondary factors such as occupation. For example, if you were more exposed as an industrial worker to environmental toxins, that gives us a hint for something to follow.
There is a cluster of PSP in northern France where there is a huge increase in PSP incidence. This used to be a heavily-industrialized area. There were no environmental laws. This is a poor area. Food was grown in people’s back yards.
[Robin’s note: We heard about the cluster in northern France at the 2015 research symposium. I had expected we would hear more about this in 2016 but there was no mention of it. I did hear that the research has been discontinued. A rumor was going around the conference that perhaps the French government didn’t want research into environmental causes of PSP.]
There is a cluster on the island of Guadeloupe. Two fruits (sweet sop, sour sop) associated with the development of PSP. There is a natural decline in the incidence of PSP. We aren’t sure what was in the fruit that caused PSP.
Eat healthy. Stay healthy. Be active. This is good for the brain.
22:12 How do we make sure all neurology fellow receive PSP training?
We recently emailed 14K neurologists across the US to make them aware of PSP and how to diagnose PSP. We host webinars. We are members of the Movement Disorders Society. We have brochures for healthcare professionals. Please spread the word to your healthcare professionals, such as PTs.
20:10 What are the very beginning symptoms?
Every PSP case is different. Many cases start with balance issues. Backwards falls. Most PSP patients are misdiagnosed with Parkinson’s. Many of the symptoms mimic the symptoms of PD. Be sure to tell your neurologist if your falls are backwards.
Early signs are personality changes. Not just a movement disorder. Changes in reasoning. Can be aggressiveness, irritability, and character changes.
Loss of interest in ordinarily-pleasurable activities is a sign of PSP. This is different from Parkinson’s.
Less common is gaze palsy (up and down) at the beginning. Left to right eye sight usually isn’t a problem.
Slurred speech can a problem at the beginning but doesn’t have to be.
CBD is more unilateral. CBD symptoms are more mild at the beginning.
17:09 How common is PSP?
In the US, a “rare” disease if you have fewer than 200K patients in the US. In the US, there are about 20K patients with PSP. There are 5 million AD patients and 1 million PD patients in the US. 5-6 per 100K prevalence for PSP. 20K patients is still quite a lot.
In 1983, Orphan Drug Act was passed by Congress. Being part of an orphan disease helps PSP research, drug development, and search for a cure. Pharma needs a market. Because of this act, there are tax incentives for pharmaceutical companies. The procedures of clinical trials are the same. However, the requirements in terms of statistical power are much less. Instead of 1K for an Alzheimer’s clinical trial, we only need 100-300 patients in PSP. Reporting requirements are less frequent. And outcomes and endpoints are closer, or shorter after starting the treatment. This means the cost for clinical trials are much lower in PSP.
Why is that interesting for a pharma company? These diseases share protein misfolding. PSP is at the center of prime of life diseases. If we have a cure for PSP, maybe we have an idea for solving a disease for 5 million Alzheimer’s patients. That’s a fantastic idea.
13:21 What can we do to help you cure PSP and CBD?
It’s a long list because there’s a lot you can do.
Raise awareness. Please make others aware of what you are suffering from. Explain what you have. Even to your dentist. This is important. CurePSP will keep emailing healthcare professionals.
Subscribe to the CurePSP newsletter. Share the newsletter.
Donate to CurePSP or host fundraisers (bake sales, wine tasting, walks). Nine employees – 7 in NYC.
Register with registry.
Participate in brain donation. Researchers need human tissue to test therapies. After a long period of suffering, it would be wonderful if you and your loved ones would agree on brain donation. It’s not for everyone. We respect that. Brain donation is a wonderful thing to do if you’d like to dedicate your brain to research. Twelve years ago, started a partnership with the Mayo Clinic brain bank. 140 brains a year. 1000s of brains with PSP and related disorders. Thousands and thousands of researchers. Helps the genetics program to have human tissue.
[Robin’s note: Brain Support Network, brainsupportnetwork.org, can help your family make arrangements for brain donation! We prefer to make arrangements in advance – and your family prefers this too! But we can even help you at the last minute.]
[Robin’s note: Mayo accepts on average 80 PSP, CBD, and MSA brains per year so I’m not sure where 140 comes from. In 2015, they accepted 100 PSP, CBD, and MSA brains. That’s per the Mayo Clinic presentation at the 2016 research symposium. I don’t think they’ve ever hit 140 brains in a year with those three diagnoses.]
8:30 Is there a registry?
Soon. We will be joining the FTD Disorders Registry.
FTD = frontotemporal dementias. Umbrella term. Includes FTD as a disease, PSP, CBD, and other diseases. We’ve joined this registry. It was started by the Bluefield Project and the AFTD. Supported by the Tau Consortium. Registry will help clinical researchers find patients. This will let us conduct natural history studies. This will help us connect patients and science.
[Robin’s note: The AFTD uses the term FTD to mean “frontotemporal degeneration,” which includes PSP and CBD. The FTD Disorders Registry has a website – ftdregistry.org – which is marked as “coming soon.” I heard a talk in May on the registry where the coordinator said it would be launching in July. Then I heard a talk in October where the coordinator said it would be launching in November/December. So I’m hoping for early 2017! Those with PSP and CBD and family members are invited to participate. Even family members whose loved ones have passed away will be invited to participate.]
6:51 Should I stretch and exercise every day?
Yes, stay as active as you can.
Gait and balance are big problems. Train how to use a walker. Consider putting a sandbag at the front of your walker.
Email us at [email protected]. Whatever you do should be in collaboration with your neurologist or physical therapist. You need a treatment plan monitored by a healthcare professional.
Call us for help finding a local neurologist. On our website is the MDS (movement disorder specialist) finder with the help of our friends from the Movement Disorder Society.
[Robin’s note: I have searched and searched and don’t see this “finder” on their website. I think most local support group leaders keep lists of movement disorder specialists or dementia specialists they would consider as experts on PSP or CBD. The local American Parkinson Disease Association Information and Referral Center, apdaparkinson.org, can be a good source of referrals as well.]
Caregivers must embrace the disease. A hazard at home is falling because up-and-down gaze is impaired. Remove small (low) furniture in a room. Install handrails.
3:15 What is CurePSP doing to advocate for caregivers?
It takes a strong caregiver to provide good care. Caregivers must look after themselves.
CurePSP Care partner retreats – two next year, 4/29, in Atlanta and Portland. Personal matters of caregivers such as nutrition, meditation, mindfulness, and stress management. Not so much about PSP.
Two family conferences (caregivers and patients) next year – 3/18 in Phoenix and 6/24 in Chicago. About research, medical trials, therapy management, family and legal matters, support groups, and special topics (art therapy, hospice care). Check out Events calendar at curepsp.org.
There is a lot of hope in research. Hopefully we can help you and cure you soon!