On Sunday (June 29) Adele Abramowitz and I will join the Parent Project Australia chat which starts at 4pm AEST (NSW, Victoria, Qld, Tas & ACT) or 2am Eastern Standard Time in the United States. We will discuss "Cost of Care" and making a case for government funding of duchenne dystrophy treatment so all children with duchenne will be eligable to received government support when a treatment is available.
I am very excited to be a part of this very important discussion!
Instructions for New Chatters
For those who haven't tried the Parent Project Australia Conference Room before, you will need to download and install this conference room application to your desktop. Or you can download skypecast, which works well. After that, each time you want to visit the conference room, you have only to click on the red conference room icon on your desktop - you don't even have to open your web browser. Once there, please login with your name and your location - you do not need a password. You will need a headset microphone to chat. Webcams also work.
Interested In receiving a FREE copy? Email Tina Duong at tduong@cnmcresearch.org
June 27, 2008
June 24, 2008
TWO NEW SITES LISTED
Hello - just a quick note about two new (for genmedlabmom) sites listed under "Muscular Dystrophy Links (right column and down a bit):
I've looked at the sites, and, although I can't read Spanish, it looks intriguing. UPA! was started in collaboration with CureDuchenne and is a network of Latin American organizations from Latin American, Spain, and Portugal, dedicated to fighting for children with this disease.
Duchenne Ireland is a basic reporting site. It lists fundraisers and awareness information.
Also on Monday, I attended the Muscular Dystrophy Coordinating Committee. Parents, one mother and dad with a child with SMA and Brian Denger with two boys with duchenne. reported on cost of care (see previous post: "Cost of Care: $2.4 M in 3 years". Brian's boys are in their teens.
NIH, DoD, and Foundations reported as well. I'll be back in a day or two, finishing up the Wellstone and coverage of the committee meeting.
I've looked at the sites, and, although I can't read Spanish, it looks intriguing. UPA! was started in collaboration with CureDuchenne and is a network of Latin American organizations from Latin American, Spain, and Portugal, dedicated to fighting for children with this disease.
Duchenne Ireland is a basic reporting site. It lists fundraisers and awareness information.
Also on Monday, I attended the Muscular Dystrophy Coordinating Committee. Parents, one mother and dad with a child with SMA and Brian Denger with two boys with duchenne. reported on cost of care (see previous post: "Cost of Care: $2.4 M in 3 years". Brian's boys are in their teens.
NIH, DoD, and Foundations reported as well. I'll be back in a day or two, finishing up the Wellstone and coverage of the committee meeting.
June 18, 2008
COST OF CARE: $2.4M IN THREE YEARS
During the last three years, my family and the taxpayers of the United States have spent $2.4M on care for my son, Peter. That’s not counting the non-quantifiable things, or what Fred Gaily, erstwhile Santa Saver in Miracle on 34th Street called “those lovely intangibles”.
When Pat Furlong asked me to look into the ‘Cost of Care’ for my son, I agreed right away. (Peter, or Petey, as you may know, is 25 years old, has duchenne and is on a trach.).
On June 23rd, Brian Denger, a dad of two teenagers with duchenne (and a member of several newsgroups I subscribe to) will present his "Perspectives on Living with Muscular Dystrophy to the Muscular Dystrophy Coordinating Committee here in Washington DC. Cost of care and my figures will be part of that presentation.
This research is not just a curiosity. We want to convince the powers that be, that the cost of care for duchenne boys more than offsets the cost of a treatment, however expensive.
Putting this information together was a revelation to me.
I picked July 2005 as my starting point because that’s when my insurance provider began online access to vendor claim information and also it’s when my son had his tracheostomy.
I have divided up the costs into four categories:
• Hospital costs incurred when Petey had a tracheostomy and complications due to the operation
• Cost of a new wheelchair
• Annualized costs of care such as respiratory aids, medications, and nursing care
• Non-quantifiable costs
The hospital costs are listed in toto. These are, hopefully, a one shot deal. Costs listed are the “amount requested” by the vendors and not necessarily the cost that was paid. The annualized cost of care items are based on the time period 07/01/05 – 06/30/08 – exactly 3 years.
Petey was hospitalized four or seven times between 07/05/05 and 09/14/08 – depending on whether you count individual hospitalizations or if you count the trip to Children’s Emergency Room, the transfer to Georgetown and the transfer back to Children’s (time period of 08-21-09-02-05), as one admission.
When my son decided to get the trach, it was supposed to be one short visit to the hospital and go home.
Things went wrong with his recovery. Instead of being weaned off the trach for increasing periods of time each day, he became totally trach dependent within that first hospital stay.
He developed sepsis. I have heard of several cases of sepsis in duchenne dystrophy following an operation. One trip, his third, towards the end of August was for a pneumothorax. The hospital was too full and we transferred from Children’s to Georgetown, then back to Children’s when a bed opened up.
The cost of all admissions were $448,583.81. Note: all hospital stays for trach-dependent people are to ICUs.
• 07-05 - 07-18-05 hospital admission $166,950.44
• 07-21 - 07-25-05 hospital admission $49,603.70
• 07-21 - 08-22-05 emergency room $7,668.00
• 08-22 - 08-26-05 hospital admission $29,259.18
• 08-26 - 09-02-05 hospital admission $76,919.05
• 09-03 - 09-10-05 hospital admission $102,529.04
• 09-13 - 09-14-05 hospital admission $15,654.40
• $48,819.41 purchased on 11/30/06
Many of the annualized expenses listed here are associated particularly with older men with duchenne as opposed to youngsters and teenagers.
• Pulmonary supplies/respirator/therapist $62.610.36
• Wheelchair repair $1,710.88
• Prescriptions $21,207.24
• Nursing costs (Some paid by us, some
by Medicaid) $256,412.67
• Dr. Appointment/x-ray/blood test $9,080.50
• Social Security benefits (Petey) $4,624.67
• Bed Rental $16,682.00
There are some sacrifices that are unquantifiable. They consist of missed opportunities, grieving,‘what could have beens’.
How can I put a price tag on the attention that Mary, Nicole, and Lindsay, my girls, never got?
When Petey got his trach, it was a literal symbol for me that he had he crossed a line I had vowed he ‘d never cross. This was it, there were no more lines to cross.
I should say that he was fine with it – well after he got healthy again. I was a basket case. In the middle of one of his hospitalizations something broke inside of me and the grief came in torrents. I have yet to fully recover.
How do I assign a cost to that?
There are other, less dramatic things.
My mother died of a heart attack when she was 56, the same age I am now. Was she a carrier?. Am I? Will it happen to me? Do I even want to know?
My husband, Peter and I have a life with Petey or we have lives separate from each other. They are mutually exclusive. What is the price we pay for not having vacations with each other? For not having a private life? For not building our lives toward retirement, either financially or emotionally or mentally?
As far as privacy is concerned, I can either have nurses sitting in my living room 16 hours a day and help with my son or I can have privacy and no help.
What would have happened if Petey didn’t have duchenne?
I would probably not call him Petey, for one thing.
He would have finished college and started a career. He would have his own place. He’d go to concerts and on road trips with his friends. He’d have a separate life from his parents. How do you measure that?
And what about me?
I would have finished college – none of this struggling with one class at a time. I would have a career more suitable to my nature than administrative work. I’d make more money. I could relocate if I wanted to. I would have more energy, more creativity, more time for my husband and myself. I'd be less ditsy, more healthy.
I would not be in therapy, would not need a special van with a lift. I’d be writing that book that’s stuck in my head. I would sleep easier. I wouldn’t be in debt wondering if my boss is really moving to Nebraska or if I will be able to get a job.
It’s obvious: the cost of care for duchenne boys more than offsets the cost of a treatment.
The final installment of the Wellstone Centers annual meeting will be posted later this week.
When Pat Furlong asked me to look into the ‘Cost of Care’ for my son, I agreed right away. (Peter, or Petey, as you may know, is 25 years old, has duchenne and is on a trach.).
On June 23rd, Brian Denger, a dad of two teenagers with duchenne (and a member of several newsgroups I subscribe to) will present his "Perspectives on Living with Muscular Dystrophy to the Muscular Dystrophy Coordinating Committee here in Washington DC. Cost of care and my figures will be part of that presentation.
This research is not just a curiosity. We want to convince the powers that be, that the cost of care for duchenne boys more than offsets the cost of a treatment, however expensive.
Putting this information together was a revelation to me.
BACKGROUND
I picked July 2005 as my starting point because that’s when my insurance provider began online access to vendor claim information and also it’s when my son had his tracheostomy.
I have divided up the costs into four categories:
• Hospital costs incurred when Petey had a tracheostomy and complications due to the operation
• Cost of a new wheelchair
• Annualized costs of care such as respiratory aids, medications, and nursing care
• Non-quantifiable costs
The hospital costs are listed in toto. These are, hopefully, a one shot deal. Costs listed are the “amount requested” by the vendors and not necessarily the cost that was paid. The annualized cost of care items are based on the time period 07/01/05 – 06/30/08 – exactly 3 years.
HOSPITAL COSTS
Petey was hospitalized four or seven times between 07/05/05 and 09/14/08 – depending on whether you count individual hospitalizations or if you count the trip to Children’s Emergency Room, the transfer to Georgetown and the transfer back to Children’s (time period of 08-21-09-02-05), as one admission.
When my son decided to get the trach, it was supposed to be one short visit to the hospital and go home.
Things went wrong with his recovery. Instead of being weaned off the trach for increasing periods of time each day, he became totally trach dependent within that first hospital stay.
He developed sepsis. I have heard of several cases of sepsis in duchenne dystrophy following an operation. One trip, his third, towards the end of August was for a pneumothorax. The hospital was too full and we transferred from Children’s to Georgetown, then back to Children’s when a bed opened up.
The cost of all admissions were $448,583.81. Note: all hospital stays for trach-dependent people are to ICUs.
• 07-05 - 07-18-05 hospital admission $166,950.44
• 07-21 - 07-25-05 hospital admission $49,603.70
• 07-21 - 08-22-05 emergency room $7,668.00
• 08-22 - 08-26-05 hospital admission $29,259.18
• 08-26 - 09-02-05 hospital admission $76,919.05
• 09-03 - 09-10-05 hospital admission $102,529.04
• 09-13 - 09-14-05 hospital admission $15,654.40
COST OF A NEW WHEELCHAIR (EVERY 5 YEARS)
• $48,819.41 purchased on 11/30/06
AVERAGE YEARLY EXPENSES
Many of the annualized expenses listed here are associated particularly with older men with duchenne as opposed to youngsters and teenagers.
• Pulmonary supplies/respirator/therapist $62.610.36
• Wheelchair repair $1,710.88
• Prescriptions $21,207.24
• Nursing costs (Some paid by us, some
by Medicaid) $256,412.67
• Dr. Appointment/x-ray/blood test $9,080.50
• Social Security benefits (Petey) $4,624.67
• Bed Rental $16,682.00
NON-QUANTIFIABLE COSTS (The Lovely Intangibles)
There are some sacrifices that are unquantifiable. They consist of missed opportunities, grieving,‘what could have beens’.
How can I put a price tag on the attention that Mary, Nicole, and Lindsay, my girls, never got?
When Petey got his trach, it was a literal symbol for me that he had he crossed a line I had vowed he ‘d never cross. This was it, there were no more lines to cross.
I should say that he was fine with it – well after he got healthy again. I was a basket case. In the middle of one of his hospitalizations something broke inside of me and the grief came in torrents. I have yet to fully recover.
How do I assign a cost to that?
There are other, less dramatic things.
My mother died of a heart attack when she was 56, the same age I am now. Was she a carrier?. Am I? Will it happen to me? Do I even want to know?
My husband, Peter and I have a life with Petey or we have lives separate from each other. They are mutually exclusive. What is the price we pay for not having vacations with each other? For not having a private life? For not building our lives toward retirement, either financially or emotionally or mentally?
As far as privacy is concerned, I can either have nurses sitting in my living room 16 hours a day and help with my son or I can have privacy and no help.
What would have happened if Petey didn’t have duchenne?
I would probably not call him Petey, for one thing.
He would have finished college and started a career. He would have his own place. He’d go to concerts and on road trips with his friends. He’d have a separate life from his parents. How do you measure that?
And what about me?
I would have finished college – none of this struggling with one class at a time. I would have a career more suitable to my nature than administrative work. I’d make more money. I could relocate if I wanted to. I would have more energy, more creativity, more time for my husband and myself. I'd be less ditsy, more healthy.
I would not be in therapy, would not need a special van with a lift. I’d be writing that book that’s stuck in my head. I would sleep easier. I wouldn’t be in debt wondering if my boss is really moving to Nebraska or if I will be able to get a job.
It’s obvious: the cost of care for duchenne boys more than offsets the cost of a treatment.
The final installment of the Wellstone Centers annual meeting will be posted later this week.
June 13, 2008
PART 3: THE WELLSTONE CENTERS FOR MUSCULAR DYSTROPHY REPORT ON THEIR PROGRESS
After Glen Nuckolls and John Porter opened with the NIH perspective, (see Part 2), the Wellstone Centers’ Investigators reported on their research.
Dr. Richard Moxley and the University of Rochester Wellstone Center hosted the conference and they were up first.
Rochester has been testing IPLEX as a potential treatment for myotonic dystrophy (DM). IPLEX is an insulin-like growth factor (IGF)-1 with recombinant IGF binding protein-3. These researchers believe in DM, IGF isn’t doing its job correctly and that makes muscles small and weak. Researchers at Rochester are trying to prove that increased amounts of IGF-1 in the blood will correct this. So far, IPLEX has proved safe and tolerable. With money from the NIH, the pharmaceutical industry and patient advocacy groups, they are continuing with Phase 2 clinical trials to see if IPLEX is effective.
Investigators also presented a study showing correction of muscle chloride channel activity in mice models of DM using morphlinos. In DM, muscles contract repeatedly, are stiff and have a hard time relaxing. By repressing exon 7A with morpholinos, they were able to fix a gene splice site defect and thereby increase the quantity of the protein responsible for chloride channel activity. This fixed the myotonic quality of the muscle.
UNIVERSITY OF WASHINGTON WELLSTONE CENTER
Jeff Chamberlain, lead scientist from the University of Washington in Seattle, Washington, reported on his work with microdystrophin genes as a therapy for duchenne dystrophy.
Although dystrophin is the largest gene known to man, a full 79 exons long, not all exons are necessary to have a functional dystrophin protein. Dr. Chamberlain gave the example of a 75 year old man, still walking, with Beckers dystrophy who has a deletion in exons 17 – 48.
Chamberlain and his team just published a paper (Human Molecular Genetics, 29 May 2008) showing that myoblasts could be generated using an engineered fibroblast.
Muscles lose the ability to regenerate In duchenne dystrophy. In one project, mdx mice fibroblasts were transduced with a lentiviral vector expressing a microdystrophin gene paired with a muscle growth regulator. The muscle growth regulator, MyoD, was activated by a drug, Tamoxifen, to regenerate myofibers expressing the microdystrophin gene. The transduced fibroblasts were transplanted into mdx mice muscles, which expressed microdystrophin.
Chamberlain also reported that human microdystrophin genes in dogs with duchenne caused an immune response, while canine microdystrophin genes did not.
He cautions that every muscle is a unique organ with dfferent levels of gene expression and a viable therapy for muscular dystrophy must take this into account.
UNIVERSITY OF PITTSBURGH WELLSTONE CENTER
Joseph Glorioso’s Wellstone Center at the University of Pittsburg is working on everything from developing clinical outcomes (Jerry Mendell, MD) to gene therapy in large animals (Xiao Xiao and Kornegay) to stem cell based therapy for cardiomyopathy.
CHILDREN’S NATIONAL MEDICAL CENTER WELLSTONE CENTER
Then Eric Hoffman, Robert Leshner, and Terry Partridge represented my Center, GenMed at Children’s National Medical Center. We are gearing up for exon-skipping clinical trials. This project will be funded by a public/private partnership consisting of the Department of Defense, the Foundation to Eradicate Duchenne and Cure Duchenne.
Qi Long Lu in North Carolina is conducting a pre-clinical study in multi-exon skipping using Peptide-conjugated phosphorodiamidate morpholino oligomers (PPMOs).
We are collaborating with the Japanese: Toshifumi Yokota from our lab is studying multiple exon-skipping in their beagles with duchenne. His work includes skipping 10 exons. Theroetically, skipping exons 45 to 55 results in a mild form of Becker’s duchenne.
Barriers to overcome:
UNIVERSITY OF IOWA WELLSTONE CENTER
The range and complexity of congenital muscular dystrophies spans everything from mild to severe. (See Congenital and Limb-Girdle Muscular Dystrophies, in the Archieves of Neurology, by Janbernd Kirschner, MD; Carsten G. Bönnemann, MD).
Kevin Campbell and the University of Iowa Wellstone Center’s work includes therapeutics to improve muscle cell membrane maintenance and repair in dysferlinopathies The range of dysferlinopathies goes from myoshi distal myopathy (weakness that starts in the limbs) to limb girdle muscular dystrophy type 2b (weakness that starts in the pelvis and shoulders).
This Center is working on many things including understanding the disease pathway and treatment strategies for LGMD and FKRP and developing a mouse model to use for future studies.
The University of Iowa Wellstone Center is hosting a Congenital Muscular Dystrophy (CMD) workshop in July 2008.
UNIVERSITY OF PENNSYLVANIA AND JOHNS HOPKINS UNIVERSITY WELLSTONE CENTER
UPENN and Johns Hopkins, led by Lee Sweeney and Kathy Wagner, have completed a clinical I/II trials in MYO-29, a myostatin inhibitor. Myostatin stops muscle growth. They are evaluating the data and results will be forthcoming.
This Center is studying protease inhibition as a possible therapy for muscular dystrophy. Protease Inhibitors slow muscle breakdown in muscular dystrophy.
Another project is the study of Bowmann-Birk Inhibitor Complex (BBIC), which is made from soy. In this study, Investigators are trying to determine what it is that makes it work.
They are looking at MRI as a noninvasive assay to determine if therapies work.
Finally, the UPENN/Hopkins team is assessing PTC 124, a promising treatment for duchenne muscular dystrophy caused by point mutations.
PART 4: Patients, Families, and Advocacy Groups – Leading the Way
Dr. Richard Moxley and the University of Rochester Wellstone Center hosted the conference and they were up first.Rochester has been testing IPLEX as a potential treatment for myotonic dystrophy (DM). IPLEX is an insulin-like growth factor (IGF)-1 with recombinant IGF binding protein-3. These researchers believe in DM, IGF isn’t doing its job correctly and that makes muscles small and weak. Researchers at Rochester are trying to prove that increased amounts of IGF-1 in the blood will correct this. So far, IPLEX has proved safe and tolerable. With money from the NIH, the pharmaceutical industry and patient advocacy groups, they are continuing with Phase 2 clinical trials to see if IPLEX is effective.
Investigators also presented a study showing correction of muscle chloride channel activity in mice models of DM using morphlinos. In DM, muscles contract repeatedly, are stiff and have a hard time relaxing. By repressing exon 7A with morpholinos, they were able to fix a gene splice site defect and thereby increase the quantity of the protein responsible for chloride channel activity. This fixed the myotonic quality of the muscle.
UNIVERSITY OF WASHINGTON WELLSTONE CENTER
Jeff Chamberlain, lead scientist from the University of Washington in Seattle, Washington, reported on his work with microdystrophin genes as a therapy for duchenne dystrophy.Although dystrophin is the largest gene known to man, a full 79 exons long, not all exons are necessary to have a functional dystrophin protein. Dr. Chamberlain gave the example of a 75 year old man, still walking, with Beckers dystrophy who has a deletion in exons 17 – 48.
Chamberlain and his team just published a paper (Human Molecular Genetics, 29 May 2008) showing that myoblasts could be generated using an engineered fibroblast.
Muscles lose the ability to regenerate In duchenne dystrophy. In one project, mdx mice fibroblasts were transduced with a lentiviral vector expressing a microdystrophin gene paired with a muscle growth regulator. The muscle growth regulator, MyoD, was activated by a drug, Tamoxifen, to regenerate myofibers expressing the microdystrophin gene. The transduced fibroblasts were transplanted into mdx mice muscles, which expressed microdystrophin.
Chamberlain also reported that human microdystrophin genes in dogs with duchenne caused an immune response, while canine microdystrophin genes did not.
He cautions that every muscle is a unique organ with dfferent levels of gene expression and a viable therapy for muscular dystrophy must take this into account.
UNIVERSITY OF PITTSBURGH WELLSTONE CENTER
Joseph Glorioso’s Wellstone Center at the University of Pittsburg is working on everything from developing clinical outcomes (Jerry Mendell, MD) to gene therapy in large animals (Xiao Xiao and Kornegay) to stem cell based therapy for cardiomyopathy.CHILDREN’S NATIONAL MEDICAL CENTER WELLSTONE CENTER
Then Eric Hoffman, Robert Leshner, and Terry Partridge represented my Center, GenMed at Children’s National Medical Center. We are gearing up for exon-skipping clinical trials. This project will be funded by a public/private partnership consisting of the Department of Defense, the Foundation to Eradicate Duchenne and Cure Duchenne.Qi Long Lu in North Carolina is conducting a pre-clinical study in multi-exon skipping using Peptide-conjugated phosphorodiamidate morpholino oligomers (PPMOs).
We are collaborating with the Japanese: Toshifumi Yokota from our lab is studying multiple exon-skipping in their beagles with duchenne. His work includes skipping 10 exons. Theroetically, skipping exons 45 to 55 results in a mild form of Becker’s duchenne.
Barriers to overcome:
- Production (very expensive and being addressed via the DoD through congressional line items.
- Treatment of the heart in duchenne has met with limited success since morpholino’s do not get into the heart. PPMOs do and we are working to make sure there are no toxic effects.
- FDA regulatory issues that need to be addressed.
UNIVERSITY OF IOWA WELLSTONE CENTER
The range and complexity of congenital muscular dystrophies spans everything from mild to severe. (See Congenital and Limb-Girdle Muscular Dystrophies, in the Archieves of Neurology, by Janbernd Kirschner, MD; Carsten G. Bönnemann, MD).Kevin Campbell and the University of Iowa Wellstone Center’s work includes therapeutics to improve muscle cell membrane maintenance and repair in dysferlinopathies The range of dysferlinopathies goes from myoshi distal myopathy (weakness that starts in the limbs) to limb girdle muscular dystrophy type 2b (weakness that starts in the pelvis and shoulders).
This Center is working on many things including understanding the disease pathway and treatment strategies for LGMD and FKRP and developing a mouse model to use for future studies.
The University of Iowa Wellstone Center is hosting a Congenital Muscular Dystrophy (CMD) workshop in July 2008.
UNIVERSITY OF PENNSYLVANIA AND JOHNS HOPKINS UNIVERSITY WELLSTONE CENTER
UPENN and Johns Hopkins, led by Lee Sweeney and Kathy Wagner, have completed a clinical I/II trials in MYO-29, a myostatin inhibitor. Myostatin stops muscle growth. They are evaluating the data and results will be forthcoming.This Center is studying protease inhibition as a possible therapy for muscular dystrophy. Protease Inhibitors slow muscle breakdown in muscular dystrophy.
Another project is the study of Bowmann-Birk Inhibitor Complex (BBIC), which is made from soy. In this study, Investigators are trying to determine what it is that makes it work.
They are looking at MRI as a noninvasive assay to determine if therapies work.
Finally, the UPENN/Hopkins team is assessing PTC 124, a promising treatment for duchenne muscular dystrophy caused by point mutations.
PART 4: Patients, Families, and Advocacy Groups – Leading the Way
June 9, 2008
Part 2: WHAT'S GOING ON IN MUSCULAR DYSTROPHY RESEARCH?
WHAT NIH HAD TO SAY
I was excited by the tone set by NIH sponsors, John Porter and Glen Nuckolls. I have been to a number of meetings with many of these same folks and I have never heard the question researchers were asked that day: What is a realistic time frame and the likelihood of success for translating research into treatments? It was rhetorical - a question waiting for an answer.
TRANSLATING RESEARCH INTO TREATMENTS
The model of therapeutic success for clinical trials networking is Treat-NMD. Not only should we duplicate their efforts and come together as a community of basic, translational and clinical researchers and patients and their families working together but we should also work with Treat-NMD as part of a larger network. To that end, there will be a joint Treat-NMD/NIH International Conference on Translational Research in Neuromuscular Disorders in Brussels in November 2009. Hopefully by then the relationship with TreatNMD and the clinical trials networks in the Americas will be solidified.
One of the weakest links in translating research into treatments is the FDA's Investigational New Drug application process. Unfortunately, there have not been many Investigational New Drug applications for neuromuscular diseases. We need to reverse that trend. We families and people with muscular dystrophy are best qualified to make an impact but - I'm getting ahead of myself.
The Plan – or what you need to launch a successful program
You start with an unmet medical need. I can't think of a more worthy need than duchenne dystrophy.
THE CRITICAL STAGES OF PROGRAM DESIGN AND DECISION MAKING
In the critical stages of program design and decision making there are certain points to consider:
I was excited by the tone set by NIH sponsors, John Porter and Glen Nuckolls. I have been to a number of meetings with many of these same folks and I have never heard the question researchers were asked that day: What is a realistic time frame and the likelihood of success for translating research into treatments? It was rhetorical - a question waiting for an answer.
TRANSLATING RESEARCH INTO TREATMENTS
The model of therapeutic success for clinical trials networking is Treat-NMD. Not only should we duplicate their efforts and come together as a community of basic, translational and clinical researchers and patients and their families working together but we should also work with Treat-NMD as part of a larger network. To that end, there will be a joint Treat-NMD/NIH International Conference on Translational Research in Neuromuscular Disorders in Brussels in November 2009. Hopefully by then the relationship with TreatNMD and the clinical trials networks in the Americas will be solidified.
One of the weakest links in translating research into treatments is the FDA's Investigational New Drug application process. Unfortunately, there have not been many Investigational New Drug applications for neuromuscular diseases. We need to reverse that trend. We families and people with muscular dystrophy are best qualified to make an impact but - I'm getting ahead of myself.
The Plan – or what you need to launch a successful program
You start with an unmet medical need. I can't think of a more worthy need than duchenne dystrophy.
- A known, druggable target – Science has mapped 10,000 biological pathways. In boys with duchenne, they know much of what goes wrong with the most affected pathways. What do we need to prevent or reverse those problems?
- Drug companies that will invest in a treatment.
- A path that maps to regulatory approval – what do we need to do to convince the FDA that we have a worthy target for study? Do we have the natural history studies that show the progression of the disease so that the difference a treatment makes will be discernable? Do we have registries of children who need a treatment
- Controll of intellectual property as an incentive for drug companies to invest in a treatment.
- A drug that will be commercially viable for Pharmaceutical companies – Can they make money off of treating duchenne?
THE CRITICAL STAGES OF PROGRAM DESIGN AND DECISION MAKING
In the critical stages of program design and decision making there are certain points to consider:
- Is there early involvement of all participants in the trial? After all, that is the best way to make sure everything is covered.
- Is the expertise necessary to bring a treatment to fruition in place? Is there sufficient objectivity among the partners to deal realistically with problems encountered along the way? Do all team members; stakeholders, granting institutions, patient communities, and the medical doctors and scientists have a full buy-in?
- Is there a candidate therapeutic profile?
- Are there reliable and acceptable assays to test if the drug is working?
- What are the go-no-go milestones
- Is there a plan, after phase one and two for hand-off to pharmaceutical companies?
- Do we have a good animal model of the disease?
- Will we be able to go to clinical trials with mdx data? Do we need md dogs? Any other pre-clinical model? Can we prove to the FDA that these animal models are sufficient?
- Do we have a solid proof of concept and good toxicology data?
WHAT'S GOING ON IN MUSCULAR DYSTROPHY RESEARCH?
This is part one in a multi-part series about the Wellstone Centers for Muscular Dystrophy Research: where research is going and what can I do?
In many ways, I have lived on the periphery of the duchenne parent movement for a number of years. When my son, now twenty-five, went into a wheelchair for good, I grieved for the life he would never have but in the secret chamber of my heart, I held onto the hope that something would make this nightmare go away.
Now I see there will be a treatment and what I hope for exists in the foreseeable future. I am holding onto the hope that somehow, although I don’t know how, it will be able to help Petey.
In the last year or so I’ve felt called to do something more, to jump in, and among other things, I started this blog.
One of the things I did was go to the Wellstone Centers Annual Meeting in Rochester, NY in May, to find out what the Centers were doing and to network with involved parents and government representatives who were funding the research being done at the Centers.
The first thing that impressed me about the University of Rochester, aside from the lovely weather, is how the families and stakeholders were welcomed and our opinions courted. We were seen as partners in the drive to treat muscular dystrophy.
PATENTS NOT PAPERS – COLLABORATION WITH STAKEHOLDERS
Two legitimate treatment possibilities for duchenne dystrophy are the exon-skipping and PTC-124, now undergoing clinical trials.
John Porter, NINDS, and Glen Nuckolls, NIAMS, made clear that NIH’s goal is to fund grants that lead to patents, not papers. NIH is also investing 2.5% of muscular dystrophy research funding for small business, to promote research that leads to patentable discoveries. Stakeholder groups will be included in planning and meetings to promote coordination and collaboration (continued tomorrow.)
In many ways, I have lived on the periphery of the duchenne parent movement for a number of years. When my son, now twenty-five, went into a wheelchair for good, I grieved for the life he would never have but in the secret chamber of my heart, I held onto the hope that something would make this nightmare go away.
Now I see there will be a treatment and what I hope for exists in the foreseeable future. I am holding onto the hope that somehow, although I don’t know how, it will be able to help Petey.
In the last year or so I’ve felt called to do something more, to jump in, and among other things, I started this blog.
One of the things I did was go to the Wellstone Centers Annual Meeting in Rochester, NY in May, to find out what the Centers were doing and to network with involved parents and government representatives who were funding the research being done at the Centers.
The first thing that impressed me about the University of Rochester, aside from the lovely weather, is how the families and stakeholders were welcomed and our opinions courted. We were seen as partners in the drive to treat muscular dystrophy.
PATENTS NOT PAPERS – COLLABORATION WITH STAKEHOLDERS
Two legitimate treatment possibilities for duchenne dystrophy are the exon-skipping and PTC-124, now undergoing clinical trials.
John Porter, NINDS, and Glen Nuckolls, NIAMS, made clear that NIH’s goal is to fund grants that lead to patents, not papers. NIH is also investing 2.5% of muscular dystrophy research funding for small business, to promote research that leads to patentable discoveries. Stakeholder groups will be included in planning and meetings to promote coordination and collaboration (continued tomorrow.)
June 4, 2008
MARK YOUR CALENDARS! NOVEMBER 17, 2008: Washington DC Career Expo for People with Disabilities
MESSAGE TO ALL JOB SEEKERS WITH DISABILITIES
Thanks to Eugene Askew for sending this information my way!
TIME TO PRE-REGISTER FOR THE UPCOMING WASHINGTON, D.C. CAREER EXPO FOR PEOPLE WITH DISABILITIES. DO IT TODAY!!
MONDAY, NOVEMBER 17TH, 10AM TO 3:00PM, AT THE RONALD REAGAN BUILDING & INTERNATIONAL TRADE CENTER, 1300 PENNSYLVANIA AVENUE, NW, WASHINGTON, D.C.
20004.
IF YOU HAVE NOT YET PRE-REGISTERED FOR THE UPCOMING WASHINGTON, D.C. CAREER EXPO FOR PEOPLE WITH DISABILITIES, HOSTED BY CAREERS & THE disABLED
MAGAZINE, PLEASE DO IT TODAY! YOUR CAREER FUTURE DEPENDS ON IT!!
IT IS VERY IMPORTANT TO PRE-REGISTER ONLINE AT:
CAREER EXPO FOR PEOPLE WITH DISABILITIES
TO GIVE YOU AN IDEA OF THE DIVERSITY OF COMPANIES PARTICIPATING ALREADY, HERE ARE A FEW OF THEM: Federal Deposit Insurance Corporation, U.S. Food & Drug Administration, NASA, Raytheon Company (Silver Sponsor), Transportation Security Administration, and the U.S. Secret Service.
BY PRE-REGISTERING AND ATTACHING YOUR RESUME TO YOUR PRE-REGISTRATION FORM, YOU WILL NOT ONLY INSURE THAT YOUR RESUME APPEARS ON A RESUME DISK GIVEN TO ALL RECRUITERS AT THE CAREER EXPO, BUT THAT YOU WILL BE ABLE TO ENTER THE
CAREER EXPO FASTER THAN THOSE WHO DO NOT REGISTER ONLINE.
PRE-REGISTER TODAY AND DON'T FORGET TO ATTACH YOUR RESUME!
John Miller
Publisher, CAREERS & the disABLED Magazine
JMILLER@EOP.COM
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