callsummary

AMDA Pompe’s Disease Conference Call Summaries

Session #1
September 30, 2003
Topic - FDA Regulatory Process
Presented By: Brad Glasscock, FDA

The session’s guest speaker was Brad Glasscock from the Orphan Products Group at the Food and Drug Administration (FDA). Brad provided a general overview of the FDA regulatory process. He emphasized that the process may differ from product to product because of issues that arise in the drug development process but there is a general development plan that he described in detail.

The FDA’s regulatory review period consists of two periods of time: a testing phase and an approval phase. The testing phase begins when the investigational new drug (IND) application for the drug becomes effective and extends until a license application (BLA, PLA, NDA depending on the treatment) is submitted. [note - I believe enzyme replacement therapies require a BLA, a biologic license application] The approval phase starts with the initial submission of the BLA and ends when the BLA is approved.

Phase I - Initially a sponsor for a new drug or therapy approaches the FDA for a pre-IND meeting. Typically they have some preliminary data from tests they have already completed and an outline for a clinical development plan. The FDA will provide feedback at the meeting and the principal focus at this point is on safety. The sponsor may then alter its protocol and officially submit an IND. The IND must be submitted before the drug can be administered to humans. The FDA has a 30-day review period, after which if the FDA has not acted the sponsor can begin enrolling participants in new studies. During the FDA’s review period they principally will be looking at safety concerns and they have the ability to put the study on hold if they believe subjects may be put at risk. Phase I testing is usually single dose administration to a limited group and the drug company and the FDA are mainly focused on safety issues, as opposed to the effectiveness of the product at this stage. Phase I can take 6 months to several years to complete.

Phase II - After Phase I is complete the company and the FDA will hold a pre-Phase II meeting. This meeting is principally about product safety. The company will present the safety results from Phase I and also discuss the perceived effectiveness of the product. Manufacturing issues also may be discussed as it may be required for the company to change its manufacturing process in order to increase production of its product. The FDA may require new studies to be done to show the new manufacturing process does not raise any safety issues.

The Phase II studies are significantly larger than the Phase I studies. In Phase II the company is looking for information on the effectiveness of the product as well as its safety. Phase II studies are controlled clinical investigations and are conducted with an expanded range of subjects (several hundred). The studies compare the effects of the drug in a treatment group with the effect of a placebo or alternative therapy in a controlled group and may be blinded to minimize bias. Phase II studies are the most important of the company’s clinical plan. Phase II studies will identify the clinical end points that the company will use in determining the effectiveness of the product.

It’s possible that some companies with orphan drugs may try to merge Phase II and Phase III, however, it’s crucial that the company and the FDA be in agreement on the clinical end points to be used in determining a product’s effectiveness. Phase II can take 6 months to 2-3 years to complete.

Phase III - The next step is a Pre-Phase III meeting with the FDA. This is the key point in time in terms of determining what will be required in the study for receiving FDA approval and is the last step before submitting the application for marketing. Phase III focuses on the effect of the product on clinical end points and once the company and the FDA agree on the end points the FDA will provide the approval to enroll patients in a Phase III study.

Phase III studies tend to be fairly large. However, for other enzyme replacement therapies they have been under 100 patients. The companies are looking to control all variables and develop clean data that clearly shows product effectiveness. During Phase III the drug is studied by a larger number of investigators under conditions similar to those under which it would be used when marketed. Additional evidence of effectiveness and more information on potential adverse reactions is obtained. Phase III trials can take one to two years.

BLA - After the Phase III trial is completed a pre-BLA application meeting is held. A full range of issues are discussed including safety, effectiveness and manufacturing capability. If the FDA does not believe additional studies are necessary then the company will be given the green light to submit the BLA, although some companies will submit even if the FDA suggests additional studies be done.

The FDA reviews the study looking at quality assurance, pharmacology, safety, effectiveness and they will inspect the applicants manufacturing site. The FDA has six months to review the application. If there are deficiencies they may require additional work or studies to be conducted. The FDA uses advisory committees to obtain outside advice and opinions from expert advisors so that final agency decisions will have the benefit of wider national expert input. Committee recommendations are not binding on the FDA, but the agency considers them carefully when deciding drug issues.

When the technical reviews are completed, each reviewer develops a written evaluation that presents their conclusions and their recommendations on the application. The division director or office director then evaluates the reviews and recommendations and decides the action that its division will take on the application. The result is an action letter that provides an approval, approvable or non-approvable decision and a justification for that recommendation.

Once an approval, approvable, or non-approvable recommendation is reached by the reviewers and their supervisors, the decision must be evaluated and agreed to by the director of the applicable drug review division or office. The division director generally serves as the final FDA ruling. In this sense, the division director is said to have "sign-off" authority for such drugs. Once the division director (or office director, as appropriate) signs an approval action letter, the product can be legally marketed starting that day in the United States.

Patient Input - Several questions were asked about patients’ ability to get information during the trials and the company’s obligation to disclose information. Unfortunately, most of the discussions between the FDA and the company are confidential and the information available to the public is limited to what the company elects to disclose.

Patients do have the ability to speak at the Advisory Committee meeting. This usually is scheduled during the six month BLA review. Patients spoke at Genzyme’s Aldurazyme meeting and it was very powerful and made a big impact on the Advisory Committee.

Orphan Drug Development - Companies that receive Orphan Drug approval receive tax breaks during the clinical development stage of the drug. They also receive marketing exclusivity for seven years.

Development of a drug can be quicker under the orphan drug procedures and parts of the process can be phased. Companies can apply for the Fast Track procedure during the IND phase. Under this process, which is used fairly often, more FDA input is provided and companies can do a "rolling" submission for their BLA. Usually the FDA will not allow a company to submit their BLA until everything is complete, however, Fast Track allows applicants to submit their application in sections, as the work is completed. In addition, these applications are granted priority review and usually will be processed in six months (normal time is ten months).

One of the big problem with orphan drugs has been with enrollment. Companies may have trouble getting a sufficient amount of patients to conduct a study that produces clear and definitive results.

The FDA does not have a say as to what a company can charge for a new product once it is approved.

The AMDA would like to thank Brian White for supplying this summary, and for coordinating the conference call with Marsha Zimmerman, AMDA.

Session #2
November 13, 2003
Topic – 2003 IPA Conference

This session’s topic was an overview of the IPA Conference held in Heidelberg, Germany on October 31- November 2, 2003. Over 100 participants including patients, representatives from Genzyme and medical specialists from all over the world attended the conference. Participants on the call that attended included Marsha Zimmerman, Dan Pipe, Marylyn House and Brian White. The conference format included presentations on a variety of topics followed by a question and answer session. Participants on this call attempted to provide as factual a presentation of the information that was presented at the conference as possible.

The first evening of the conference included a presentation by Genzyme. This call principally focused on that part of the meeting. A summary of the areas discussed is provided below.

I. New Clinical Trials initiated in 2003:

1602 (started in April 2003)

Dose range study

Still only 7 out of 16 infants enrolled (up to 6 mos of age)

Data from this trial will be used to obtain FDA approval in the US

Study sites: Taiwan, Israel, UK, France, US

This is a key study since the data can show significant results

1702 (started in January 2003):

15 out of 16 infants now enrolled (6 months to 3 years)

Single dose study

Data from this trial will be used to gain approval in Europe

End Points for both trials: Survival and improvement in ventilator dependency

Past Clinical Trials Continue: Previous trials with Enzyme Replacement Therapy started in January 1999.

II. Expanded Access and Special Access programs to start in 2003:

Infantile Expanded Access Program:

The first expanded access program to be initiated.

Will include older children that had onset in infancy but who do not qualify for trials 1602 or 1702.

The expanded access program will be made available on a first come, first serve basis.

Started Oct 2003.

Data will be gathered and used towards getting FDA approval.

Late-Onset Special Access Program:

Will start as the supply of enzyme increases.

Will include the severely affected late onset patients that do not qualify for the late onset clinical trial that will start in 2004.

Patient Criteria: 24-hour ventilation and non-ambulatory patients.

III. Genzyme’s Pompe Patient Registry:

International, on-going observational database

Open to all physicians treating Pompe patients

Open to all Pompe patients as long as their physician is willing to participate

Patient and doctor confidentiality will be strictly adhered to

The registry will enhance understanding of the disease

The registry will develop patient reports to monitor treatment results

Will develop guidelines

Will evaluate long-term treatment plans

The registry will find Pompe patients thru patient associations

IRB (Institutional Review Board) approval is necessary before any physician can take part in the registry.

Significant discussion occurred about the use of the Registry, how the Registry relates to some of the other data collection sources that currently are in existence and what steps a patient needs to follow in order to participate in the Registry. It was suggested that we approach Genzyme about participating in a future telephone call concerning the operation and scope of the Registry.

IV. Late Onset Observational Study to commence in late 2003/early 2004

Will include 60 late onset patients (mild to moderately affected)

Will commence by the end of 2003/beginning of 2004

Patients to be observed at 0, 1, 3, 6, 12 months.

First part is observational study, with no enzyme used.

Data from this group will help determine the end points for the treatment study

40 patients will be selected from this group to be part of placebo controlled, dose ranging treatment study to commence in 2004. It is not clear exactly how the 40 patients will be divided up (i.e., 20 patients will receive a placebo; 20 will receive enzyme therapy??).

After six months Genzyme will analyze the initial results of the placebo trial.

This group is the toughest group since there are few published reports for the natural history of the disease for adults and the muscle problems vary among the late onset patients.

Five sites to be used – 3 in the US and 2 in Europe

V. Commercialization

Genzyme’s stated goal, which they stressed several times throughout the meeting, is to have enzyme replacement therapy available for all patients in the fastest manner possible.

Genzyme will probably file for approval in Europe first, in the fourth quarter of 2004

Data will be submitted in mid-2005 to the FDA in the US. Approval in the US will probably be in mid-2006. This should also coincide with their plans to increase manufacturing.

VI. Manufacturing Challenges:

- Dosing is still a big issue. What dose is needed to be effective?
- Not knowing dosing makes predicting future drug needs difficult.

Genzyme CHO (Chinese Hamster Ovary Cell line) developed and initiated 2001:

- Genzyme has multiple sites and production scales:

Cambridge MA: Genzyme Headquarters

Framingham has:

90 L reactor volume dedicated for making product to supply drug for patient’ ready on product and for future clinical trials.

160 L reactor volume. Will supply infants and expanded access, if extra is available.

Allston has:

2000L reactor volume, which is the same scale used for Serazyme and Fabrazyme. Genzyme currently has three 2,000 L reactors. Will supply late onset trial.
- First run on this reactor looked good, but can’t use the drug made

Multiple Activities:

Process development and scale up: Start small and then build up

Process validation: Each process needs to be validated.

Regulatory requirements to demonstrate that the product is under control and can be repeated.

Genzyme must have 3-5 successful sequential running of the manufacturing process
- Must do this 3 times in the US and 5 times in Europe

Manufacturing of the drug:

Cell culture takes 1 – 3 weeks

They then harvest fluid that comes from the cell culture

Purification of the fluid that was harvested (multiple steps to do this)

Make bulk drug

Formulation

Storage and transport

The cell culture and harvesting of fluid is a continuous process.

Every step of the manufacturing process requires research and development and must be presented to the FDA.

The whole process takes from 6 – 7 months from start to finish.

VII. Dosing Issues:

Genzyme is still not sure about the proper dosing level, particularly for adults.

Clearly, the general enzyme requirements of Pompe’s Disease are much greater than the enzyme requirements of the other Lysosomal Storage Diseases currently being treated with enzyme replacement therapy

In 2004 they intend to keep researching enzyme targeting to make the dosage more effective and reduce the amount required

NOTE: Our intent was to also address Dr. Slonim’s presentation on diet/exercise treatment and Dr. Amalfitano’s presentation on the potential of gene therapy for Pompe’s Disease, however, we ran out of time. We will follow up with calls on these two topics in the first half of 2004.

The AMDA would like to thank Brian White for supplying this summary, and for coordinating the conference call with Marsha Zimmerman, AMDA.

Session #3
January 27, 2004
Topic – Nutrition and Exercise Therapy Program

Nutrition and Exercise Therapy Program

Dr. Slonim provided an overview of the Nutrition and Exercise Therapy (NET) program he is currently using for patients to help fight the effects of Pompe disease. Traditionally, textbooks and the medical literature do not prescribe any therapy for Pompe disease. However, his group has found that the combination of nutrition therapy and daily aerobic exercise have provided positive results for patients. In some cases patients have made significant improvements and regained mobility previously lost. In other cases patients appear to have reached a level of stability that they are able to maintain until the enzyme replacement therapy is available.

Nutrition therapy consists of a high protein, low carbohydrate, and moderately high fat diet. It is conceptually similar to the Adkins diet and looks to increase the amount of protein consumed in order to compensate for the body’s consumption of protein when glycogen cannot be broken down sufficiently due to the deficiency of the acid alpha-glucosidase enzyme. The diet also seeks to minimize carbohydrate intake in order to reduce the amount of excess glycogen stored in the muscle lysosomes. The diet is customized and depends on an individual’s nutritional needs. Likewise, the aerobic exercise is customized to fit in with the patient’s exercise needs and capacity. Many Pompe disease patients are calorically deprived and either get full rapidly when eating or have problems with diarrhea and have difficulty keeping weight on.

Alanine

The NET program also utilizes L.alanine as an amino acid protein supplement. Dr. Slonim believes that Pompe disease patients are consuming proteins when their bodies are not breaking down a sufficient amount of glycogen due to the enzyme deficiency. Therefore, alanine supplementation replenishes that supply. Alanine needs to be taken several times a day and the effect of the alanine appears to be maximized if taken at different times throughout the day. Although this may be difficult for patients that work, the current thinking is to try to take ¼ of a teaspoon four times a day. Most patients obtain alanine in powdered form, however, there is a company in California that sells alanine in tablet form. A patient reported that JoMar (sp?) Labs in California sells alanine in either capsule or powder form. Ordering can be done over the Internet and the process is very simple. Dr Slonim uses L.alanine procured from Ajinomoto, a company located in Nth Carolina. Unfortunately, they will not sell it to patients and will not sell in quantities less than 10 kg

A mother of a patient reported that Genzyme did not allow her child to continue using alanine in the infant ERT trial. This was a concern to several patients on the call and it was agreed that this would be an item to take up with Genzyme if they intended to require adults to no longer take alanine as part of the late onset trial. This would be especially difficult since the first part of the late onset trial is simply to look at physical performance and doesn’t include any enzyme therapy.

Exercise

The exercise component of the NET program consists of submaximal daily exercise designed to work, but not overstress the muscles. Dr. Slonim has seen tangible results with patients that exercise, especially youngsters, some who have been able to regain a certain amount of walking capability after adopting an exercise program. The submaximal program does not include the traditional type of exercise such as weightlifting or heavy aerobic activity. These forms of exercise may damage the muscle by burning amino acids and increasing the breakdown of protein since the glycogen the body needs when exercising is not available in Pompe patients. [NOTE – Dr. Slonim emphasized that this is the theory as to what occurs in the body of a person with Pompe disease but it has not been scientifically proven to date.] Under the submaximal exercise program a patient hits his/her peak at approximately 60-65% of the maximum heart rate. The exercise program is designed based on the person’s individual exercise abilities and is structured so to minimize the amount of protein consumed by the body.

Compliance

Dr. Slonim and Linda Bulone both emphasized that compliance is probably the most important element of the NET program. The patients must exercise daily and follow the dietary restrictions strictly. They have found that strict compliance usually leads to positive results and that there is a significant difference between the results of a person that is 100% compliant and the results that are received with 50% compliance. In short, a lifestyle change is required in order to help guarantee compliance and the patient must be dedicated to the program. In addition, it appears that better results occur if the program is implemented and followed as early as possible after the discovery of the disease. It is easier to slow the progression if this occurs.

It is important for patients to have an individualized exercise program developed based on their particular physical situation. The treadmill is a good source of exercise if it can be tolerated. Others have found that resistance – type exercise has been effective. However, heavy lifting should not be utilized and the program should be individualized.

Dr. Slonim briefly discussed what has been described regarding the affect of the enzyme in infants and in the knock out mouse. Results have shown the enzyme to be effective in decreasing glycogen in the cardiac muscle and the diaphragm but less effective in decreasing glycogen in skeletal muscles. Therefore, Dr Slonim feels it will be essential to utilize the NET therapy in conjunction with the enzyme replacement therapy when it becomes available in order to ensure the maximum effect of the treatment. This is especially true with adults, where the results of enzyme replacement have not been as dramatic as with children/infants.

Respiratory Issues

Dr. Slonim emphasized the importance for Pompe patients to react quickly to any developing respiratory infections. Do not let your physician downplay the seriousness of the illness and emphasize to the physician the impacts it can have on a Pompe patient. The respiratory muscles of Pompe patients are vulnerable and are weakened and respiratory infections need to be addressed immediately. In severe cases it may require early hospitalization. The infections need to be treated with antibiotics and intense nutrition therapy and this may, in some cases, need to be done intravenously.

Dr. Slonim believed it beneficial for Pompe patients to get flu shots as well as a pneumonia shot.

Ephedrine

Some patients that are following the NET program currently are taking ephedrine. It is believed that this acts similar to the exercise component in the NET program in stimulating the muscles and enhancing fatty acid relief, however, this has not been fully confirmed to date. It is important that the dosage be correct for those using ephedrine, since too high a dosage could stimulate the heart rate and increase blood pressure to an unhealthy level. The patient needs to maintain enough body weight because a side effect in many is weight loss. Another side effect of ephedrine in males is prostate enlargement, which may effect bladder function. Although the FDA has recently banned ephedra this is different than the ephedrine sulfate prescribed and should not impact patient’s ability to obtain medically prescribed ephedrine.

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The views contained in this summary do not necessarily reflect the views of the AMDA (board and/or directors). It should be noted that data derived from this therapy has not been published. (March 19, 2004)

The AMDA would like to thank Brian White for supplying this summary, and for coordinating the conference call with Marsha Zimmerman, AMDA.

Session #5
May 25, 2004
Topic - Insurance Issues
Presented By: Tricia Sawayer, RN, CCM
Senior Case Management Specialist, Genzyme Support Team

Tricia Sawayer has worked with all types of patients to include Fabry, Gaucher, MPS-1 and now patients diagnosed with Pompe disease. She has also helped the patients diagnosed with Fabry, Gauche, and MPS-1 with insurance issues and reimbursements questions.

Tricia covered a broad range of questions and concerns surrounding insurance issues, however she could not discuss insurance issues surrounding a non-FDA approved drug. Tricia however, did talk about general insurance issues and how the Genzyme Treatment Support Team can assist the patient figure out their individual insurance policies.

There are three general types of insurance:

Medicaid
Medicare
Commercial or private insurance.

There are some patients with late onset Pompe disease that have Medicare due to their disabilities. Medicare is a health care coverage for those older than 65 years old, those who have been disabled for two or more years and people diagnosed with end stage renal disease.

Medicare is a federally sponsored program that is standardized across the country. Medicare is totally funded by federal funds and is portable between states. Medicare is now branching off into Medicare HMO plans and they are testing Medicare PPO plans in the state of Florida.

Standard Medicare for enzyme replacement therapy (ERT), such as Cerezyme, Fabryzme and Aldurazyme is covered under Part B and covers 80% of the cost. Tricia strongly recommends a Medicare supplemental or secondary insurance to assist with the remaining 20%. ERT is covered to be given in a doctor’s office or outpatient setting. This is covered as an adjunct to a physician service.

Medicaid is a state administered program and it is very state specific. Medicaid receives both federal funding and state funding. Each state looks at their own residential needs, the needs of their population, and the state decides how to manage their funds and how many will be covered, who will be covered, etc.

Medicaid has a lot of different programs within each state. Some are based on income, and some are medically needy programs for people who have high cost health insurance issues. There are also "share of cost" programs, where they assist after a patient spends a certain amount of money each month. The state programs are always changing.

Case managers at Genzyme are assigned by regions and by patient population. This helps them give one-on-one case management services and helps them keep current with specific state issues surrounding Medicaid and commercial insurances.

Commercial insurance refers to Blue Cross Blue Shield, Cigna, Etna, and Humana (as examples) and they are also known as private insurance.

There are many plan types within these companies and each plan type can have different types of coverage. If the insurance is through your employer, you might be able can tweak the policy to meet your own health needs.

Plan types: HMO is a network of hospitals and health care providers and when you sign up for an HMO plan, it is expected that you will receive your care within this network. Your choice in choosing a hospital and a doctor might be limited; however, these plans can work well for a lot of people. If your hospital and health care provider are in the HMO network this usually results in far less paperwork, less out of pocket expenses and no deductibles. The life time max on HMO policies is frequently unlimited, but this must be verified first. HMO’s have been around for quite a while. They now have hybrid plans that can offer out of network benefits similar to a PPO plan. HMO choice and HMO select are examples of a hybrid plan. Unfortunately, they aren’t all black and white anymore.

PPO is a health care plan that provides in and out of network benefits, with incentives to stay in network. However, you do have the flexibility to go out of network to see a specialist. PPO has deductibles and out of pocket expenses.

Each health plan is different so you can’t assume anything.

Basic questions to ask when choosing a health care plan:

Can I see my present Dr?
Can I go to my preferred hospital?
Can I go see a doctor out of network or out of state?
Will I need a referral?
What is the deductible?
What will my out-of-pocket costs be?
What will the out-of-pocket costs include?
Does it include the deductible?
Do co-pays count toward the out-of-pocket costs?
Is there a life time maximum on the policy and if so, what is it?
What is the prescription benefits and co-pay?
Is there a dollar amount cap on the prescription benefits?

ERT can either be placed under the prescription benefits (retail or mail order pharmacy) or under the major medical benefits. You will need to go verify benefits and ask specific questions to determine which place the ERT may fall under with your insurance.

Pre-existing condition waiting period: A condition that was in place or diagnosed when you started the policy. Pre existing waiting period can be up to 12 months and can be waived or reduced if you can show that you have been covered under a group health insurance policy without a break for more than 63 days. This is done by obtaining a certificate of creditable coverage. It is a piece of paper stating that you were insured under this plan from one date to another and then your current health insurance carrier will credit you for the time that you were covered.

It is important to know that you should keep group coverage for as long as possible. An individual insurance coverage generally doesn’t have the same protections as the group coverage does.

If you have a Cobra Policy that is about to end, you will want to call the office of your State Insurance Commissioner and inquire about guarantee issue options in your state.

Guarantee issue options only exist when you are exhausting, changing or somehow ending group coverage. It can all be very complicated.

ERT is widely covered by Medicare, Medicaid and commercial insurance. When you ask for coverage you will have to show that you were accurately diagnosed (blood test, biopsy, etc) and to show that ERT is medically indicated. The Genzyme Treatment Support has been doing this for over 10 years now with Ceredase and now Cerezyme.

The Genzyme Treatment Support knows how to assist the patient and the doctor with prior authorization. They can also help the doctor fill out the paperwork for the insurance company.

What happens if you exhaust a lifetime maximum on your health insurance policy? If you have insurance through your employer, ask your employer if there is an option that didn’t have a lifetime maximum or if you can switch to another insurance and start a new lifetime maximum.

You can get health insurance through trade groups such as carpenter, unions, college alumni groups, church groups, etc. The group insurance usually has better protection than an individual policy. Or look at the state options as far as high risk options. Health insurance coverage for people that can’t get individual policies or if their COBRA runs out they can go to a guarantee issue or a high risk pool. This is very different from state to state and it is hard to say what options are until the Genzyme Treatment Support team knows what state you live in.

Q: If you have supplemental insurance can you use that insurance to cover the difference between what Medicare covers and the part you are responsible for?

A: Part A is given to people when they turn 65. But you have to actually choose Part B, since ERT is covered under Part B. Medicare Part A is hospital insurance and Part B will cover things outside the hospital (doctor’s office or other outpatient setting). It covers 80% and you will still need some type of insurance to cover the other 20%. It would be wise to look into picking up a Medicare supplemental plan. This plan will mirror the Medicare plan exactly. If Medicare covers something then the Medicare supplemental plan will also cover it. The main purpose of having a secondary insurance plan (such as keeping your work insurance after you retire) is to cover the remaining 20%, which would then give you 100% coverage.

Q: In 2006, with the new Medicare plan that is coming out, I was under the impression that Medicare wasn’t going to allow a secondary insurance to cover the remaining 20%.

A. Tricia thinks a secondary insurance will still be able to cover it. Genzyme hasn’t seen anything stating that Medicare would not allow other insurance to cover the 20%. The Medicare Prescription plan will also change, and it might not affect ERT since you can’t get this through a commercial pharmacy like a Walgreen’s.

One thing to watch is the Medicare HMO. You have to ask some very tough questions. Medicare HMO is only mandated to cover what basic Medicare covers which is 80%. Most do cover at 100%, plus you get other benefits (prescription eyeglass coverage, and some prescriptions paid for), but Genzyme has seen a few Medicare HMO’s that only covered ERT at 80%. Fortunately they have taken away the penalty from rolling out of a Medicare HMO plan to a standard Medicare plan. But it really depends on state to state.

Q: Have any insurance companies balked at paying for treatments that are considered to be experimental?

A: When the FDA approves a drug, then it is no longer considered experimental. When working with Aldurazyme and Fabryzme which was approved by the FDA last year, Genzyme tried to cover as much ground as they could. Genzyme put together information packets that the provider could send out to the insurance companies that included: the letter from the FDA showing that the drug was approved. The Genzyme Treatment Support team is trying to target the larger health insurance companies first to try to educate them as soon as possible about "rare genetic disorders". Genzyme will send information to these insurance companies as to what the therapy is, how the disease is diagnosed and the treatment required. Also the Genzyme Treatment Support team will find try one health insurance case manager to work with during this education process.

Q: Can you talk a little bit about Home Care? Is this allowed with Medicare or are there rules?

A: When you start getting ERT, you would be receiving this in an out patient hospital setting. Since ERT is covered under Part B (adjunct to physician services) home infusion is not an option. If you have a true secondary insurance, home infusion therapy may be an option under the secondary insurance.

Q: If you have obtained Medicare due to a disability, and if your health improved so there is no longer a disability, what would my insurance options be?

A: Any type of disability insurance and it is up to the state to monitor the level of disability. Some people have to go for yearly medical checks and others go less often and some states don’t monitored at all. You have to look at the options within you state, such as a high risk pool, or a medically needed Medicaid program.

Q: When talking about ERT are you separating out the cost of the drug with the other associated infusion costs? Will they bill separately for the enzyme and then bill for administering the enzyme?

A: If ERT is done in an outpatient hospital setting, then they may bill together for the drug and the infusion. If it is in an outpatient setting such as a doctor’s office, then they usually bill separately. Some health insurance companies have preferred vendors for their injectable medications and they will tell the hospital which pharmacy they can order these medications from. Then the pharmacy would purchase it and bill the health insurance plan, and then ship it to the hospital, so then the hospital would only charge for the infusion costs. However, it is very dependent on the type of insurance you have.

It is very important to verify benefits and to ask if ERT is covered under you health insurance plan. ERT may have to go to a prior authorization process with your insurance.

If you would like Genzyme’s help in contacting your health insurance company, you would need to sign a patient authorization (HIPAA) form.

Q: Once you hit your lifetime cap with your insurance company are there other options available to us?

A: There are lots of programs for medically needed people. If you are exhausting a lifetime maximum and if you are employed, talk to your employer before capping out your policy to see if there are other, better options for you. Also there is a high risk pool health insurance options in different states. Genzyme could help you find out the different options that are available in your state.

Q: Are there states where Medicaid does not cover ERT?

A: No, I haven’t had Medicaid deny ERT in any state; however, they do ask a lot of questions. It helps to have a case manager when dealing with Medicaid.

Q: Is it typical for Medicaid to deny you due to income?

A: Until you make an appointment with a services representative to find out what types of programs are available, it is hard to know what is available to you.

If Medicaid covers an item, it is usually covered at 100%. Coverage is different than reimbursement. Medicaid may cover an item, but they may reimburse lower than the provider charges.

Q: Can you talk more about pre-existing conditions?

A: It is important to know how your health insurance coverage defines a pre-existing condition. How far do they look back to see if the condition is pre-existing? What questions did the health insurance company ask? If you have a pre-existing condition and the health insurance company has a pre-existing condition waiting period of one year, then you may have to wait out that one year prior to receiving benefits. Obtaining a certificate of creditable coverage from your previous insurance companies may contribute to the pre-existing condition waiting period being waived or reduced. It is best to get your insurance company’s guidelines at the very beginning.

Q: Should I get Long Term Care Insurance?

A: This is separate from health insurance and wouldn’t pay for ERT.

The AMDA would like to thank Marsha Zimmerman for supplying this summary, and for coordinating the conference call.