Valerion Therapeutics Demonstrates a New Mechanism for Treating Pompe Disease

 PR NewsWire March 3, 2017

Valerion Therapeutics Demonstrates a New Mechanism for Treating Pompe Disease Concord, MA-- March 3, 2017--

Valerion Therapeutics announced today that it has developed a fusion protein, VAL-1221, which combines its proprietary antibody delivery technology with recombinant human acid alpha-glucosidase (rhGAA) to improve the delivery of rhGAA into affected tissues of patients with Pompe disease (Glycogen Storage Disease, Type II; GSDII). Pompe disease is caused by a deficiency of the lysosomal enzyme, GAA, that leads to accumulation of glycogen in multiple tissues, with cardiac and skeletal muscles being the most severely affected. Glycogen, a complex sugar, is known to accumulate in both the lysosomes and cytoplasm of late-onset Pompe disease patients. However, the currently approved enzyme-replacement therapy is limited to the lysosome for therapeutic activity.

In a study recently published by Sun et al, Duke University, Division of Medical Genetics (J Mol Med, 2 Feb, 2017), Valerion’s proprietary antibody-mediated enzyme replacement therapy [VAL-1221 (humanized 3E10Fab-GAA)] demonstrated efficacy in both cultured Pompe patient fibroblasts and in Pompe (GAA-deficient) mice. Importantly, not only did VAL-1221 reduce lysosomal glycogen accumulation as effectively as rhGAA (current enzyme replacement therapy or ERT) but it was also demonstrated to penetrate living cells independent of the mannose-6-phopsphate receptor (M6PR), the mechanism of cell entry associated with current ERT which directs enzyme to the lysosome. These results suggest that VAL-1221 has potential benefit over current ERT by clearing both lysosomal and cytoplasmic glycogen.

Valerion is initiating a clinical trial in both the US (Duke University Medical Center) and the UK (The National Hospital for Neurology and Neurosurgery, London) next month to evaluate this novel therapy in patients with late-onset Pompe disease.

“We believe our findings are a game-changer in the treatment of Pompe disease,” said Deborah Ramsdell, Valerion’s Chief Executive Officer. “We are excited about the potential to help patients who are looking for alternatives to the current approved therapy.”

This randomized, parallel active control, single and repeat dose, dose-escalation study will evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics and preliminary efficacy of VAL-1221 in ambulatory and ventilator-free patients with late-onset Pompe Disease. Top line results are expected later this year.

 “The approach is different from other ERT approaches as this has the ability to act on glycogen in the cytoplasm. This remains a challenge in the field of Pompe disease,” said Dr. Priya Kishnani, Principal Investigator at Duke University Medical Center. “Glycogen that is leached out (either due to shearing effect or rupture of lysosomes) into cytoplasm needs to be cleared. The collaboration with Valerion is an important one as it allows us to look at whether VAL-1221 has this additional benefit.”

About Valerion Therapeutics Valerion Therapeutics ( is a biotechnology company focused on developing therapies for orphan genetic diseases utilizing a proprietary antibody-mediated delivery platform to target specific tissues.

This platform is capable of enhanced intracellular delivery of a variety of active therapeutic molecules via a well-known and broadly studied transport mechanism that is present in muscles and neurons. Pipeline candidates include therapies aimed at addressing orphan genetic disorders with limited or no current therapies.

Valerion Therapeutics is part of the Alopexx Enterprises portfolio of companies (

Media Contact Deborah Ramsdell 781-775-7688

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December 8, 2016 Amicus Therapeutics Announces Positive Preliminary Data from Phase 1/2 Study of Novel Treatment Paradigm for Pompe Disease

December 8, 2016

Amicus Therapeutics Announces Positive Preliminary Data from Phase 1/2 Study of
Novel Treatment Paradigm for Pompe Disease

ATB200/AT2221 Safety Data Show No Infusion-Associated Reactions Following 100+ Infusions Clinical Pharmacokinetic (PK) Profile as Predicted Based on Previously Reported Preclinical Data Biomarkers of Muscle Damage are Generally Stable or Trending Towards Improvement Conference Call at 8:30am ET

CRANBURY, N.J., Dec. 08, 2016 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq:FOLD), a global biotechnology company at the forefront of rare and orphan diseases, today announced positive preliminary data from a global Phase 1/2 study (ATB200-02) to investigate ATB200/AT2221. ATB200/AT2221 is a novel treatment paradigm that consists of ATB200, a unique recombinant human acid alpha-glucosidase (rhGAA) enzyme with optimized carbohydrate structures, particularly mannose-6 phosphate (M6P), to enhance uptake, co-administered with AT2221, a pharmacological chaperone.

ATB200-02 Study - Design and Objectives

Š Primary objectives: to evaluate safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of
Š Study duration: 18-week primary treatment period with all patients eligible for a long-term extension
Š Patient cohorts: ambulatory ERT-switch patients (Cohort 1), non-ambulatory ERT-switch patients (Cohort 2) and
ERT-naïve patients (Cohort 3). Enrolling up to ~20 total patients across all cohorts.
Š Preliminary data now available:
» Safety data for nine patients through interim data analysis (maximum 24 weeks)
» PK and PD (muscle biomarker) data through Week 14 for four patients in Cohort 1

ATB200-02 Study - Preliminary Data Highlights in Initial ERT-Switch Patients

Š ATB200/AT2221 safety measures (n=9) showed:
» No serious adverse events (SAEs)
» AEs were generally mild and transient

Š To date, ATB200/AT2221 has shown no infusion-associated reactions following 100+ infusions

Š Clinical PK profile through Week 14 was as predicted based on previously reported preclinical data (n=4).
» ATB200 plasma clearance suggests optimized carbohydrate structure provides efficient uptake into tissues
» ATB200 alone showed greater than dose-proportional increases in exposure, which was further enhanced with the addition of the chaperone AT2221

Š Biomarkers of muscle damage were trending toward improvement or stable through Week 14 (n=4)
» Biomarkers of muscle damage (creatine kinase (CK) enzyme, alanine aminotransferase (ALT), and aspartate aminotransferase (AST)) in the initial four ERT-switch patients showed early trends toward improvement in two patients and were stable in the other two patients.

"We set out on this journey in Pompe disease at Amicus with the intent to develop a new treatment paradigm," said John F. Crowley, Chairman and Chief Executive Officer of Amicus Therapeutics, Inc. "These preliminary results, while still early, give us greater confidence that we are developing a drug regimen that may be highly differentiated from any other approach. Even at this interim analysis, it is very encouraging to see no infusion-associated reactions in these initial patients, as well as the desired PK profile and improvements in key muscle damage biomarkers in two of four patients. We have much more work to do to generate additional important data in the months ahead but this is an excellent foundation for this program and for persons living with this devastating disorder."Barry Byrne, M.D., Ph.D., Professor, Pediatrics and Molecular Genetics & Microbiology and Director, University of Florida Powell Center, stated, "As a lead investigator in the ATB200-02 study, I have had a positive initial experience with the novel Amicus treatment regimen for Pompe. Elevated levels of CK, ALT and AST indicate damage to muscle tissue in patients with Pompe disease. A reduction in markers of muscle damage, such as CK, ALT, and AST in patients with Pompe disease is very encouraging, especially with favorable safety and tolerability. If these positive trends continue, ATB200/AT2221 may help to address the significant unmet need among Pompe patients. I look forward to seeing additional data from this clinical study."

Conference Call and Webcast
Amicus Therapeutics will host a conference call and webcast today, December 8, 2016 at 8:30 a.m. ET. Interested participants and investors may access the conference call by dialing 877-303-5859 (U.S./Canada) or 678-224-7784 (international). The slide presentation to accompany this conference call and webcast will be available at

An audio webcast can also be accessed via the Investors section of the Amicus Therapeutics corporate web site at, and will be archived for 30 days. Web participants are encouraged to go to the web site
15 minutes prior to the start of the call to register, download and install any necessary software. A telephonic replay of the call will be available for seven days beginning at 11:30 a.m. ET today. Access numbers for this replay are 855-859-2056 (U.S./Canada) and 404-537-3406 (international); participant code 34348280.

About ATB200/AT2221
ATB200/AT2221 is a novel treatment paradigm that consists of ATB200, a unique recombinant human acid alpha- glucosidase (rhGAA) enzyme with optimized carbohydrate structures, particularly mannose-6 phosphate (M6P), to enhance uptake, co-administered with AT2221, a pharmacological chaperone. In preclinical studies, ATB200 was associated with increased tissue enzyme levels and reduced glycogen levels in muscle, which was further improved when AT2221 was co- administered with ATB200. Amicus Therapeutics is currently conducting a global Phase 1/2 study (ATB200-02) to evaluate the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics of ATB200/AT2221.

About Pompe Disease
Pompe disease is an inherited lysosomal storage disorder caused by deficiency of an enzyme called acid alpha-glucosidase (GAA). Reduced or absent levels of GAA lead to the accumulation of the substrate glycogen in the lysosomes of muscles and other tissues. Progressive accumulation of glycogen is believed to lead to the morbidity and mortality associated with Pompe disease, including muscle weakness and respiratory insufficiency.

About Amicus Therapeutics
Amicus Therapeutics (Nasdaq:FOLD) is a global biotechnology company at the forefront of therapies for rare and orphan diseases. The Company has a robust pipeline of advanced therapies for a broad range of human genetic diseases. Amicus' lead programs in development include the small molecule pharmacological chaperone migalastat as a monotherapy for Fabry disease, SD-101 for Epidermolysis Bullosa (EB), as well as novel enzyme replacement therapy (ERT) and biologic products for Fabry disease, Pompe disease, and other rare and devastating diseases.

Forward-Looking Statements
This press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995 relating to preclinical and clinical development of our product candidates, the timing and reporting of results from preclinical studies and clinical trials, the prospects and timing of the potential regulatory approval of our product candidates, commercialization plans, financing plans, and the projected cash position for the Company. In particular, this press release relates to the preliminary data from a global Phase 1/2 study (ATB200-02) to investigate ATB200/AT2221. The inclusion of forward-looking statements arising from this preliminary data and study should not be regarded as a representation by us that any of our plans will be achieved. Any or all of the forward-looking statements in this press release may turn out to be wrong and can be affected by inaccurate assumptions we might make or by known or unknown risks and uncertainties. For example, with respect to statements regarding the goals, progress, timing, and outcomes of discussions with regulatory authorities, and in particular the potential goals, progress, timing, and results of preclinical studies and clinical trials, actual results may differ materially from those set forth in this release due to the risks and uncertainties inherent in our business, including, without limitation: the potential that results of clinical or preclinical studies indicate that the product candidates are unsafe or ineffective; the potential that it may be difficult to enroll patients in our clinical trials; the potential that regulatory authorities, including the FDA, EMA, and PMDA, may not grant or may delay approval for our product candidates; the potential that we may not be successful in commercializing Galafold in Europe or our other product candidates if and when approved; the potential that preclinical and clinical studies could be delayed because we identify serious side effects or other safety issues; and the potential that we will need additional funding to complete all of our studies. Further, the results of earlier preclinical studies and/or clinical trials may not be predictive of future results. The preliminary data and Phase 1/2 study discussed herein is inherently preliminary and early in the study, derived from a limited patient set, and later trial results with this patient set or others may not be consistent with these preliminary results. With respect to statements regarding projections of the Company's cash position, actual results may differ based on market factors and the Company's ability to execute its operational and budget plans. In addition, all forward-looking statements are subject to other risksdetailed in our Annual Report on Form 10-K for the year ended December 31, 2015 and Quarterly Report on Form 10-Q for the quarter ended September 30, 2016. You are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date hereof. All forward-looking statements are qualified in their entirety by this cautionary statement, and we undertake no obligation to revise or update this news release to reflect events or circumstances after the date hereof.



Investors/Media: Amicus Therapeutics Sara Pellegrino
Senior Director, Investor Relations

(609) 662-5044

Media: MWW PR
Sid Dinsay

(646) 381-9017

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Source: Amicus Therapeutics, Inc

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Sanofi Genzyme Begins Pivotal Phase 3 Trial of NeoGAA Investigational Second-Generation Therapy for Pompe Disease



Sanofi Genzyme Begins Pivotal Phase 3 Trial of NeoGAA Investigational Second-Generation Therapy for Pompe Disease

Cambridge, Mass. November 4, 2016 - Sanofi Genzyme, the specialty care global business unit of Sanofi, announced today that the first patient has been enrolled and received an infusion in a pivotal Phase 3 clinical trial named COMET for the investigational therapy neoGAA. NeoGAA is a second- generation enzyme replacement therapy being studied for the treatment of Pompe disease.

Pompe disease is a progressive, debilitating and often fatal neuromuscular disease caused by a genetic deficiency or dysfunction of the lysosomal enzyme acid alpha-glucosidase (GAA) affecting an estimated 50,000 people worldwide. Patients often lose their ability to walk and require wheelchairs to assist with mobility. They also often experience difficulty breathing and may require mechanical ventilation to breathe.

COMET is a Phase 3 randomized, multi-center, multi-national, double-blinded study to compare the efficacy and safety of repeated bi-weekly infusions of neoGAA and alglucosidase alfa in treatment- naïve patients with late-onset Pompe disease. The primary endpoint of the Phase 3 trial is the effect of neoGAA on respiratory muscle strength as measured by percent predicted forced vital capacity in the upright position. Other assessments include functional endurance measured by the 6-minute walk test, muscle strength, motor function, health-related quality of life, and patient reported outcomes. Approximately 96 patients, ages 3 and up, are expected to be enrolled in the study, which will last up to 3 years, including a 49-week blinded treatment period and a 96-week open-label treatment period. For more information on the trial, please visit or

“The beginning of this pivotal trial is a critical milestone in Sanofi Genzyme’s long history of advancing the understanding of Pompe disease,” said Sanofi Genzyme Therapeutic Area Head for Rare Diseases Development Rand Sutherland, M.D. “We are committed to researching and developing novel treatment options to address the unmet needs of Pompe patients.”

“Pompe disease is a serious and progressive condition,” said Shafeeq S. Ladha, M.D., Ira A. and Mary Lou Fulton Chair in Motor Neuron Diseases, Director, Gregory W. Fulton ALS and Neuromuscular Disorders Center, Department of Neurology, Barrow Neurological Institute. “My hope is that a second generation enzyme replacement therapy with improved targeting to skeletal muscle may provide additional benefit to patients with this debilitating disease.”

About neoGAA

NeoGAA is an investigational second-generation alglucosidase alfa enzyme replacement therapy that has been specifically designed for enhanced receptor targeting and enzyme uptake through greater affinity for the M6P receptors on muscle cells, with the aim of enhancing glycogen clearance and improving on the clinical efficacy achieved with alglucosidase alfa. In preclinical studies, neoGAA showed approximately five-fold greater potency than alglucosidase alfa in terms of tissue glycogen reduction compared to alglucosidase alfa. In the Pompe mouse model, neoGAA reduced similar levels of substrate at one-fifth the dose of alglucosidase alfa.1 The clinical significance of this data requires further investigation.


Results from the Phase 1/2 proof of concept study were reported at the WORLD Symposium earlier this year.

About Sanofi

Sanofi, a global healthcare leader, discovers, develops and distributes therapeutic solutions focused on patients' needs. Sanofi is organized into five global business units: Diabetes and Cardiovascular, General Medicines and Emerging Markets, Sanofi Genzyme, Sanofi Pasteur and Merial. Sanofi is listed in Paris (EURONEXT: SAN) and in New York (NYSE: SNY).

Sanofi Genzyme focuses on developing specialty treatments for debilitating diseases that are often difficult to diagnose and treat, providing hope to patients and their families.

Genzyme® is a registered trademark of Genzyme Corporation. Sanofi® is a registered trademark of Sanofi. All rights reserved.

Forward-Looking Statements

This press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, as amended. Forward-looking statements are statements that are not historical facts. These statements include projections and estimates and their underlying assumptions, statements regarding plans, objectives, intentions and expectations with respect to future financial results, events, operations, services, product development and potential, and statements regarding future performance. Forward-looking statements are generally identified by the words "expects", "anticipates", "believes", "intends", "estimates", "plans" and similar expressions. Although Sanofi's management believes that the expectations reflected in such forward-looking statements are reasonable, investors are cautioned that forward-looking information and statements are subject to various risks and uncertainties, many of which are difficult to predict and generally beyond the control of Sanofi, that could cause actual results and developments to differ materially from those expressed in, or implied or projected by, the forward-looking information and statements. These risks and uncertainties include among other things, the uncertainties inherent in research and development, future clinical data and analysis, including post marketing, decisions by regulatory authorities, such as the FDA or the EMA, regarding whether and when to approve any drug, device or biological application that may be filed for any such product candidates as well as their decisions regarding labelling and other matters that could affect the availability or commercial potential of such product candidates, the absence of guarantee that the product candidates if approved will be commercially successful, the future approval and commercial success of therapeutic alternatives, Sanofi's ability to benefit from external growth opportunities and/or obtain regulatory clearances, risks associated with intellectual property and any related pending or future litigation and the ultimate outcome of such litigation, trends in exchange rates and prevailing interest rates, volatile economic conditions, the impact of cost containment initiatives and subsequent changes thereto, the average number of shares outstanding as well as those discussed or identified in the public filings with the SEC and the AMF made by Sanofi, including those listed under "Risk Factors" and "Cautionary Statement Regarding Forward-Looking Statements" in Sanofi's annual report on Form 20-F for the year ended December 31, 2015. Other than as required by applicable law, Sanofi does not undertake any obligation to update or revise any forward-looking information or statements.

1 Zhu et al, Molecular Therapy, 2009.


Media Relations

Lisa Clemence
Tel. : +1 617 768 6699


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10-17-2014 UPDATE

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BioMarin is currently seeking patients for a Phase 3 clinical trial in Late Onset Pompe Disease.

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Amicus Therapeutics Announces First Patient in Phase 2 Study for Pompe Disease

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We are the parents of Sari, a Belgian girl of 4,5 years old suffering from infantile Pompe´s disease.

Based on the normal development of the disease, Sari would have passed away already, probably before her 1st birthday. However she has been receiving an experimental treatment (enzyme replacement therapy) from the age of 8 months. This has kept her alive. The treatment exist of her receiving the missing enzyme through an intravenous .

Trial inclusion In order for Sari to receive this treatment we had to take her to the Sophia Children’s Hospital in Rotterdam (the Netherlands), which is 180 km away from where we live. She was only diagnosed at the age of 6 months. At that time this was the only place in the world where she could receive treatment and then only in a clinical trial. It took 2 months after the diagnoses for her to be admitted to the trial. She was 8 months old by then and very ill. Her heart was very enlarged, did not function well and her breathing was starting to cause problems. She was already dependant on intravenous feeding. 

Trial choice At the moment Sari was admitted it was not yet known if the therapy would have any effect. We only knew that up until then it had been taken well by three other patients, who started a few months earlier. Also there were hopeful results in studies with mice with Pompe´s disease. We decided we had no choice: not participating would result in Sari’s death, participating would at least give her a chance.

Trial effect of the therapy Initially it was the intention to drive her back and forward for the infusions, however immediately after admission she fell from infection into the other, which made it necessary to admit her. After 1 weeks of treatment she was finally transferred to the intensive care during a critical airway infection. After some doubt it was decided to put her on a respirator. Once again a choice which really was not a choice given the insecurity of the result of the therapy at that moment. Shortly thereafter she receive a trachea-canule. Because results where forthcoming it was finally decided to double the doses of the enzyme with all participating patients. About 4 weeks after the doubling up Sari was visibly getting better. First the heart function improved, then she started breathing herself much better and she had more strength in her upper body (head, arms, shoulders). At a given moment she could breath without the machine for 5 days! She could sit straight up without support for a full minute. There was even talk of removing her canule; she would be able to come home then. Unfortunately she was again plagued by infections, of the porta-cath(*) as well as the airways, which weakened her and she needed respiratory support again. Unfortunately she slowly declined to where she is now.

Trial-family live Ultimately Sari was hospitalized at the SKZ (Rotterdam) for two years, of which 20 months on the intensive care unit. First she was to weak to be transferred to a treatment center closer to home, Other matters came into play later: the infusions in Belgian, choosing the right breathing apparatus. It all needed to be sorted out. It was new for everyone involved. In the end even an unfortunate broken leg was involved. All this time we had lived separate as a family, we had a second home at the Ronald McDonald house, close to the hospital. Mother had to stop working and stayed with Sari during the week. Father worked partly in Belgium and partly in Rotterdam and took care of the other two children. Weekends we were mostly together in Rotterdam. We divided our time as good as possible between Sari and the other two children. 

Situation now socially Since the transfer to Belgium everything has slowly evolved to the situation the way it is now. Sari is admitted at the rehabilitation center for children, at a specialized department for respiratory disorders. The medical care is geared to taking care of a child with her limitations. She is in a living group, follows different therapies daily (physical, speech etc.), goes to school and stays the nights as well. For the moment she is home every other weekend. During this weekend we take over all the intensive care taking. We both received training for this at the SKZ(Rotterdam) She also receives daily physical therapy, alternating by our self and a neighbor-physical therapist and we regularly invite someone to come and play with Sari. The whole home care process is very heavy, physically and mentally, for us, 24 hr care for someone who is totally dependant, as well as the normal daily household chores with 2 children, is not an easy matter! We have to get up several times at night for alarms of machines, taking care of Sari, or change her position in bed. We are exhausted after each weekend. Transportation has special demands. We usually need a Red Cross ambulance with a supporting team. So far mother, who is also a nurse, accompanies each transport. When Sari is at the Rehab center we visit her regularly, even though it is 110 km away from where we live. We also ask family who live close by to visit her When Sari is seriously ill, usually due to an infection, or for tests, she is admitted at the University Hospital of Leuven (Belgium). Admission is always on the intensive care because of the respiratory support. During the past 2 years she has been admitted 12 times. These periods we are extra vigilant and family live is extra disturbed. 

Situation now physically The heart problems she used to have are almost gone. Regretfully the therapy does not have the same effect on the other muscles in her body. They become weaker, slowly but surely or they cannot follow her growth, which makes her more and more dependant on medical support and aids. She is continually on respiratory support through a trache/canule* and is fed through a feeding pump through a gastro/stomie *. She is wheelchair bound wit an adapted sitting shell. In this she can sit up straight for only a few hours a day. The strength in her arms is declining more and more lately which limits her. She is also faced with scoliosis * and contractures* on the hips, knees and ankle joints, therefore she needs braces a couple of hours a day. In addition she is suffering from a slight hearing loss. She needed to wear hearing aids for a while, which is no longer necessary. 

Situation now mentally Despite the many physical limitations Sari is developing mentally fairly normal. She is reading books, plays games and crafts on the tablet on her chair (coloring, puzzles, memory etc) and even plays with the computer with a special mouse. Despite the canule she is developing a voice, she is forming more and more understandable sounds and is trying to sing along. We are even capable of having a phone conversation. 

Infusions Momentarily the infusions are given every two weeks. Until recently this was weekly. Sari has receive a port-a-cath* after 12 weeks which is used with a syringe every time she has an infusion. Usually the mother does this and Sari agrees with this. The infusions take several hours. Usually they are started around noon and by the evening the whole process is finished. During this time she has to process lots of fluids. This is why she regularly gets extra "plasma medication" on the infusion day. The infusion speed is very slow in the beginning, to get the body used to the strange enzyme. Then it is gradually increased. Sari has had a reaction during the infusions a couple of times. She gets restless, feels uncomfortable, and gets a high fever, irregular hart action and sometimes discoloration of the skin. Fortunately this happens rarely when she is already weakened because of illness before the infusion. 

We, the parents We have been on the tips of our toes for a couple of years. Always vigilant, always under stress, always uncertain on what the future will bring. And usually tired. When Sari is ill, the tension increases. We constantly have to fight for the quality of live for our daughter, for ourselves and for the other two children. Regularly we encounter institutions, administrations, persons who are not well adjusted to the needs of a child that requires so much help. In the past there has been some uncertainty about the availability of the medication. This brings additional stress and uncertainty. 

Brother and sister Both our other children are reasonably well under the circumstances. They have difficult periods as well as we do. They have been through a lot as well. First the news their sister was going to die, then the news that "the doctors were going to try to cure her". Then the long period of the weekly traveling to Rotterdam. The confrontation with seriously ill, sometimes dying children on the intensive care. Having to do without Mommy or Daddy on a regular bases. The uncertainty of Sari´s future. They live and work through it in their own way. We from our side try to be open and honest with them and answer in understandable language to difficult questions they sometimes ask. They have an extra special contact with Sari. For them Sari is a second sister, they play with sing songs with, read book with, make jokes with and so on. They form a fantastic activity therapist duo. 

Worries At the moment we have a very good contact with Sari and think she is still happy. Our main Concern is that she will, in spite of the treatment, become increasingly weaker, that she will becoming more and more aware of her limitations and one day will not be happy anymore. We ask ourselves regularly if we are giving her enough quality of live. If we are doing the right thing by continuing treatment. We are living in constant insecurity over her and thus our future. A prognoses is not available, isn’t there? We are also concerned about the effects for us and the other children as well. Sometimes we wonder if we will be able to keep all of this up. 

Tips and ideas In what follows we are trying to give some ideas and tips from our own experience that can be useful for parents about to let their child participate in a new trial for Pompe´s disease. We want to emphasize that each case is unique and that decisions need to make based on the personal situation and in consultation with the treating physician. 

1. It is your choice to have your child treated or not. There is no such thing as the right choice. You have to decide on what you feel right with. Nobody can take your place! 

2. Not participating means a short severe pain, but also certainty. 

3. Participating means uncertainty no matter how you look at it, for years in the future. There is little known about: - The effect of the therapy - The optimal doses - The consequences in the long term - And more You need to be well informed by an "informed consent" form and this needs to be discussed with the treating physician. 

4. The effect of the therapy depends strongly on how far the disease has progressed and when you start it. The earlier the better. A few weeks difference can make a big difference in the results. 

5. The effect of the therapy is also strongly dependent on the doses that are given. Inform yourself beforehand with which doses is started, what the maximum doses is they CAN give and when it will be decided to adjust the doses. At the moment it has not been determined what the optimal doses is. 

6. It is and will be for the moment an experiment, with hopeful expectations. It is not unthinkable that your child will become dependant more and more on medical support even respiratory support. Decide BEFOREHAND how far you want to go. 

7. Apart from all this participation has large consequences for your social and family live. - It may mean you have to travel a lot, depending on where treatment takes place - Your relations with friends are tested, stay yourself. Sometimes it is difficult for other to understand your situation. It is unique. - Also your relationship with your partner will become strained. - If you have other children, do not forget to give them your attention. We have found it very useful to keep them informed of important decisions, no matter how much if would influence their lives. We try to keep quality time available for them. 

8. Try not to overdo it. An exhausting time is lying ahead. Take time to relax, both physically and mentally. 

9. Try to talk to people you can trust. Be prepared for the most different reactions. You will find that you suddenly do not hear from people close to you. On the other hand you will probably get support, help and understanding from people you would not have expected it from. 

10. Ask for professional help on time, for yourself and your children. Nobody is prepared for a situation like this. 

11. Finally: participation should not cause financial surprises. Inform yourself on costs that you will have to pay. What these will be in the long term is uncertain. 

12. Strongly emphasize that you as a parent are your child's advocate. Although everyone involved with their care has their best interest at heart, your child and your family are the people that must live with the decisions that are made, and you are your child's voice at the table. 

13. Keep a journal/notebook to detail the physicians, tests, procedures, contact information. You will be inundated with information and this provides one resource as well as a historical record of what occurs 

14. Don't wait for the enzyme to start working to enjoy your child. Live and cherish them you as they are today?.and celebrate even the smallest of victories! 

Word explanation 

Trachea canule is a plastic tube that is put in the airway operatively and through which air is blown in the lunges by a ventilator. 

Porta-cath a metal box operatively place under the skin, usually shoulder height, through which medication is given. The box is injected each time with a needle. 

Gastro-stomie is an opening in the stomach wall through which a small plastic tube directly pumps food into the stomach. 

Scoliosis is a deformation of the spine in an S shape. 

Contracture: permanent deformation of a joint caused by not using muscles.
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Our son BartJan was 6 weeks old (born 14-10-1998) when we heard the diagnoses ''Pompe´s disease''. The doctor didn’t trust some signs BartJan was showing and did some tests to find out what was wrong. Our world collapsed when the seriousness of this disease sank in with us. We had not noticed anything about him ourselves; he was breastfed, growing well and was a sweet baby. 

A few weeks later we met dr. van der Ploeg in Rotterdam, who told us of the trial she wanted to start. We had so many questions no one could answer, because patients had never used the new drug and so much was not yet researched. A lot of unbroken ground!

In January of 1999 the phone call came. BartJan could participate in the trial. We were relieved that it would finally start and we no longer had to wait, but at the same time very scared for what was to come. Afraid BartJan would be in pain or would be allergic or maybe sick every week or nauseous. The first 6 weeks went well, so well that the 7th infusion could be given on the ward. Then it went very wrong. BartJan had a reaction to the drug. He became beet red and his saturation declined enormously, a moment in which we thought we might loose him. We were terrified. The infusion was stopped and BartJan went to the Intensive Care where he recovered reasonably quickly. After a few months dr. van der Ploeg had the allergic reactions under control and since then he endures the infusions excellently. In October 1999 BartJan celebrated his first birthday. He could roll over, sit up and even stand up! His first birthday was celebrated extensively!

In December, BartJan was 14 months old; we heard that he is very hard of hearing. Most likely a result of Pompe´s disease. Another big disappointment and big worry. What little confidence we had in the future evaporated. In March 2000 BartJan received hearing aids. The adjustment went fine. At 15 months we had a milestone BartJan could walk.

Meanwhile BartJan is a happy 4-year-old toddler. He was in the toddler group for hard of hearing children and now is in a school for physically disabled children. He is physically not as strong as healthy children but he manages okay. He is fine with the weekly visits to Rotterdam (as long as there is no taking of blood involved).

Now that the transition to the new CHO product is eminent we are afraid again for what the future will bring for our son. He has fought so hard and achieved so much and has so much to loose. It is wait and see all over again.

The first year was heavy, very heavy. If nothing would had been done our son would have died. The development of the drug took 30 years this would be the first test (BartJan was literally a guinea pig). He was the first human being to receive the drug. Our feeling was only fear and hope. Very important to us was good support by the Pompe Team, but even they could not answer all our many questions. Not participating was not an option for us. The treatment in itself is not uncomfortable or very painful (with the exception of the pricking of the porta-cath). BartJan has his 3rd porta-cath at the moment. He has adjustments in his shoes (he has orthopedic shoes), but still falls many times a day. Walking has not improved the last 2 years but it is not getting worse either.

The unexpected hurdles like the threatening bankruptcy of Pharming and the smaller dosage Genzyme prescribes brings us uncertainty and fear again. The last 2 years there are always uncertainties that are answered late or not at all. The transition to the CHO medicine in April worries us because already transferred children have lost their stable line and have turned in (lost) functions. Our family experiences the enormous psychological tension that comes with the fact that we have a son with Pompe disease and the thin line he is walking. We also met other parents while BartJan was on the Intensive Care Unit when he was very ill. Beforehand we didn’t realize what an impact the ICU had on us. We saw children with other diseases dying and parents with grief. These are experiences we never had before in the world outside the hospital. Now we suddenly were part of it. This certainly was also very difficult to cope with.

The treatment has become part of our lives. You get up with it and go to bed with it.

Fear for the future will remain because we are the first in this process.

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