Welcome to Our Community

LAL SOLACE (Support Organization for Lysosomal Acid Lipase Deficiency - Advocacy, Care and Expertise) was created to bring LAL Deficiency patients and families together to share experiences, knowledge and compassion. 

Meet our Moderator

Brett Billmeyer

I have been diagnosed with LAL Deficiency in 2009.  I have been participating in the Sebelipase Alfa clinical trial since 2011. I am always willing to share my experience with LAL Deficiency and the clinical trial.  Do not hesitate to contact me with questions.  

Never Give Up!  

Meet our Medical Advisor

Dr. Porto

Dr. Anthony Porto is a pediatric gastro-enterologist and hepatologist at Yale University. Feel free to ask him questions regarding LAL Deficiency: anthony.porto@yale.edu

Latest Activity

Kimihiro Kasamo is now a member of LAL Solace Patient Community
Jul 15
Rebecca Trendy replied to Lisa Diaz's discussion Searching for information
"That's awesome! Will you be heading to a cancer center or having home infusions? We travel to a center, and the nurses have been absolutely wonderful. We pack a bag of snacks and all their electronics. We even do a family board game, and it can…"
Jul 10
Lisa Diaz replied to Lisa Diaz's discussion Searching for information
"Thank you! We officially start treatment on the 18th of July."
Jul 9
Rebecca Trendy replied to Lisa Diaz's discussion Searching for information
"When you chose to do the ports, that is up to you. It is a ton easier. We waited due to the older two boys being in competitive swim. They didn't want to sit out. We did it toward the end of the school that way they have plenty of time to…"
Jul 4

Blog Posts

Rare Disease Day...Getting the Word Out!

Posted by Mary Pruitt on February 23, 2012 at 12:41pm 0 Comments

Next week, on February 29 it will be Rare Disease Day! A day to recognize those of us who have been touched by a rare disease. And with LAL Deficiency, we certainly quality for a rare disease! Our Board will be traveling to Washington D.C. for Rare Disease Day events. There will be a day for patient groups at the National Institute of Health and a day at the FDA to discuss what has been going on in terms of research and treatments for rare diseases. I just wanted to share some facts about…

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WORLD Symposium 2012

Posted by Mary Pruitt on February 23, 2012 at 12:00pm 0 Comments

Two weeks ago, Stephanie Dykes, Dakota's mom and our Board's secretary, and I travelled to San Diego for the WORLD Symposium. This was a conference dedicated to Lysosomal Diseases, such as Wolman's Disease and CESD. It was a gathering of medical professionals, scientists and patient advocacy organizations, such as LAL Solace. Stephanie and I were able to meet so many wonderful people who are working to raise awareness and treat these diseases. We listened to speakers discussing the LAL…

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New to LAL Solace

Posted by Shawn Agnew on August 19, 2011 at 5:17pm 3 Comments

All,

We are the parents of a CESD patient. Our oldest daughter, Maureen, was diagnosed with CESD when she was 5 years old. She is now 14 and we are glad to hear about information being shared on this website. We knew about the disease and it's complications from our daughters specialist at Childrens Hospital in Philadelphia but now can share with others in a similar situation. We also have 3 other daughters that are unaffected by the disease (they don't have it nor do they have the…

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my son

Posted by jessica nelson on August 9, 2011 at 5:00pm 2 Comments

im jessica  i lost my son in 2009 to wolmans at 4months and 20 days.. we didnt fine out he was sick till he was 2months it suck to lose a baby at 18 i didnt want that to help to me or my family is all i had no baby daddy, when my son got worse i didnt know what to do i was always in the hospital wit me till the day he passed i held him in my arms he passed in them till this day i still see him dieing in my arms..
 

Help Scientists Learn More About LAL-D by Donating Samples to the Coriell NIGMS Human Genetic Cell Repository



The Coriell Repository is a non-profit organization located in Camden, New Jersey that collects samples from people with genetic conditions to make them available for scientific research.

How%20to%20Donate%20Samples%20for%20Research.pdf

Banking%20For%20the%20Future.pdf

For More Information Contact-

Tara J Schmidlen, MS LCGC
Genomic Education Coordinator | Genomic Risk Reporting, CPMC

Genetic Counselor | NIGMS Repository

Coriell Institute for Medical Research
403 Haddon Avenue, Camden, NJ 08103
856-757-4822 | tschmidlen@coriell.org

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Latest News

HOT OFF OF THE PRESS!!!

GREAT NEWS FOR THOSE AFFECTED WITH LAL DEFICIENCY

Kanuma approved as first treatment for patients with LAL deficiency

Published on December 8, 2015 at 11:07 AM · 

Patients with LAL deficiency (also known as Wolman disease and cholesteryl ester storage disease [CESD]) have no or little LAL enzyme activity. This results in a build-up of fats within the cells of various tissues that can lead to liver and cardiovascular disease and other complications. Wolman disease often presents during infancy (around 2 to 4 months of age) and is a rapidly progressive disease. Patients with Wolman disease rarely survive beyond the first year of life. CESD is a milder, later-onset form of LAL deficiency and presents in early childhood or later. Life expectancy of patients with CESD depends on the severity of the disease and associated complications. Wolman disease affects one to two infants per million births, and CESD affects 25 individuals per million births.

Today's action involved approvals from two FDA centers. The Center for Veterinary Medicine (CVM) approved an application for a recombinant DNA (rDNA) construct in chickens that are genetically engineered (GE) to produce a recombinant form of human lysosomal acid lipase (rhLAL) protein in their egg whites. The FDA regulates GE animals under the new animal drug provisions of the Federal Food, Drug, and Cosmetic Act, because an rDNA construct introduced into an animal to change its structure or function meets the definition of a drug. The Center for Drug Evaluation and Research (CDER) approved the human therapeutic biologic (Kanuma), which is purified from those egg whites, based on its safety and efficacy in humans with LAL deficiency.

"LAL deficiency is a rare inherited genetic disorder that can lead to serious and life-threatening organ damage, especially when onset begins in infancy," said CDER Director Janet Woodcock, M.D. "Using this technology, these patients for the first time ever have access to a treatment that may improve their lives and chances of survival."

The new therapy, Kanuma, provides an rhLAL protein that functions in place of the missing, partially active or inactive LAL protein in the patient. Kanuma is produced by GE chickens containing an rDNA construct responsible for producing rhLAL protein in their egg whites. These egg whites are refined to extract the rhLAL protein that is eventually used to produce Kanuma and treat patients with LAL deficiency. The GE chickens are used only for producing the drug substance, and neither the chicken nor the eggs are allowed in the food supply.

Kanuma is approved for use in patients with LAL deficiency. Treatment is provided via intravenous infusion once weekly in patients with rapidly progressive LAL deficiency presenting in the first six months of life, and once every other week in all other patients.

CDER evaluated the safety and efficacy of Kanuma in an open-label, historically controlled trial in nine infants with rapidly progressive Wolman disease and in a double-blind, placebo-controlled trial in 66 pediatric and adult patients with CESD. In the trial in infants with Wolman disease, six of nine infants (67 percent) treated with Kanuma were alive at 12 months of age, whereas none of the 21 infants in the historical control group survived. In the trial in CESD patients, there was a statistically significant improvement in LDL-cholesterol levels and other disease-related parameters in those treated with Kanuma versus placebo after 20 weeks of treatment.

The most common side effects observed in patients treated with Kanuma are diarrhea, vomiting, fever, rhinitis, anemia, cough, headache, constipation, and nausea.

In its review of the GE chicken application, CVM assessed the safety of the rDNA construct, including the safety of the rDNA construct to the animals, as well as a full review of the construct and its stability in the genome of the chicken over several generations. No adverse outcomes were noted in the chickens. As required by the National Environmental Policy Act and its implementing regulations, CVM evaluated the potential environmental impacts of approval of the sponsor's GE chickens and determined that the approval does not cause any significant impact on the environment, because the chickens are raised in highly secure indoor facilities.

"We reviewed all of the data to ensure that the hens do produce rhLAL in their egg whites, without suffering any adverse health effects from the introduced rDNA construct. The company has taken rigorous steps to ensure that neither the chickens nor the eggs will enter the food supply, and we have confirmed their containment systems by inspecting the manufacturing facilities," said CVM Director Bernadette Dunham, D.V.M., Ph.D.

The FDA granted Kanuma orphan drug designation because it treats a rare disease affecting fewer than 200,000 patients in the United States. Orphan drug designation provides financial incentives for rare disease drug development such as clinical trial tax credits, user fee waivers, and eligibility for market exclusivity to promote rare disease drug development. Kanuma was also granted breakthrough therapy designation as it is the first and only treatment available for Wolman disease, the very severe infant form of the disease. The breakthrough therapy designation program encourages the FDA to work collaboratively with sponsors, by providing timely advice and interactive communications, to help expedite the development and review of important new drugs for serious or life-threatening conditions. The Kanuma application was also granted a priority review, which is granted to drug applications that show a significant improvement in safety or effectiveness in the treatment of a serious condition. The manufacturer of Kanuma was granted a rare pediatric disease priority review voucher –– a provision intended to encourage development of new drugs and biologics for the prevention and treatment of rare pediatric diseases.

LAL D PATIENTS AND CAREGIVERS IN THE U.S. AND GERMANY: HERE IS     YOUR CHANCE TO HELP

People With LAL D or Their Parents or Caregivers (Lysosomal Acid Lipase Deficiency)

DESIRED FOR DISCUSSION ON EXPERIENCES WITH DIAGNOSIS, TREATMENT AND EVERYDAY LIVING WITH LAL D.

Qualified candidates will receive $150 USD for a 60-minute telephone interview.

Magnolia Innovation, an independent market research company, is seeking parents or caregivers of patients who meet the following criteria to participate in telephone interviews to share their personal experiences related to diagnosis, treatment and everyday living with LAL D. Participation will help organizations that create treatments or support services for patients to better understand this rare condition.

PATIENTS AND/OR PARENTS AND CAREGIVERS

We would like to hear from you if:

• You live in the US or Germany

• Patients: You are over 18 years old

• Caregivers or Parents: Your child is under 18 years old

• You or your child are currently or have ever been diagnosed in the past with LAL D

• You feel comfortable sharing you or your child’s story in a one hour long telephone interview, scheduled at your convenience.

You will receive $150 USD for your time and participation. All interviews will be 60 minutes long and will be completed beginning October 16 via telephone. Please know that we take your privacy seriously, and your name or other contact information would be held entirely confidential. In addition, we will not attempt to sell you anything or influence your behavior in any way. This research is in full compliance with the Health Information Portability and Accountability Act (HIPAA) and related guidelines set forth by the Council of American Survey Research Organizations (CASRO). If you are interested, please contact Shannon Doyle: sdoyle@magnoliainnovation.com

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PATIENT SURVEY FOR LAL-D PATIENTS, CAREGIVERS AND CARERS FROM EUROPE Information was sent out to our members this past week that the European Commission (EC) has approved Kanuma™ (sebelipase alfa) for long-term enzyme replacement therapy (ERT) in patients of all ages with lysosomal acid lipase deficiency (LAL-D). I have attached a link to a survey that I am hoping that all of our European members who are LAL-D patients, LAL-D caregivers, or LAL-D carers can complete by September 18th. The survey is confidential and will be de-identified. To provide you a brief background, patient quality of life data is required by the United Kingdom’s National Institute for Health and Care Excellence (NICE) and is necessary to inform decision-makers as to whether the therapy should be made available for patients through the National Health Services (NHS) in England. This is extremely important for the benefit of European patients who have been affected by LAL Deficiency. Thank you in advance. Click on "EUROPEAN RESIDENTS: LAL-D PATIENT QUALITY OF LIFE SURVEY" below to complete the survey.

EUROPEAN RESIDENTS: LAL-D PATIENT QUALITY OF LIFE SURVEY

>Alexion completed the acquisition of Synageva Biopharma Corp, which will not effect the clinical trials, except that they are now sponsored by Alexion. SBC-102, enzyme replacement therapy for lysosomal acid lipase deficiency (LAL-D), now called Kanuma, was designated as a breakthrough therapy by the Food and Drug Administration. Kanuma is also under review by the EMA and Japan's regulatory body, the Ministry of Health Labour and Welfare.

A BIG THANK YOU TO BOSTON CHILDREN'S HOSPITAL FOR DOING THEIR PART IN RAISING AWARENESS ABOUT LAL D IN THE MEDICAL COMMUNITY

Maureen McCarthy from Boston Children’s Hospital (BCH) has written an article which does an excellent job describing LAL D.  Dr. Maureen Jonas (pediatric GI) and Dr. Edward Neilan (Geneticist), who are both from BCH, have diagnosed three children with LAL Deficiency.  Dr. Neilan is BCH's principal investigator for the LAL Deficiency clinical trial.  This article was sent to over 600 pediatric gastroenterologists nationwide as part of a newsletter produced biannually from BCH called “Vector”.  It is also posted on the BCH website.

Boston Children's Hospital also has a blog on their website called Thriving.  In one of their latest blogs, they wrote about sisters, Lauren and Maureen Walsh who were diagnosed at BCH with LAL D.  It talks about LAL D, the girls path to diagnosis, how LAL D has affected their lives and their participation in the LAL D clinical trial.  

Thanks to the team at Boston Children's Hospital for their role in educating the medical community about LAL D and the effects that it has on those living with this genetic disorder.  Links to the articles are listed below.  

BCH LAL D Education

Lauren and Maureen Walsh - Sisters Diagnosed with LAL D

LAL D Study with $150 Honorarium

Over the past month, LAL Solace has received numerous requests to participate in surveys and research studies. In order to look out for the best interest of our patient community, the LAL Solace board members have requested additional information from those organizations requesting assistance locating patients to complete their study. I am honored to announce that we have received the requested information from MarketVision Research. We have teamed up with MarketVision Research to improve medical products and services for those of us who are affected by LAL D.

Patients and caregivers we have an opportunity to voice our opinions to improve medical products and services while earning a cash reward. We are currently conducting a Market Research study with patients and caregivers of LAL D with regard to innovations in current treatment. In appreciation, there is an honoraria of $150 for those who qualify for and participate in this Market Research study. If you are interested in sharing your thoughts and experiences, please do so by clicking on the link below to find out more. https://www.research.net/r/MVLALD

EXPANDED ACCESS PROTOCOL IN THE US FOR PATIENTS WITH LAL D

I have exciting news for those of you who have been affected by LAL Deficiency, but were not able to participate in one of the previous clinical trials for for LAL Deficiency. They have activated an expanded access protocol in the US for patients with LAL Deficiency. This is for patients ≥ 8 months of age* that have a confirmed diagnosis of LAL Deficiency and that could not qualify for an active clinical trial. You can find additional information at the following link. https://clinicaltrials.gov/show/NCT02376751

* The reason why the age starts at 8 months is that there is a currently active and enrolling clinical trial for infants with LAL Deficiency. If you have any additional questions, please do not hesitate to ask.

ROBERT J. DESNICK, M.D., Ph.D. JOINS THE LAL SOLACE BOARD:


It is my pleasure to introduce a pioneer in the study of lysosomal storage diseases like lysosomal acid lipase deficiency (cholesterol ester storage disease and Wolman's Disease).  Dr. Desnick will be a medical consultant to LAL Solace and Scientific Advisor.  I have had the privilege of meeting Dr. Desnick while being treated at Mount Sinai School of Medicine.  He is a great doctor and friend.  A little bit of his impressive background is listed in the following paragraph.  

Dr. Robert J. Desnick, M.D., Ph.D. serves as Scientific & Corporate Advisor at Synageva BioPharma Corp. Dr. Desnick serves as Dean for Genetics and Genomic Medicine at Mount Sinai Medical Center, Inc. He is a key clinical thought leader in lysosomal storage diseases. He is a Professor and Chairman of Department of Human Genetics, and Chief of Medical and Molecular Genetics, Department of Pediatrics, MountSinai School of Medicine. Dr. Desnick Founded Amicus Therapeutics, Inc., and served as its Chairman of the Scientific Advisory Board. Dr. Desnick is an Editorial Board Member of several journals including American Journal of Human Genetics, Journal of Clinical Investigation, American Journal of Medical Genetics, Enzyme, Journal of Inherited Metabolic Diseases, Molecular Genetics and Metabolism, Journal of Human Genetics and Human Genome. He is a Member of numerous scientific societies, including the American Society for Clinical Investigation, and the American Association of Physicians. He served as the President of the Society for Inherited Metabolic Diseases and for 5th International Congress on Inborn Errors of Metabolism. He has served on NIH Study Sections. He is a Member of the NIH National Advisory Council for the National Center for Research Resources. He Founded the Association of Professors of Human and Medical Genetics and served as its President. He also serves as a Director of the Center for Jewish Genetic Diseases and the Institute for Genomic Sciences at Mount Sinai. Dr. Desnick is a Professor and Chairman for Dept of Human Genetics, Mount Sinai School of Medicine. He served as a Director of the Administrative Board of the Council of Academic Societies of the American Association of Medical Colleges. He has published over 480 research publications and nine edited books. He is a Fellow of the American Academy for the Advancement of Science, and a member of the Institute of Medicine of the National Academy of Sciences. He was the recipient of various fellowships and awards, including the Ross Award in Pediatric Research, the E. Mead Johnson Award for Research in Pediatrics of the American Academy of Pediatrics, an NIH Research Career Development Award, an NIH MERIT Award, and the Mount Sinai Outstanding Faculty Award. Dr. Desnick received his B.A., Ph.D., and M.D. degrees from the University of Minnesota.

Thank you Dr. Desnick.  LAL Solace is lucky to have you as part of our board.  I look forward to working with you more often in the future.  

Subject: LAL D Study Opportunity with Honorarium (60 minutes over telephone) LAL Solace is partnering with Trinity Partners, a global life sciences consulting firm (www.trinitypartners.com), to provide an opportunity for LAL Solace community members to participate in a study for LAL D patients and their caregivers. The aim of this research is to better understand the LAL D patient experience, from symptom onset through to diagnosis, treatment, and on-going management, to elucidate the unmet needs for this disease and to improve treatment of LAL D. All information discussed will be kept confidential and no identifying information will be shared with other parties. The interview will be conducted via telephone and will last 60 minutes. Compensation of $100 will be provided for your time. Study Enrollment Criteria: 1. Patients or caregivers of patients (if patient is under the age of 18) who currently have or have had LAL D (Wolman Disease or Cholesteryl Ester Storage Disease) 2. Patients or caregivers from the US, UK, Italy, Spain, France, Germany, or Belgium If you are interested in participating in this research, and meet the study enrollment criteria, please contact Victor Kang (mailto:vkang@trinitypartners.com) to schedule an interview time. Interviews will be conducted between October 1st and October 30th 2014. Thank you in advance for your consideration, and we are looking forward to hearing from you. Warm regards, Brett

LAL Solace is a non-profit organization who supports those who are affected by Lysosomal Acid Lipase Deficiency. We educate others on the signs, symptoms and important information about what to look for during a diagnosis. Lysosomal Acid Lipase Deficiency is severely under diagnosed. We work with the medical community to help provide the information to help those who would otherwise be misdiagnosed with elevated cholesterol only. LAL Solace does not have any paid board members. All donations go directly to helping those affected by LAL Deficiency and for education. Please consider donating. No amount is too small. Payments accepted through paypal.

PayPal Acceptance Mark



Lysosomal Disease Network WORLD Symposium

Thanks to those of you who have requested and sold the LAL Solace bracelets. I have placed an order for additional bracelets. If you are willing to attempt to sell some of them let me know and I will get them in the mail to you. The minimum requested donation per bracelet is $5.00. Some have been getting more for them. These bracelets are an excellent opportunity to raise awareness about LAL Deficiency.

Lysosomal Acid Lipase (LAL) Deficiency Registry There is currently a study that is recruiting participants who are affected with LAL Deficiency which is sponsored by Synageva BioPharma Corp. The information that is collected from those of us that are affected with LAL Deficiency will help gather important information that will benefit all of us. Participation in the study involves a couple of quick phone calls. The small amount of time that you spend on the phone will help tremendously. Please consider participating in this trial. Additional information can be found at the ClinicalTrials.gov website. Identifier: NCT01633489 LAL Deficiency Clinical Trial Website You can also contact me if you have any questions about the trial. I am a participant which only took a few minutes of my time. This is an observational, multi-center, international disease registry designed to collect longitudinal data and create a knowledge base that will be utilized to improve the care and treatment of patients with LAL Deficiency and carriers of the disorder. Participation in the Registry by both physicians and patients is voluntary. Prospective and retrospective data will be collected; data will be de-identified. Demographic, socioeconomic, clinical, and treatment data, or those deemed relevant to the management of eligible patients will be submitted to the Registry based on routine clinical practice, as determined by the patient's physician. The objective of the LAL Deficiency Registry is to use uniform methodology to collect longitudinal data over an extended period to provide information to: Further understand the disease, its progression and any associated complications. Evaluate the long-term effectiveness of therapeutic and supportive interventions. Improve care through evidence-based patient management. Understand the relationship between LAL Deficiency and access to care. Condition Lysosomal Acid Lipase Deficiency Cholesterol Ester Storage Disease Wolman Disease Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 Acid Lipase Deficiency LIPA Deficiency Official Title: An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency (Wolman Disease and Cholesteryl Ester Storage Disease) and Carriers of the Disorder. Primary Outcome Measures: Understanding of the variability, progression, identification and natural history of LAL Deficiency. Carriers are considered those with evidence of at least one mutation in the LIPA gene, or those that have an affected parent or child diagnosed with LAL Deficiency. Contact: Synageva help@laldeficiencyregistry.com

TODAY IS RARE DISEASE DAY

Rare Disease Day is an annual, awareness-raising event co-ordinated by EURORDIS at the international level and by National Alliances and Patient Organisations at the national level.

The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

The campaign targets primarily the general public but it is also designed for patients and patient representatives, as well as politicians, public authorities, policy-makers, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, more than 1000 events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage.

The political momentum resulting from the Day has also served for advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries.

Even though the campaign started as a European event, it has progressively become a world event, with over 70 countries participating in 2013. We hope many more will join in 2014. Our objective is for the WHO to recognise the last day of February as the official Rare Disease Day and to raise increasing awareness for Rare Diseases worldwide.

The important part of rare disease day is to increase awarenss for rare diseases worldwide. I would like to offer our members one of our LAL Solace Bracelets. If you are interested in obtaining one or two, leave me an email with your address. If you are interested in selling some to raise money for LAL Solace, let me know and I will send you how many you think that you can sell. Minimum donation for each bracelet is $5.00.

 

 

I would like to welcome all of our new members to LAL Solace. If the weather in your area is anything like it is in Minnesota, I feel for you. I woke up to a balmy -19 degrees this morning. I am looking forward to spring.

 

If you have any questions that I may be able to answer, send them my way. If I am not able to answer them for you, we have plenty of resources who more than likely will have the answer. Thank you to everyone who is part of our website, especially those medical professionals who are taking the time to learn more about LAL Deficiency.

LAL Solace continues to grow since our inception a few years ago. We are always looking for members who may have a specialty that is willing to help out. If you or someone you know has a special skill that can help, that would be appreciated. We are looking for those who have experience in grant writing, fundraising, accounting, social media, etc. Our goal is to continue to grow so we can help advocate for those who are affected by LAL Deficiency. If you have the time and are able to help, please let me know.

Please check out our LAL Solace Facebook Page. Those of you with Facebook accounts, I invite you to join our page.

 

LAL Solace Facebook Page

Click on the above to be linked to our page.

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LAL Solace is a non-profit organization who supports those who are affected by Lysosomal Acid Lipase Deficiency. We educate others on the signs, symptoms and important information about what to look for during a diagnosis. Lysosomal Acid Lipase Deficiency is severely under diagnosed. We work with the medical community to help provide the information to help those who would otherwise be misdiagnosed with elevated cholesterol only. LAL Solace does not have any paid board members. All donations go directly to helping those affected by LAL Deficiency and for education. Please consider donating. No amount is too small. Payments accepted through paypal.

PayPal Acceptance Mark



Lysosomal Disease Network WORLD Symposium

LAL Solace was represented at the LDN World Symposium at the Manchester Grand Hyatt in San Diego, CA on February 10-13.  

This symposium is designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in learning more about the latest  discoveries in the management and treatment of lysosomal diseases, as well as the clinical investigation of these advances. 

 

At the conference, data was presented about Sebelipase alfa which continues to improve disease abnormalities at 90 weeks from the ongoing Phase 1/2 trial in adults with LAL Deficiency.

Chester B. Whitley, PhD, MD provided an update from six adult patients treated with sebelipase alfa at 90 weeks. Patients continued to demonstrate sustained reductions in the biomarkers of liver damage (both ALT and AST), frequently into the normal range, from the pre-treatment baseline. In addition, sebelipase alfa maintained improvements in dyslipidemia associated with LAL Deficiency, with decreases in LDL and triglycerides and increases in HDL from the pre-treatment baseline to week 90 of the extension study.   

LAL Solace was able to network with several other patient advocate groups which will help us educate others and identify new patients. 

 

Would any patients or families be willing to share their stories with this wonderful organization? We are going to be teaming up with RareConnect in 2014!

https://www.rareconnect.org/en
We would love to have YOUR stories to share on our page that will be on this site!

A GREAT New Resource for all our LAL Deficiency questions! Check it out!

http://www.laldeficiencysource.com/

 

Gage's article in the Washington Post!

 

***A NEW CLINICAL TRIAL FOR LATE ONSET LAL DEFICIENCY***

Synageva BioPharma Corp. has begun the ARISE Phase 3 clinical trial for late onset Lysosomal Acid Lipase (LAL) Deficiency/Cholesteryl Ester Storage Disease (CESD).

The ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) clinical trial will evaluate the safety and efficacy of sebelipase alfa (SBC-102).  Patients, age 4 and over, diagnosed with LAL Deficiency, may be eligible for enrollment.

Additional information on this trial and a list of participating trial sites may be found at http://www.clinicaltrials.gov/ct2/show/NCT01757184 or by contacting Synageva directly at clinicaltrials@synageva.com. 

This is OUR Episode! I was able to go on Lifetime and talk about LAL Deficiency! Take a few minutes to watch!

Click here to watch!

You NOW can see LALSolace in YOUR language! Check out the bottom of the page for our new translation service!

 

**New Clinical Trial Info for Wolman's Disease**

Please check out the link above to find out more about the CLINICAL TRIAL for early onset Lysosomal Acid Lipase Deficiency...also known as Wolman's Disease!!!!

 

*Additional information about clinical trials can be found through the LAL Solace Clinical Trials Resource Center

http://www.centerwatch.com/ctrc/LalSolaceOrg/

 

New INFO Posted on Getting Tested for LAL Deficiency! Look under the "Clinical Trials" Tab

 

ATTENTION PERSIAN JEWISH COMMUNITY!  If you or someone you know are part of the Persian Jewish Community, we desperately need your help! Please help us by taking part or sharing this survey. It will only take a few minutes and the information gathered is invaluable. Every little bit of information we gather will be used to further advance the research and treatment of Wolman's Disease and Cholesterol Ester Storage Disease. We are counting on you! Please click on this link: Survey Regarding Genetic Issues in Persian Jewish Community

 

 

 

 

 

 

 

 

Forum

Searching for information

Started by Lisa Diaz. Last reply by Rebecca Trendy Jul 10. 9 Replies

Our son (4 yrs) was diagnosed recently with LAL-D after 2 years of searching for answers. We are in Texas and they want to start treatment with Kanuba. Are there any families in TX that are currently undergoing treatments??

News Story

Started by Rebecca Trendy. Last reply by Rebecca Trendy Jun 24. 5 Replies

Our local news did a story on our family, and LAL-D. They did an excellent job explaining the disease. I am very happy with how the story turned out. Feel free to share the story to help get the word out.…Continue

High liver enzimes with treatment

Started by Sara Salinas. Last reply by Sara Salinas May 22. 2 Replies

Hi,My daughter is receiving 18 months of treatment (Kanuma) as a clinical trial 1mg/Kg.At the moment, cholesterol (HDL/LDL) seems are normalized but the liver enzymes (ALT/AST) still are high.Some of you are having this problem?Thanks,SaraContinue

Introducing my family

Started by Rebecca Trendy. Last reply by Sara Salinas Mar 11. 19 Replies

Hello everyone! My boys have been struggling with liver and cholesterol problems for over 9 years now, and it took years of testing to finally get our dignosis this past May. All four of my boys (17, 14, 12, & 10) have LAL D. We started…Continue

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