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Lymphedema Research

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Lymphedema has accurately been called the "orphan" disease as such little research has historically been undertaken to understand both the pathophysiology of the condition and research that could possible lead to a cure.  Despite the fact that funding is still limited compared to other conditions, the pace of research has dramatically quickened in the past few years.

Progress has been made in understand the condition by research into how the lymphatic system ties into other diseases and body systems. The end result thus far has been a tie in that no one would have expected and that the lymphatic system is deeply and intrinsically connected to a profound number of other diseases and plays a major part in a multitude of body processes.

Direct lymphedema research has been focused on understanding how lymphedema might effect the overall health of the patient, how the lymph systems "grows," experimental procedures designed to alleviate the condition, and finally to new genetic treatments that can restore the lymph system to a healthy state.

There is no single "research center."  There are however, a few sites, such as the University of Pittsburgh that stand out.  The focus there has been primary lymphedema and the genetics of lymphedema. Their Lymphedema Family Study seeks to identify the genes responsible

Overseas, research is strong in the United Kingdom under the direction of Dr. Peter Mortimer; and in Australia under the direction of Professor Neil Piller. In continental Europe, much research in corrective surgical procedures such as microsurgery has been done by Drs. Corradine Campisi and Francesco Bocardo in Italy and research is conducted in Poland by Dr. Waldemar Olszewski.  In Lymphedema is slowly beginning to be studied in China, South Korea, however, not much literature has yet been forthcoming.

Listed below are organizations and centers involved in research and a direct link to our page on current clinical trials.

Pat O'Connor

June 11, 2008

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Lymphedema Clinical Trials

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Lymphedema Resarch Centers and organizations

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Lymphatic Research Foundation

http://www.lymphaticresearch.org/

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Lymphatic Research Foundation Patient Registry

http://www.lymphaticresearch.org/main.php?menu=patients&content=patient-reg

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PRIMARY LYMPHEDEMA RESEARCH UPDATE

University of Pittsburg

http://www.pitt.edu/AFShome/g/e/genetics/public/html/lymph/update.htm

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LYMPHEDEMA FAMILY STUDY

University of Pittsburgh

http://www.pitt.edu/AFShome/g/e/genetics/public/html/lymph/noframes.htm

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Hereditary lymphedema and lymphatic development

http://www.umich.edu/~twglab/LD.htm

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Lymphedema-research.org

http://lymphedema-research.org/

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Government Grants/Research Funds

http://grants1.nih.gov/grants/guide/pa-files/PA-04-071.html

Examples of some research topics are listed below to illustrate the objectives of this program announcement. It is not required that all or any of these ideas be included; investigators are encouraged to submit applications that are relevant to the goals of this program announcement. 1. Comparative studies of gene expression in lymphedematous and normal tissues, using techniques such as laser capture microdissection and high density microarrays to identify molecular targets. 

2. Studies on the phenotypic and genotypic differences of lymphatic vascular cells, compared to arterial and venous vascular cells

 3. Elucidation of the process of lymphangiogenesis, including the growth factors, cytokines, and matrix molecules associated with the formation of functional lymphatic vessels. A potential role of trophism to lymph nodes, and the effect of reimplantation of nodal tissue on lymphedema.

 4. Development of a biophysical model(s) for interstitial fluid exchange across the lymphatic wall, and the role of the lymphatic matrix in the development of lymphedema. Characterization of the physical and biological mechanisms in the propulsion of lymph within lymphatic vessels. 

5. The creation of animal models to confirm the identification of putative genes contributing to lymphedema, and the development of animal models to assess new and complementary or alternative treatments. 

6. The development of methods to image and quantitate lymph flow to provide useful endpoints for clinical evaluations.

7. Approaches to explain the asymmetry between more and less affected limbs in an individual with primary lymphedema, when the genetics and environment appear to be uniform. Also, the developmental or hormonal basis for onset that occurs during puberty.

 8. Studies on the developmental biology and developmental genetics of the lymphatic system, i.e., the identification and characterization of genes important in the organization and regulation of the development of the lymphatic system. 

9. Studies on diseases of skin and subcutaneous tissue that result from chronic lymphedema. 

10. New methods to prevent or treat lymphedema or lessen its impact on patients. 

11. Development of biobehavioral markers to measure the relationship between health-related quality of life (HRQOL) and lymphedema, including markers to measure the impact of therapeutic interventions. 

12. A national patient registry and tissue bank. To foster data sharing in addition to presentations and publications, investigators should consider how to make experimental results available to other scientists for data mining, and how to make archived data interoperable with commercially available software.

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Lymphatic Research Foundation

I also urge our members and visitors to support the efforts of the Lymphatic Research Foundation

ABOUT THE FOUNDATION
"Lymphatic diseases, including lymphedema are important health problems which until very recently received far too little attention. Substantial progress is now beginning to be made in awareness and research, holding the promise of finding critical answers that will bring hope and improved quality of life for individuals facing chronic and debilitating conditions of the lymphatic system."
- Robert Smith, PhD, Director, Cancer Screening, American Cancer Society
When successful lawyer Wendy Chaite's daughter was born with systemic lymphatic disease and lymphedema, she searched for medical and scientific answers and treatment. She was shocked and frustrated by the lack of information and knowledge. Wendy knew that without aggressive research into the lymphatic system, there could be no progress in clinical care. Her response to the situation was the formation of the Lymphatic Research Foundation (LRF), an internationally recognized, not-for-profit organization with the goal of promoting significant advances in research to find effective treatments and ultimately a cure.

Science now knows that the lymphatic system impacts virtually every function of the human body in health and illness. Despite this, the lymphatics have been historically neglected in both medical school curricula and research institutions. Inadequate methods to diagnose lymphatic disorders and minimally effective therapies are available, with little or no attention paid to the needs of those afflicted by these diseases.

LRF has enjoyed continuous growth and impressive accomplishments both in this country and internationally. LRF has significantly promoted the field of lymphatic research that promises breakthroughs in therapeutic treatments and cures not only for lymphatic disease, lymphedema, and related disorders, but for a multitude of other diseases.

As a result of LRF's successful collaborations with researchers and its relationship with the National Institutes of Health, the Foundation is recognized as a key player in promoting lymphatic research. LRF supporters can feel great pride and satisfaction to know that their Foundation is featured in a current NIH publication, "From Public Advocacy to Research Priorities". LRF is creating the infrastructure necessary to attract the pharmaceutical and biotech industries.

About the Foundation

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PRIMARY LYMPHEDEMA RESEARCH UPDATE

The Lymphedema Family Study aims to determine precisely how lymphedema is inherited in families. Our hope is that identification of the genes responsible for primary lymphedema will provide a better understanding of its cause, and aid in the development of new and better methods for diagnosing and treating lymphedema. The Lymphedema Family Study is a linkage study. Linkage studies, also called linkage analysis, involve a comparison of genetic material between family members with and without lymphedema. In large families this allows the identification of markers on a chromosome, that are associated with a gene responsible for lymphedema. These markers indicate the chromosomal location of that gene. Further research then allows the identification of the causative gene. So far, two genes have been identified that cause primary lymphedema: VEGFR3 and FOXC2

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VEGFR3

Vascular endothelial growth factor receptor 3 (VEGFR3) was the first lymphedema gene to be identified. VEGFR3, which was formerly known as FLT4, is located on chromosome 8 and is known to be involved in the formation of lymphatic vessels during prenatal development. VEGFR3 causes congenital lymphedema (swelling which is present from birth). To date we have identified lymphedema-causing genetic changes (mutations) in 5 participating families.

Our article entitled "Hereditary Lymphedema: Evidence for Linkage and Genetic Heterogeneity" was published in the December, 1998, issue of the scientific journal, Human Molecular Genetics. Those who wish to view the Human Molecular Genetics abstract may see it online at PubMed. We also wrote a summary for the National Lymphedema Network Newsletter in January, 1999. Another article, entitled "Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema," describes the affect of 4 different mutations in the VEGFR3 gene. It was published in June, 2000 in the scientific journal Nature Genetics. That abstract may also be read online at PubMed. Copies of these articles are available in most medical libraries.

FOXC2

FOXC2 was the second lymphedema gene to be identified. It is responsible for causing the lymphedema-distichiasis syndrome (LD). Individuals with LD have lymphedema of pubertal or adult onset as well as distichiasis, which is the presence of extra eyelashes. These eyelashes may simply appear long and thick, or they may become ingrown or irritate the eye, in which case they are often removed. Less frequently, individuals with LD may be born with a heart defect, cleft palate (opening in the roof of the mouth), or ptosis (droopy eyelids). We have identified changes or mutations in the FOXC2 gene in 16 families participating in the Lymphedema Family Study.

Lymphedema-distichiasis was first localized to chromosome 16 in 1999 by Mangion et al. The abstract, entitled "A gene for lymphedema-distichiasis maps to 16q24.3," is available at PubMed. However, FOXC2 was not identified as the causative gene until 2001 by Fang at al in an article entitled "Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome." This abstract is also available on PubMed. Our paper on FOXC2, entitled "Truncating mutations in FOXC2 cause multiple lymphedema syndromes," was published in Human Molecular Genetics also in the year 2001. The abstract of our publication is available on PubMed as well.

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Not all hereditary lymphedema is caused by VEGFR3 or FOXC2, indicating that there is at least one other gene (probably many more) responsible for hereditary lymphedema. This phenomenon, the existence of more than one gene responsible for the same condition, is called genetic heterogeneity. We are continuing to look for the location of these additional lymphedema genes.

General results regarding the progress of the study will be made available to participants in several ways. Updates will be posted on this website, and articles will be published in the National Lymphedema Network's Newsletter whenever significant new developments have occured. In addition, if you are a participant in this study and a mutation was identified in your family, you will receive a letter with additional information about the discovery, and you will be offered the opportunity to receive your research results if you want them. Your individual research results will only be disclosed to you or if applicable, your legal guardian, unless we are provided with written permission to release those results to another individual.

In most cases specific genetic information is not yet available for individual families or family members. However, as new genes are identified and proven to be responsible for causing lymphedema in specific families, we will continue to contact the participating family members to inform them of this finding and discuss the impact of this information on them and their family. At that time individual genetic information will be offered to those participants who are interested. However, any genetic information provided by this study will be in the form of research results only and should not be used for medical decision-making without confirmation by a laboratory offering clinical or diagnostic testing. Those individuals who receive research results may elect to have confirmatory testing from a certified diagnostic laboratory. This would involve an additional blood sample and possibly the signing of another consent form. We are currently negotiating with a local laboratory to arrange this testing at a reduced rate for study participants.

We would like to remind you that this is a research study, and therefore, we cannot guarantee that any information will be available to individual families or participants. This study does not provide diagnosis or treatment of lymphedema, and is not designed to result in any direct benefit to the participants. However, it is our hope that it will benefit lymphedema patients in the future. In addition, the participation of families and family members is voluntary and confidential. Advances in understanding the underlying cause of lymphedema are critically dependent on the participation of individuals and families in research such as ours, so for those families participating in our study, we would like to thank you once again. Should you have any questions or concerns about this information or the study in general, please don't hesitate to call Kerry Lorenzo at (412) 624-4657 or (800) 263-2152.

Please support the research work being done at the Lymphedema Family Study at the University of Pittsburgh

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RESEARCH INTO THE CAUSES OF LYMPHOEDEMA

For the past 10 years our International Consortium has been working to find the underlying cause of the various types of lymphoedema. Progress was initially slow due to a lack of large families and problems confirming the diagnosis in some cases. Over the past 4 years there have been significant advances in our knowledge, with the finding of 2 genes which cause lymphoedema. In addition our group at St. George's and others around the world have found a number of changes (mutations) within these genes which are believed to be responsible for the development of lymphoedema.

The first gene, responsible for congenital lymphoedema, was discovered in 1998 (Ferrell et al 1998). The gene, called vascular endothelial growth factor receptor 3 (VEGFR3), appears to be responsible for correct development of the lymph system in the fetus.

Alison Evans, PhD student, Cardiological Sciences Department, St. George's Hospital, has now found 4 different mutations in this gene in families with congenital onset lymphoedema.

Lymphoedema-distichiasis syndrome, in which patients with pubertal onset lymphoedema have an extra row of eyelashes which rub on the cornea, is now known to be caused by a gene on chromosome 16 (Fang et al 2000). This gene, called FOXC2, is active during development of the fetus controlling the function of other genes. This controlling effect on other genes probably explains the other findings sometimes associated with this condition such as cleft palate, varicose veins and ptosis. Dr. Rachel Bell, Molecular Genetics Department, St. George's Hospital, has now found mutations in more than 30 different families with this rare condition.

We are continuing our search for a gene for pubertal onset lymphoedema (Meige's disease), the most common form of the condition and are hopeful of a breakthrough in the near future.

Once the gene for a condition is found in a family it offers the opportunity for early diagnosis and the prospect of developing new treatments using our new knowledge of the underlying cause. Tentative steps towards the development of gene therapy for lymphoedema have already been taken (Karkkainen et al 2001).

HOW YOU CAN HELP

We are always eager to include more families in our studies. The more families we are able to include the better our chance of locating the responsible genes. Ideally there should be 2 or more living, affected members in the family but in some cases we will include isolated cases for later mutation screening when the genes are described.

If you wish to take part please contact us:

St George's Hospital
Department of Cardiological Sciences
Cranmer Terrace
London
SW17 0RE

Phone    020 8725 5248/2591
Fax        020 8725 2653
e-mail     g.brice@sghms.ac.uk

CONSORTIUM MEMBERS

Dr. Anne H. Child

Clinical Geneticist

Dr. Sahar Mansour

Clinical Geneticist

Professor Mansoor Sarfarazi (USA)

Molecular Geneticist

Professor Steve Jeffery

Molecular Geneticist

Dr. Rachel Bell

Molecular Geneticist

Professor Peter Mortimer

Dermatologist

Professor Kevin Burnand

Vascular Surgeon

Mr. Glen Brice

C.N.S. Genetics

g.brice@sghms.ac.uk

Mr. Richard Collin

Ophthalmologist

Dr. Anthony Stanton

Dr. Russell Mellor

Pip Sharpe

http://www.lymphoedema.org/lsn/lsn060.htm#BCRL

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Join us as we work for lymphedema patients everywhere:

Advocates for Lymphedema

Dedicated to be an advocacy group for lymphedema patients. Working towards education, legal reform, changing insurance practices, promoting research, reaching for a cure.

http://health.groups.yahoo.com/group/AdvocatesforLymphedema/

Subscribe: AdvocatesforLymphedema-subscribe@yahoogroups.com

Pat O'Connor

Lymphedema People / Advocates for Lymphedema

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For information about Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema\

For Information about Lymphedema Complications

http://www.lymphedemapeople.com/wiki/doku.php?id=complications_of_lymphedema

For Lymphedema Personal Stories

http://www.lymphedemapeople.com/phpBB3/viewforum.php?f=3

For information about How to Treat a Lymphedema Wound

http://www.lymphedemapeople.com/wiki/doku.php?id=how_to_treat_a_lymphedema_wound

For information about Lymphedema Treatment 

http://www.lymphedemapeople.com/wiki/doku.php?id=treatment

For information about Exercises for Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=exercises_for_lymphedema

For information on Infections Associated with Lymphedema

http://www.lymphedemapeople.com/wiki/doku.php?id=infections_associated_with_lymphedema

For information on Lymphedema in Children

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_in_children

Lymphedema Glossary

http://www.lymphedemapeople.com/wiki/doku.php?id=glossary:listing

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Lymphedema People - Support Groups

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Children with Lymphedema

The time has come for families, parents, caregivers to have a support group of their own. Support group for parents, families and caregivers of chilren with lymphedema. Sharing information on coping, diagnosis, treatment and prognosis. Sponsored by Lymphedema People.

http://health.groups.yahoo.com/group/childrenwithlymphedema/

Subscribe: childrenwithlymphedema-subscribe@yahoogroups.com

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Lipedema Lipodema Lipoedema

No matter how you spell it, this is another very little understood and totally frustrating conditions out there. This will be a support group for those suffering with lipedema/lipodema. A place for information, sharing experiences, exploring treatment options and coping.

Come join, be a part of the family!

http://health.groups.yahoo.com/group/lipedema_lipodema_lipoedema/?yguid=209645515

Subscribe: lipedema_lipodema_lipoedema-subscribe@yahoogroups.com

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MEN WITH LYMPHEDEMA

If you are a man with lymphedema; a man with a loved one with lymphedema who you are trying to help and understand come join us and discover what it is to be the master instead of the sufferer of lymphedema.

http://health.groups.yahoo.com/group/menwithlymphedema/

Subscribe: menwithlymphedema-subscribe@yahoogroups.com

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All About Lymphangiectasia

Support group for parents, patients, children who suffer from all forms of lymphangiectasia. This condition is caused by dilation of the lymphatics. It can affect the intestinal tract, lungs and other critical body areas.

http://health.groups.yahoo.com/group/allaboutlymphangiectasia/

Subscribe: allaboutlymphangiectasia-subscribe@yahoogroups.com

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Lymphatic Disorders Support Group @ Yahoo Groups

While we have a number of support groups for lymphedema... there is nothing out there for other lymphatic disorders. Because we have one of the most comprehensive information sites on all lymphatic disorders, I thought perhaps, it is time that one be offered.

DISCRIPTION

Information and support for rare and unusual disorders affecting the lymph system. Includes lymphangiomas, lymphatic malformations, telangiectasia, hennekam's syndrome, distichiasis, Figueroa
syndrome, ptosis syndrome, plus many more. Extensive database of information available through sister site Lymphedema People.

http://health.groups.yahoo.com/group/lymphaticdisorders/

Subscribe: lymphaticdisorders-subscribe@yahoogroups.com

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Lymphedema People New Wiki Pages

Have you seen our new “Wiki” pages yet?  Listed below are just a sample of the more than 140 pages now listed in our Wiki section. We are also working on hundred more.  Come and take a stroll! 

Lymphedema Glossary 

http://www.lymphedemapeople.com/wiki/doku.php?id=glossary:listing 

Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema 

Arm Lymphedema  

http://www.lymphedemapeople.com/wiki/doku.php?id=arm_lymphedema 

Leg Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=leg_lymphedema 

Acute Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=acute_lymphedema 

The Lymphedema Diet 

http://www.lymphedemapeople.com/wiki/doku.php?id=the_lymphedema_diet 

Exercises for Lymphedema  

http://www.lymphedemapeople.com/wiki/doku.php?id=exercises_for_lymphedema 

Diuretics are not for Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=diuretics_are_not_for_lymphedema 

Lymphedema People Online Support Groups 

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_people_online_support_groups 

Lipedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=lipedema 

Treatment 

http://www.lymphedemapeople.com/wiki/doku.php?id=treatment 

Lymphedema and Pain Management 

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_and_pain_management 

Manual Lymphatic Drainage (MLD) and Complex Decongestive Therapy (CDT)

http://www.lymphedemapeople.com/wiki/doku.php?id=manual_lymphatic_drainage_mld_complex_decongestive_therapy_cdt 

Infections Associated with Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=infections_associated_with_lymphedema 

How to Treat a Lymphedema Wound 

http://www.lymphedemapeople.com/wiki/doku.php?id=how_to_treat_a_lymphedema_wound 

Fungal Infections Associated with Lymphe dema 

http://www.lymphedemapeople.com/wiki/doku.php?id=fungal_infections_associated_with_lymphedema 

Lymphedema in Children 

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_in_children 

Lymphoscintigraphy 

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphoscintigraphy 

Magnetic Resonance Imaging 

http://www.lymphedemapeople.com/wiki/doku.php?id=magnetic_resonance_imaging 

Extraperitoneal para-aortic lymph node dissection (EPLND) 

http://www.lymphedemapeople.com/wiki/doku.php?id=extraperitoneal_para-aortic_lymph_node_dissection_eplnd 

Axillary node biopsy 

http://www.lymphedemapeople.com/wiki/doku.php?id=axillary_node_biopsy

Sentinel Node Biopsy 

http://www.lymphedemapeople.com/wiki/doku.php?id=sentinel_node_biopsy

Small Needle Biopsy - Fine Needle Aspiration 

http://www.lymphedemapeople.com/wiki/doku.php?id=small_needle_biopsy 

Magnetic Resonance Imaging 

http://www.lymphedemapeople.com/wiki/doku.php?id=magnetic_resonance_imaging 

Lymphedema Gene FOXC2

 http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_gene_foxc2

 Lymphedema Gene VEGFC

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_gene_vegfc

 Lymphedema Gene SOX18

 http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_gene_sox18

 Lymphedema and Pregnancy

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_and_pregnancy

Home page: Lymphedema People

http://www.lymphedemapeople.com

Page Updated: Dec. 17, 2011