Case studies: what can be achieved?

What can an organisation supporting a rare disease achieve? The following three examples show the encouraging accomplishments possible.


Rare disease, widespread impact: the Tuberous Sclerosis Alliance

Tuberous Sclerosis complex (TSC) is an inherited genetic disorder affecting almost all organ systems of the body, and shares similarities with BHD syndrome; for examples, symptoms of TSC include benign tumours in the lung, skin and kidneys. At the molecular level, it has been shown that the two genes involved in TSC, and the gene involved in BHD syndrome, are all involved in the same cell signalling pathway.

In the past decade, several therapeutics have been developed targeting this pathway for TSC, including rapamycin and everolimus. Development of these treatments was driven by the support in basic scientific research into TSC. The Tuberous Sclerosis Alliance, based in the United States, has been especially active in promoting basic research as well as facilitating development of treatments. These therapeutics may also have application to disorders in which the same pathway is involved. For example, a clinical trial testing a rapamycin skin cream for BHD is now underway.


Fostering centres of excellence: The LAM Foundation

The LAM Foundation, based in the United States, is pivotal to the support of therapeutic research and development. Lymphangioleiomyomatosis (LAM) is a cystic lung disease affecting primarily women. There are two types: LAM associated with TSC, and sporadic LAM.

In the 16 years the LAM Foundation has been supporting research, it has seen a number of significant milestones, from identification of a gene for LAM, to recently the possibility of a simple diagnostic blood test, and the first clinical trial for LAM (Multicenter International LAM Efficacy of Sirolimus Trial) which had its favorable results published in the New England Journal of Medicine in March 2011.

The LAM Foundation has established a country-wide clinical network of experts in LAM, so that individuals do not have to travel long distances to see a doctor with expert understanding of their condition. The creation of a network of centres of expertise is now considered the most effective strategy to offer the best care for people affected by rare conditions.


Influence of rare disease organisations: the Multiple Myeloma Research Foundation

Multiple myeloma is a rare (prevalence of 35/200,000) metastatic cancer of the plasma cells in bone marrow. It is called multiple as the myeloma most often appears in more than one location. Multiple myeloma affects the hematopoietic system, the system making the components of blood. Individuals thus may face a number of imbalances in the blood, causing symptoms such as anaemia and hypercalcaemia.

The Multiple Myeloma Research Foundation (MMRF) has spearheaded advances in myeloma treatment. The MMRF, founded in 1998, is the leading organisation in the United States for supporting research into multiple myeloma. Because the MMRF has emphasised a collaborative model to develop research insights into viable treatments, they have seen the approval of four innovative drugs since 2003. In particular, bortezomib is an example of basic scientific knowledge directly exploited in drug design. Bortezomib is the first inhibitor of proteasomes, complexes which degrade unneeded proteins and are especially active in the myeloma cells. This treatment is also used for a type of lymphoma.


Tuberous sclerosis complex entry in GeneReviews.

TSC clinical trials post on the BHD Research Blog.

McCormack et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med. 2011 Apr 28;364(17):1595-606. 

Orphanet Report, Prevalence of rare diseases: Bibliographic data, May 2011.

Multiple Myeloma article on

Bortezomib information, National Cancer Institute