The Australasian Tuberous Sclerosis Society

ATSS is raising funds to research the development of a Rapamycin Topical Cream that will aim to reduce the growths (angiofibromas) associated with Tuberous Sclerosis Complex on the face. This would eliminate the need for painful laser surgery.

The fundraising target is $200,000, of which $150,000 has been raised so far. If you would like to help ATSS reach this fundraising goal you can donate here. All donations $2 and over are tax deductible.

To find out more about this project, click 'Read More'. There is no specific cure for TSC although medical and surgical interventions are available that may reduce seizure frequency, improve some autistic behaviours, and treat tumours based on individual needs. Special education is required for 50% of TSC affected people.

One clinical feature that causes people with TSC and their families concerns is the skin growths called –angiofibromas. Available treatment options are limited and include laser surgery. This option is painful, often requires multiple treatments, has variable results and is not commonly available especially for children.

Skin involvement in TSC

The earliest sign of TSC can be white patches on the body, often visible at birth. As a child grows older other skin signs usually develop including a disfiguring skin condition called angiofibroma which spreads across the nose and cheeks often mistaken as severe acne.. These lesions start as red pin point spots but later the lesions become “lumpy “. The lesions become more numerous and pronounced with age. Raised plaques of skin can also grow on the forehead. These disfiguring skin conditions may be partially treated with laser therapy but his is quite invasive, painful not widely available and the lesions tend to recur.

Facial angiofibromas often have a negative psychological effect on the person causing reduced self confidence, low self esteem and difficulties forming relationships with others.

New Treatment

Trials are being held in USA and UK with a targeted oral medication called “Rapamycin”, (also called everolimus and sirolimus) that reduces the size of tumours in the brain and kidney. Early positive results are encouraging and provide some hope for treatment of the clinically relevant benign growths in organs of the body and reduction of seizures.

A secondary consequence that has been noticed is improvement of the facial angiofibromas. Rapamycin however may cause serious side effects so systemic use has to be justified. Rapamycin may have a role as a topical treatment of the disfiguring facial angiofibromas which affect 80% of TSC affected people.

As yet studies looking into this possibility have not taken place. Our aim is to support Australian researchers in developing and studying an ointment form of Rapamycin to treat facial angiofibromas. To date the pharmaceutical companies marketing oral Rapamycin are reluctant to develop a topical agent due to the small market.

Clinicians Involved

The TSC Clinic at Sydney Children’s Hospital, Randwick is coordinated by:

Dr John Lawson, Paediatric Neurologist, B. Med., F.R.A.C.P., Ph.D.

Dr David Mowat, Geneticist, M.B., B.S., D.A.R.C.O.G., M.R.C.G.P., F.R.A.C.P., H.G.S.A

Other specialists including a renal physician, a dermatologist, genetic counsellor and cardiologist are members of this multidisciplinary team.

The Project

This project is aimed to research and develop a topical form of Rapamycin for the treatment of TSC facial angiofibromas and requires privately sourced funding. The financial goal is to raise $200,000.

This amount would be used to fund a research scientist and conduct this project over 1-2 years: from approval by the Hospital Ethics Committee, to the research and development of an ointment available to children and adults for control and management of the facial angiofibromas of TSC.

If you would like to help ATSS reach this fundraising goal you can donate here. All donations $2 and over are tax deductible.

To be successful this project will need the support of many people. If all TSC affected people in Australia donated just $20 to this exciting project, then $66 000 would be raised. However, there are many other ways families can contribute. You could follow the example of three ATSS families who have written their personal story and sent it with a request for donations to all their friends and email contacts. There are many fundraising suggestions, but what this project needs is commitment from many. A fundraising committee has been established and plans are underway to hold a Gala Dinner in Sydney in May 2011 with hopes of raising $50 000. This project is a wonderful opportunity for everyone to contribute- every little bit helps.