Highlights of Australia Visit

I recently returned from a visit to Melbourne, Australia, where I met with the NF team affiliated with the Royal Children’s Hospital and the Murdoch Children’s Research Institute. The NF Clinical Trials Consortium has benefitted from a long-term collaboration with the Australian NF team; during this trip, I met with the group of investigators who conducted the clinical trial evaluating the effectiveness of lovastatin in improving cognitive problems in people with NF1. Lovastatin is a widely-used cholesterol-lowering drug; in previous mouse studies, it was shown to improve learning in the mouse NF1 model, perhaps based on interference with Ras binding to the cell membrane. Based on the results of these studies, some parents of children with NF1 asked for prescriptions of lovastatin for their children. While lovastatin is a relatively safe medication, there are side effects to be considered when prescribing it, especially for children.

The clinical trial evaluating the effectiveness of lovastatin for learning problems in NF1, known as the STARS study, was conducted through the NF Clinical Trials Consortium. Serving as the lead investigators, the Australian research group had responsibility for study design, recruitment of many of the participants, and data evaluation. The STARS study showed that lovastatin was not an effective treatment for learning problems in NF1. This finding was important because it demonstrated that it’s not appropriate to expose a child with NF1 to the side effects of this medication if the goal is to improve cognitive function. During my visit, the research team also shared information about other exciting work in which they are engaged related to neurocognitive issues in NF1, as well as other areas.

Also during my visit, I was honored to speak at an event held by the Australian NF patient advocacy group, the Children’s Tumour Foundation. This organization is similar to the Children’s Tumor Foundation in the U.S., as it serves as a major source of patient advocacy for NF in adults and children in Australia. The event had robust attendance and featured numerous speakers from around the region. I was also grateful to have the opportunity to connect with Australian NF families to discuss their challenges and concerns, which are much the same as those faced by NF families in the U.S. and elsewhere in the world. My discussions with these families are a reminder that NF is an international condition that affects individuals and families in a similar way regardless of race, ethnicity, or socioeconomic status.

As I mentioned in the previous blog, the 2018 NF Conference will be held in Paris in November, which is the first time this international conference has been held outside the U.S. Our group from UAB will be well represented at the conference, with plans to provide several poster presentations and at least one platform presentation summarizing our drug discovery initiatives and progress in clinical trials. Our lab work is focused on restoring function to the mutated NF1 gene or gene product; we’ve recently obtained renewed funding to advance these projects to the next stage, and I’ll discuss these developments in a future blog.

Guidelines for Finding an Experienced NF Program

Following on the conversation I had with patients and families in Australia, a commonly asked question from individuals and families affected by NF is: How do I find an experienced NF program? Sometimes this is a challenging task, especially for people who don’t live near large cities or major academic centers. For those who do live near major academic medical centers, it’s important to know that most of these centers have practitioners who are experienced in managing NF, although they may or may not have a dedicated NF clinic.

An important resource for locating an experienced clinician or clinic is to check the “Find a Doctor” list of NF clinics that is maintained and regularly updated on the Children’s Tumor Foundation (CTF) web site (www.ctf.org/understanding-nf/find-a-doctor). To be placed on this list, clinics much submit initial information, as well as annual renewal information to remain on the list. As part of the renewal process, NF clinics are asked whether their program is engaged in clinical research, whether they see both adult and pediatric patients, and how care transitions from adult to pediatric patients are managed. Providing a continuum of care for pediatric and adult patients can be challenging if NF programs don’t have clinicians with experience in treating both children and adults. Other important questions in evaluating the quality of an NF program include:
  • How many patients are seen in the clinic?
  • Does the clinic provide access to a consistent group of clinicians?
  • What is the capacity to coordinate care with other specialties?
  • Is the NF program participating in clinical studies and publishing the results?
  • Is the NF program participating in national and international NF conferences?

These measures are indicators of a program’s commitment to providing the highest level of NF care and also serve as the hallmark of a center of excellence for an NF clinic.