Medication Adherence in Children, Adolescents and Adults With Neurofibromatosis Type 1 (NF1) on Clinical Treatment Trials

Background:

- Neurofibromatosis type 1 (NF1) is a genetic disorder that affects approximately 1 in
3,500 individuals and is associated with a broad variety of symptoms and physical
findings.

- Plexiform neurofibromas (PN) are histologically benign tumors which occur in 25-50% of
patients with NF1 and can lead to significant morbidity.

- Oral therapeutic options for the treatment of plexiform neurofibromas are being actively
developed, however early clinical data indicate that prolonged treatment over the course
of months to years will likely be needed to maintain clinical efficacy

- Long-term medication adherence is an ongoing challenge for patients with many types of
chronic illness, and clinical experience makes us strongly suspect patients with NF1
will likely have this issue as well.

- In other diseases, such as HIV and Acute Lymphoblastic Leukemia, decreased medication
adherence has been associated with poorer clinical outcomes, and this may be the case
for NF1 as well.

- The medication event monitoring systems (MEMSTM) uses a computerized method of tracking
the dates and times of a pill bottle being opened, and has been shown to be a more
accurate measure of medication adherence than patient diaries or pill counts in other
patient populations.

- Assessing medication adherence over time in this unique population will be essential for
assessing any impact on medical outcomes, identifying potential behavioral
interventions, and targeting patients most at risk for nonadherence moving forward.

Objective:

- To establish the feasibility of using MEMSTM to monitor medication adherence in the NF1
population

Eligibility:

- Subjects must have a diagnosis of NF1 and be between 3 and 59 years of age

- Participants must be enrolled on a clinical trial for an oral medication in pill (tablet
or capsule) form directed at the treatment of plexiform neurofibroma(s)

Design:

- This multi-site, longitudinal study will recruit children and adults with NF1 who are
currently enrolled in a treatment protocol for a drug targeting PN volume reduction.

- MEMSTM caps will be used to monitor adherence over time along with patient diaries and
pill counts.

- Patients with MEMSTM cap data indicating <90% adherence at any study visit (typically
across 3 - 6 cycles) will be administered a measure assessing barriers to adherence
electronically and will be interviewed to evaluate what factors might contribute to
decreased medication adherence and what potential interventions they consider useful.

- INCLUSION CRITERIA:

Inclusion Criteria for Patient

- Patients must be between 3 and 59 years of age at the time of the baseline assessment.

- Patients must be enrolled on an NF1 clinical trial for an oral medication directed at
the treatment of plexiform neurofibroma(s) (enrollment on this study to occur ideally
within 1st cycle) Patients must have regular access to a computer or electronic device
(e.g., smartphone, tablet) with internet access.

- Must have a parent or adult primary caregiver willing to participate in the study.

- Ability of subject or Legally Authorized Representative (LAR) to understand and the
willingness to sign a written informed consent document.

- Subjects must be able to read and comprehend the English language.

Inclusion Criteria for Parents or Caregivers

- Must be a parent or primary caregiver of a child (or if applicable adult patient) of
diagnosed with NF1 and enrolled on a clinical trial for oral medication.

- Must have a child (or if applicable adult patient) willing to participate in the study

- Must have regular access to a computer or electronic device (e.g., smartphone, tablet)
with internet access.

- Must be able to speak and understand English.

- Ability of subject to understand and the willing to sign a written informed consent
document.

EXCLUSION CRITERIA:

Exclusion Criteria for Patient

- In the opinion of the PI or an AI, the subject has significant cognitive or emotional
difficulties that would prevent them from being able to understand and/or participate
fully in the study or complete the measures. Though these patients might be receiving
assistance in taking medication from a caregiver, it is likely that their medication
takingroutine would be significantly different from the general population of patients
with NF1.

- Patients receiving the study drug in liquid form, since the use of MEMSTM caps
prohibits liquid dosing.

Exclusion Criteria for Parent or Caregiver