CTF Clinical Research Awards

2023-2024 CRA Collaboration

Principal Investigators:
Pamela Wolters, PhD, National Cancer Institute, Center for Cancer Research
Julia Finkel, MD, Children’s National Medical Center and Children’s Research Institute

Evaluation of a Novel Physiologic Biomarker of Pain in Neurofibromatosis Type 1
Neurofibromatosis 1 (NF1) is a genetic condition that causes tumors and other problems, often leading to pain and difficulty with daily activities. One common type of tumor, called plexiform neurofibromas (PNs), affects about half of people with NF1 and can cause significant pain. The first FDA-approved drug for treating PNs in children who can’t have surgery is selumetinib, but additional trials are exploring its effects on other NF-related tumors, including cancerous ones.

While some treatments help reduce tumor size, they don’t make the tumors disappear completely, and they must be taken for long periods. This makes it crucial to measure how much pain a patient is experiencing to see if a treatment is truly helping. Traditional pain questionnaires can be complicated to use with younger children, people with learning challenges, and those experiencing different types of pain, which can be influenced by mood or outside factors like family support.

To address this need, this collaborative grant will support research into a new tool developed at Children’s National Hospital called the AlgometRx Nociometer. This device measures pain by assessing three types of nerve fibers and providing a score that helps identify the type of pain a person feels. It also tracks how well treatments work over time. Our study will focus on using this device with patients who have NF1, especially young children, to see if it can measure different types of pain and give consistent results. We also hope to expand its use to people with schwannomatosis, including NF2-related schwannomatosis, who also experience pain.

By funding this innovative research, the Children’s Tumor Foundation aims to fill a gap in NF care by offering a simple, accurate way to measure and monitor pain, helping doctors improve pain management and future treatments.

Bernat Gel ($149,938.20)
Germans Trias i Pujol Research Institute
Nanopore-based genomic analysis of minimally invasive biopsies of ANNUBP and MPNST for better diagnostics and management  
MPNSTs (malignant peripheral nerve sheath tumors) are the leading cause of death in people with NF1, with about a 10% chance of developing one. These tumors often come from plexiform neurofibromas, but not all intermediate tumors (called ANNUBPs) will become dangerous. However, it’s difficult to tell the difference between harmless ANNUBPs and life-threatening MPNSTs using current methods. Surgery is the only way to treat them, but it can cause serious pain and disability, making it hard to decide if surgery is necessary. A new tool to better identify and differentiate these tumors could help doctors make more informed decisions, avoiding unnecessary surgeries while ensuring dangerous tumors are treated early. This project aims to create such a tool, using advanced DNA sequencing to provide clear information from small tumor samples.

Yang Hou  ($149,940)
Florida State University Research Foundation
Cognitive aging in middle-aged and older adults with neurofibromatosis type 1: Patterns and predictors
Cognitive impairments affect 80% of people with neurofibromatosis type 1 (NF1) and can significantly impact their quality of life, but most research has focused on children and young people. Middle-aged and older adults (MOA) with NF1 have been largely overlooked, and we don’t know much about how their cognitive abilities change as they age. This lack of information makes it hard to develop treatments to help them. This study aims to fill that gap by comparing the cognitive abilities of 500 adults with NF1 (aged 50 and older) to a similar group without NF1. The study will look at how cognitive function changes with age, what NF1-related factors put some people at higher risk for cognitive issues, and how psychological and social factors affect cognitive health. The findings will help guide treatment plans and improve the quality of life for older adults with NF1.

Vanessa Merker ($149,972)
Massachusetts General Hospital (Mass General)
Demonstrating Clinical Benefit of New Treatments for NF2-related Schwannomatosis: Developing A More Comprehensive and Sensitive Measure of Quality of Life for NF2 Clinical Trials
Patient-reported outcomes are crucial for evaluating how new treatments help people with benign tumors like neurofibromas or schwannomas. In clinical trials for NF2 (a condition causing tumors), the NFTI-QOL was used to measure quality of life but had some gaps, missing important symptoms and not showing changes over time as patients improved. To fix this, the NF2-QOL will be developed, a new measure designed to better reflect the quality of life for NF2 patients. Based on patient feedback, expert review, and further testing with NF2 patients, the new measure will ensure it accurately captures how patients feel and any improvements over time. This tool will be used in clinical trials to show the FDA how new treatments improve patients’ lives, not just shrink tumors, with the hope of leading to better, more meaningful treatments for NF2.

Margaret Wallace ($146,348)
University of Florida
Study of NF1 in Families
Neurofibromatosis type 1 (NF1) can cause a wide range of symptoms, from harmless skin spots to learning difficulties to tumors, some of which may turn cancerous. However, it’s hard to predict which symptoms someone with NF1 will develop and when, making it challenging for both doctors and patients. There are many different mutations in the NF1 gene, and studies on how NF1 shows up in families across generations have been limited. But by studying NF1 in families, we may discover patterns that individual cases don’t show. This research will look at data from families who have contributed information for over 30 years, including details about their NF1 gene mutations. We hope to identify patterns within families that could help predict symptoms or lead to new treatments. Any insights we gain could be used for future research to understand why certain symptoms occur and how to treat or predict them better.

Taylor Sundby ($112,352)
Center for Cancer Research, NCI, NIH
Dissecting the circulating proteome in NF1-associated peripheral nerve sheath tumors.
People with neurofibromatosis type 1 (NF1) have about a 15% chance of developing a type of cancer called malignant peripheral nerve sheath tumors (MPNST). These cancers are very aggressive, and 80% of people diagnosed with MPNST die within five years, mainly because the cancer doesn’t respond well to treatments like chemotherapy and radiation. However, outcomes are much better when the cancer is caught early and can be surgically removed. The problem is that MPNST starts from non-cancerous tumors, making it hard to detect early with current methods like imaging or biopsies.

To improve early detection, we are working on a non-invasive blood test called a “liquid biopsy,” which looks for proteins and genetic material that tumors release into the bloodstream. We have already shown that a type of genetic material in the blood, called cell-free DNA (cfDNA), can help tell the difference between non-cancerous and cancerous tumors. We believe that by adding other blood markers, we can detect when these benign tumors are turning cancerous, allowing for earlier diagnosis and better treatment outcomes. We also think that tracking changes in these blood markers over time could help monitor how well treatments are working.

Bonita Klein-Tasman ($150,000)
University of Wisconsin-Milwaukee
Effectiveness of a Telehealth Group for Improving Peer Relationships for Adolescents with Neurofibromatosis Type 1: Feasibility of Multisite Collaboration
Many adolescents with neurofibromatosis type 1 (NF1) struggle with social skills, but there’s little research on effective ways to help. The PEERS program, which has been successful in improving social skills for teens with autism and ADHD, is now available through telehealth. This format is great for rare conditions like NF1 because it allows families to access services from anywhere, reduces travel burdens, and helps connect families with others who have NF1. A recent trial showed that PEERS can improve social skills in teens with NF1. Now, researchers are conducting a pilot study with 40 teens to further explore its effectiveness, aiming to improve social skills, connectedness, and quality of life.

Lei Xu ($150,000)
Massachusetts General Hospital (Mass General)
Profile losartan-induced changes in tumor microenvironment and inflammation in NF2 VS patient samples
Neurofibromatosis type 2 (NF2) causes tumors that lead to hearing loss, social difficulties, and depression. There is currently no FDA-approved drug to treat these tumors or the hearing loss they cause. Bevacizumab helps some patients, but its effects don’t last long, and not everyone responds. Radiation is another option, but it can worsen hearing loss. New treatments are urgently needed. Researchers recently found that losartan, a common blood pressure drug, can prevent hearing loss in mouse models. Now, they plan to study NF2 patients to see if losartan can help and to identify biomarkers that predict who is at risk for hearing loss.

Frank Buono
Yale University
The Development and Validation of the NF Pain Module (NFPM) within iCanCope-NF Clinical Trial
Dr. Buono’s group will validate a mobile-app-based pain assessment tool for NF1. This grant is complementary to a Congressionally Directed Medical Research Program grant to develop a customized pain assessment tool specifically for NF1 that evaluates the pain comprehensively and can be used for clinical trials and treatment planning. The NF Pain Module (NFPM) will measure pain catastrophizing, tolerance, and threshold, along with more established measures such as pain severity and interference. It will provide a tool to facilitate differentiation in pain experience and tracking for adults with NF1. Additionally, validating this assessment may enable more individualized treatments for pain symptoms.                     

Gordon Harris ($149,866)
Massachusetts General Hospital
Federated deep-learning platform for volumetric quantification of tumor burden in patients with neurofibromatosis on whole-body MRI
Whole-body MRI (WBMRI) is the go-to imaging method for monitoring tumors in people with NF (neurofibromatosis), but tracking changes in tumor size over time is challenging due to a lack of accurate and fast tools. Deep learning has made automated tumor detection possible, but applying it to NF has been difficult because it requires large, diverse data sets, which are hard to gather for rare diseases. A solution called Federated Deep Learning (Fed-DL) allows institutions to collaborate by sharing model information, not patient data, while protecting privacy. This project aims to develop an AI-based platform, 3DQI/Deep-NF, to automatically measure NF tumors using data from multiple hospitals. By doing this, the platform will improve the tracking of tumor growth and help doctors better monitor patients and assess treatments.

David Largaespada, MD, PhD
University of Minnesota
A Nutraceutical/Dietary Intervention for Neurofibromatosis type 1
The concept of dietary interventions, or “nutraceuticals” as a way to slow or prevent the development of cutaneous and plexiform neurofibromas in NF1 has long been of interest. While very small-scale clinical trials of the “Mediterranean diet” have hinted at anti-tumor activity, there not yet been a thorough examination of the potential mechanism of action, safety, and effectiveness of key elements of this type of diet. Dr. Largaespada’s group will test a purified, standardized combination of curcumin (the active ingredient in turmeric) and oleocanthanol (a bioactive component of extra-virgin olive oil) for its effects in cell culture and animal models and subsequently in human subjects who are unable to take MEK inhibitors such as selumetinib.

Geoffrey McCowage, MD
Sydney Children’s Hospitals Network, Australia
Towards improving MPNST molecular diagnosis for patients with neurofibromatosis type 1 through a liquid biopsy test
Accurate and timely diagnosis of malignant peripheral nerve sheath tumor (MPNST) in people with NF1 poses a challenge in current clinical settings. This study will explore whether detection of MPNST could be achieved by “liquid biopsy,” a non-invasive method to detect the DNA biomarkers, or “signatures” of different types of tumors. The researchers will investigate whether methylation patterns, as well as somatic mutations, in SUZ12, EED, TP53, and CDKN2A/B genes can be identified in the blood of patients with NF1. Such findings could lead to earlier treatment and better outcomes for people at risk of MPNST.

Vanessa Merker, PhD
Massachusetts General Hospital, Boston
Incorporating FDA Guidance on Patient-Focused Drug Development in NF: A Pilot Study of Qualitative Patient Interviews within NF Clinical Trials
This ancillary study will measure quality of life (QoL) in people with NF2 who are enrolled in the INTUITT-NF2 clinical trial. Dr. Merker’s group will solicit patients’ views on the symptoms and impacts that are relevant to and most important for their target tumor type. By embedding QoL measures within a treatment trial, the researchers can compare qualitative such as patients’ self-reported symptoms, functioning, and quality of life to the INTUITT-NF2 trial’s quantitative assessments of tumor volume, hearing, and adverse events. This study will be used to develop consensus guidelines on embedding qualitative interviews in NF clinical trials within the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) collaboration. Such guidelines would be applicable to a wide variety of NF clinical trials in the future as the U.S. FDA moves towards requiring the inclusion of more QoL information in clinical trial planning and the drug approval process.

Bruce Korf, MD, PhD
University of Alabama at Birmingham
Paired tissue biopsy for target inhibition and immune microenvironment changes in patients with NF1 and MPNST treated with MEK, bromodomain, and checkpoint inhibitors.
This grant is ancillary to a study funded by the Neurofibromatosis Clinical Trials Consortium in which NF1 patients with MPNST will receive selumetinib in combination with durvalumab (a bromodomain antibody). This Clinical Research Award will support tumor biopsies prior to treatment and while on treatment to better understand how these drugs act on tumor tissue.

Karin Walsh ($39,404.20)
Children’s National Medical Center
The impact of Ras/MAPK signaling pathway-targeted therapy (MEK-inhibitor) on neurocognitive functioning in children with NF1
Low-grade gliomas are the most common brain tumors in children, and kids with NF1 are at higher risk of developing them. In the U.S., around 20,000 children with NF1 have this type of tumor. Because these tumors are often in hard-to-reach areas of the brain, surgery isn’t always an option, so chemotherapy is used, which can negatively affect a child’s cognitive development. Children with NF1, who may already have cognitive challenges, are especially at risk for this. A new treatment, called MEK inhibitors, has shown promise in shrinking tumors and may also help protect or even improve cognitive function during treatment, unlike traditional therapies. This study will explore whether this new treatment can both effectively treat tumors and protect or improve brain function in children with NF1.

Aaron Schlindeler, MD
Children’s Hospital at Westmead, Australia
L-Carnitine Safety and Effects on Muscle
Low muscle tone, muscle weakness, and high levels of fatigue are often concerns for individuals with NF1. Evidence suggests that an underlying change in metabolism may be a cause. Both human NF1 muscle biopsies and NF1 mouse models show a build-up of lipid (fat) droplets in muscle cells. In the mouse model, treatment with the nutritional supplement L-carnitine reduced muscle lipid and improved fatigue resistance, as reported by Aaron Schindeler, MD, of The Children’s Hospital at Westmead, Australia, Based on these findings, CTF recently awarded Dr. Schindeler a  Clinical Research Award for a pilot study of L-carnitine supplementation to determine whether this intervention is safe and to explore whether it can improve quality of life and functional outcomes in children with NF1.

Raymond Kim
University of Toronto, Canada
Cell-free DNA as a biomarker in Neurofibromatosis 1
Neurofibromatosis type 1 (NF1) is a rare genetic condition that predisposes patients to many types of cancer. Because doctors cannot predict when or if patients will develop cancer, tumors are often discovered late and do not respond well to therapy. To improve care for NF1 patients, doctors need tests that can identify cancers earlier. In recent years, scientists have discovered that they can detect cancer using cell-free DNA (cfDNA). As tumors grow, cfDNA gets released into the bloodstream and can be detected using special blood tests. Our team plans to determine whether 2 newly-developed cfDNA technologies can (a) detect early cancer in NF1 patients, (b) identify the tumor’s location in the body, and (c) monitor disease severity. If successful, these tests will improve cancer care and health outcomes for those living with NF1.

David Viskochil, MD, PhD
University of Utah
A Phase II Trial on the Effect of Low-Dose versus High-Dose Vitamin D Supplementation on Bone Mass in Adults with Neurofibromatosis Type 1
Low bone density and vitamin D insufficiency occur frequently among people with NF1, but there are no proven preventive strategies in NF1 patients. This study is designed to assess the efficacy of oral vitamin D3 and calcium therapy to prevent abnormal loss of bone mass in adults with NF1. A two-year prospective double-blind trial of two different doses of daily vitamin D supplementation in adults with NF1, who are insufficient in serum 25(OH)-vitamin D [25(OH) D] at the time of enrollment, will be conducted. The CRA grant from CTF will supplement the investigators’ Clinical Trial Award from the Department of Defense (DoD: #W18XWH-12-1-0487) 

Karin Walsh, PsyD
Children’s National Medical Center
Reliability and Validity of Computerized Cognitive Outcome Tools in NF1
Clinical trials for improving cognitive and learning abilities in children with NF1 have had mixed results, partly due to issues with how outcomes were measured. This grant supports the REiNS initiative’s Neurocognitive Committee in reviewing current tools for measuring cognitive outcomes in these trials. They will recommend the most reliable and sensitive tools, and will establish NF-specific data to ensure accurate testing. The goal is to improve future clinical trials with better methods, supported by a $150,000 grant.

Ana-Maria Vranceanu, PhD ($149,836 a Clinical)
Massachusetts General Hospital
Research Award (CRA) recipient in 2013 and 2014, has been awarded a third CRA
The Relaxation Response Resiliency Program for patients with NF2 who are deaf or have severe hearing loss
Neurofibromatosis type 2 (NF2) often causes hearing loss, facial weakness, and balance problems, which can lead to high stress, anxiety, depression, and lower quality of life. People with significant hearing loss are especially affected, as social isolation and stigma make things worse. A mind-body intervention called 3RP-NF has been shown to improve mental health and quality of life in NF2 patients. Now, researchers are adapting this program for deaf or hard-of-hearing NF2 patients, using real-time transcription via Skype. The study will test whether this adapted program improves the quality of life and mental health for these patients.

Gena Heidary, MD, PhD ($150,000)
Boston Children’s Hospital
Visual Field Outcomes in Pediatric Patients with NF-1-associated Optic Pathway Gliomas
Most studies on treating optic pathway gliomas (OPGs) in children with NF1 focus on imaging and visual acuity (VA), or sharpness of vision, to measure treatment outcomes. However, testing for visual field (VF), or peripheral vision, is less common, especially in young children, even though VF loss is important in OPGs. VF loss can happen alongside VA loss, or it can be the only sign of vision problems when OPGs affect the back part of the visual pathway. This study aims to gather data on using VF testing as a way to measure treatment success in children with NF1-related OPGs, and to explore how VF loss relates to VA, imaging results, and treatment outcomes.

Ana-Maria Vranceanu, PhD ($148,552)
Massachusetts General Hospital
Resiliency Training for Adolescents with NF1 and NF2 via Skype
A $148,000 grant was awarded to Dr. Ana-Maria Vranceanu at Massachusetts General Hospital to test a program called the Resiliency Program (3RP) for improving the quality of life in teens with NF1 or NF2, ages 12-18. This program teaches coping skills that have helped people with other medical conditions deal with stress, depression, and anxiety. Since not everyone has easy access to these therapies, Dr. Vranceanu’s team is testing the program through Skype. If successful, the program may be expanded to include younger children and deaf patients.

AeRang Kim, PhD
Children’s Research Institute in Washington, D.C.
Phase 1 Trial of Combined MEK and mTOR Inhibition in MPNSTs
This project will test a combination of drugs to treat aggressive tumors called malignant peripheral nerve sheath tumors (MPNSTs), which can occur in NF1 and are hard to treat. Dr. Kim and her team will test the safety of this drug combination in humans, as it has shown promise in animal models. The drugs target the overactive RAS pathway in NF1 and include temsirolimus, an mTOR inhibitor, and selumetinib, a MEK inhibitor. The study aims to see if the combination can shrink tumors and find the best dose for future studies.

Bruce Korf, MD
University of Alabama at Birmingham
A Study of INFUSE Bone Graft in the Treatment of Tibial Pseudoarthrosis in NF1
This study will test a potential treatment for tibial pseudoarthrosis, a condition affecting 2-5% of people with NF1 that leads to poor bone healing,often requiring multiple surgeries or even amputation. The study will evaluate whether a device called INFUSE Bone Graft, which contains a compound called BMP-2 that promotes bone healing, can improve outcomes when used during surgery. The results will be compared to a control group of children with NF1 who undergo surgery without the BMP-2 treatment.

Eric Legius
Catholic University of Leuven (Katholieke Universiteit Leuven, KU Leuven)
Good manufacturing practice of clinical-grade advanced-therapy medicinal product in regenerative therapy for congenital pseudarthrosis of the tibia in 5  individuals
Infants with congenital pseudarthrosis often require the removal of damaged bone sections, and current treatments using bone grafts from the hip are not ideal due to pain, blood loss, risk of infection, and limited bone supply. To address this, a new regenerative implant called PROXANEX has been developed. This implant combines a scaffold, bone-forming cells, and growth factors to support better and lasting bone healing. Classified as an “Advanced-Therapy Medicinal Product” (ATMP), PROXANEX offers a promising solution for more effective treatment in these children.

Karin Walsh, PSYD
Children’s Research Institute
The Impact of Ras/MAPK signaling pathway-targeted therapies on neurocognitive functioning in youth with NF1
This study will use a short, computerized test called CogState to track changes in thinking and memory in children and teens (ages 4 to 18) with NF1 who are taking part in a clinical trial targeting the Ras/ERK pathway (using MEK or BRAF inhibitors) to treat tumors. This approach is innovative because it uses new technology to make testing easier and more accessible. The study will be conducted at multiple leading sites, including NIH, Children’s Hospital Boston, and Children’s Hospital of Philadelphia, allowing for a large and diverse group of participants. The main goal is to understand changes in memory, attention, and processing speed in young people with NF1 receiving these treatments.

Ana-Maria Vranceanu, PhD
Massachusetts General Hospital
Resiliency training for patients with Neurofibromatosis via videoconferencing with Skype
This study aims to test if a mind-body program, called 3RP, delivered through Skype, can improve the quality of life and resilience in people with NF. Participants in the 3RP group will learn coping skills, while a control group will receive general information about NF without skill training. Researchers believe the 3RP group will see greater improvement in their quality of life than the control group. This study builds on successful in-person testing of the program and will help determine if delivering it via Skype is effective. If results are positive, they could lead to more cost-effective, remote support options for people with NF.

Bruce Korf ($62,309.08)
University of Alabama at Birmingham
A Phase II Study of Everolimus (RAD001) for Children with Neurofibromatosis Type 1 and Chemotherapy-Refractory Radiographic Progressive Low-Grade Gliomas
No Summary Available

Kathryn North
The Children’s Hospital at Westmead
A Phase II Randomized Placebo-Controlled Double-Blind Cross-Over Trial of Methylphenidate in Children with Neurofibromatosis Type 1
Dr. North’s research group in Australia will study whether children with NF1 and attention deficit hyperactivity disorder (ADHD) benefit from the use of methylphenidate (Ritalin, Concerta). It will try to determine the characteristics of those children most likely to be helped by this medication.

Lei Xu
Massachusetts General Hospital
Effect of Anti-VEGF and Radiation on NF2 Vestibular Schwannoma
Radiation therapy is standard for NF2 vestibular schwannomas, but is associated with hearing loss in 50% of patients. Bevacizumab is a drug treatment that shows promise as an alternative to radiation but is not as effective as could be desired. This project will test whether a combination of radiation and bevacizumab might improve effectiveness and lessen unwanted effects.

Nicole Ullrich
Boston Children’s Hospital
Effect of Creating Visual Illness Narratives on Quality of Life in Children with Neurofibromatosis Type 1: A Pilot Intervention Study
Children and adolescents with NF1 will be guided in creating their own videos about their experiences. The aim is both to teach their clinicians what they need to know about living with NF1 and to empower these young patients by having them share their stories and articulate what they think and feel to an audience that is eager to listen and understand.

Maria Acosta, MD
Children’s National Medical Center
Computerized cognitive training for children with Neurofibromatosis type 1
No Summary Available 

Michael Fisher, MD ($99,992)
The Children’s Hospital of Philadelphia
Phase I trial of AZD6244 on plexiform neurofibromas
This Phase I study will test AZD6244 in children with NF1 and plexiform neurofibromas (PN) to find the best dose that can be tolerated over three treatment cycles (12 weeks) before moving to a larger Phase II trial. Since children with NF1 often need long-term treatment, this study will also look at any potential long-term side effects and how the drug behaves in the body, especially in younger patients (around 8 years old on average). 

Anat Stemmer-Rachamimov, M.D. ($99,914)
Massachusetts General Hospital
NF1-associated Gliomas Multicenter Consortium – Initiative for tumor stratification and the identification of prognostic indicators and treatable targets
Glioma tissue from NF1 patients will be collected during surgery and stored in a central database. The goal is to gather a large amount of data on both tumor and patient characteristics to see how they might work together to affect treatment outcomes.

Nicole Ullrich ($100,000)
Boston Children’s Hospital
Spatial learning in children with Neurofibromatosis type 1 assessed using a novel computerized task- Ancillary study to the randomized, placebo-controlled study of Lovastatin in children with NF1
Children with NF1 often have trouble with visual-spatial skills (like judging distances or understanding spaces). This study will use data from an existing lovastatin trial to see if a computer test can reliably measure these difficulties and to check if lovastatin improves visual-spatial skills in these children.

Matthias Karajannis
New York University, Langone Medical Center
Industry Collaborator: Novartis
Phase II Study of RAD001 in Children and Adults with Neurofibromatosis Type 2
Over recent years, clinical trials for NF2 drugs have started, with significant support from CTF, which has helped organize expert meetings and funded early trials. This new trial, the second funded by CTF, will test RAD001 (rapamycin) to see if it can slow or shrink the NF2 tumors vestibular schwannoma, meningioma, and ependymoma. RAD001 is safe and has been widely studied, even in large trials for NF1 tumors. If RAD001 shows positive effects, it could lead to future trials testing it with other drugs like Bevacizumab, potentially improving treatment options for NF2.

Rob Avery
Children’s National Medical Center
Optimization and Validation of Retinal Nerve Fiber Layer Thickness Imaging Protocols in Children with Optic Pathway Gliomas and Neurofibromatosis type 1
As NF clinical trials progress, there’s a need for faster ways to tell if a drug is working, so patients can benefit sooner. Dr. Avery’s study is testing a new technology, Spectral-Domain Optical Coherence Tomography, to detect early changes in the optic pathway in children with NF1-related optic pathway glioma. This tool could help predict if a drug will be effective early in a trial. Establishing this as a reliable biomarker will not only speed up future trials but also improve eye care for children with NF1 by providing better understanding of these tumors.

Cynthia Hingtgen
Indiana University
Biomarkers of cardiovascular disease as predictors of NF1 and its severity
Vascular disease is a common but often overlooked issue in people with NF1, especially younger patients, who are at higher risk. Researchers are gaining insights into the genetics and molecular causes of this condition. This study aims to develop a diagnostic test to predict the severity of vascular disease in NF1 by identifying a marker in the blood.

Jaishri Blakeley ($122,784)
Johns Hopkins University
Phase 0 Clinical Trial of Tykerb (Lapatinib) for Treatment of NF2 Vestibular Schwannoma
This study aims to understand how well the drug lapatinib reaches and works on vestibular schwannomas (VS) tumors, common in people with NF2. Researchers will measure the levels of lapatinib in these tumors and in the blood of patients taking it before surgery to see if it reaches therapeutic levels. They’ll also examine if lapatinib can block specific proteins (ErbB2 and EGFR) linked to tumor growth in these tumors, hoping it may slow down growth. Finally, they will compare how well lapatinib works in NF2-related VS and non-NF2 cases to identify any similarities in response.

Kim AeRang ($122,649)
National Cancer Institute
Phase I Trial of the Raf Kinase and Receptor Tyrosine Kinase Inhibitor Sorafenib (BAY 43-9006, Nexavar) in Children and Adolescents with Neurofibromatosis Type 1 and Inoperable Plexiform Neurofibromas
Plexiform neurofibromas (PN) are common and serious tumors in people with NF1, driven by genetic changes that make them grow and form new blood vessels. This study will test the drug sorafenib to see if it can slow down PN growth. Key goals include finding the safest dose, tracking side effects (like bone growth issues), and measuring how sorafenib affects tumor growth, blood flow, and quality of life in children and teens. Researchers will also check how well patients tolerate the drug over time and monitor any changes in cognitive function and overall well-being.