Developing Biomarkers of Plexiform Tumor Burden in Patients With Neurofibromatosis-Type 1

Learn more about:
Related Clinical Trial
Intervention Effectiveness on the Neurocognitive Functioning of Children and Adolescents With Neurofibromatosis Type 1 NF-1, Nutraceutical Intervention HL-085 in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas Pharmacokinetics, Safety and Efficacy of the Selumetinib Granule Formulation in Children Aged ≥1 to Developing Biomarkers of Plexiform Tumor Burden in Patients With Neurofibromatosis-Type 1 Clinical Hypnosis and Home Blood Pressure Monitoring in Children With Neurofibromatosis Type 1 Reliability of Functional Outcome Measures in Neurofibromatosis 1: Test- Retest Molecular Aspects of Preimplantation Genetic Diagnosis for NF1 Phase I Study to Assess the Effect of Food on the PK and Gastrointestinal Toxicity of Selumetinib in Adolescent Children With Neurofibromatosis Type 1 Related Plexiform Neurofibromas NFX-179 Topical Gel Treatment for Adults With Neurofibromatosis 1 (NF1) and Cutaneous Neurofibromas (cNF) Mechanism of Action of Transcranial Direct Current Stimulation in Neurofibromatosis Type 1 Study to Evaluate the Safety, Tolerability, PK Characteristics and Anti-tumor Activity of FCN-159 in Adult and Pediatric Participants With Neurofibromatosis Type 1 Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1 Efficacy and Safety of Selumetinib in Adults With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas Systematically Assessing Changes in Plexiform Neurofibroma Related Disfigurement From Photographs of Subjects With Neurofibromatosis Type 1 on a Phase 2 Clinical Trial Pilot Randomized Control Trial of Telehealth Group for Improving Peer Relationships (PEERS) in NF1 Open Trial of Telehealth Group for Improving Peer Relationships (PEERS) in NF1 Identification of Pre-Malignant Lesions In Pediatric Patients With Neurofibromatosis Type 1 Using Novel Magnetic Resonance Imaging Techniques Paired With Artificial Intelligence A Study of Selumetinib in Chinese Paediatric and Adult Subjects With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas (PN) Innovation in the Treatment of Persistent Pain in Adults With NF1: Implementation of the iCanCope Mobile Application- Clinical Trial Antioxidant Therapy With N-acetylcysteine for Children With Neurofibromatosis Type 1 Antioxidant Therapy With N-acetylcysteine for Learning and Motor Behavior in Children With Neurofibromatosis Type 1 A Long-term Study of NPC-12G Gel in Neurofibromatosis Type I NFX-179 Topical Gel Treatment in Adults With Neurofibromatosis 1 (NF1) and Cutaneous Neurofibromas (cNF) Analysis of Data Collected From Individuals Administered Neurobehavioral Assessments Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia Comparison of Gastrointestinal Motility in Healthy Children and Children With Constipation AZD6244 Hydrogen Sulfate for Children With Nervous System Tumors Photodynamic Therapy for Benign Dermal Neurofibromas- Phase II Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Medical Treatment of “High-Risk” Neurofibromas Fludeoxyglucose F 18 Positron Emission Tomography and Magnetic Resonance Perfusion Imaging in Patients With Neurofibromatosis 1 and Plexiform Neurofibroma Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1 Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1 Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (PNs) Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Treatment of NF1-related Plexiform Neurofibroma With Trametinib Subtle Myocardial Deformation Abnormalities in Asymptomatic Nf-1 Patients R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Study of Tasigna®/Nilotinib (AMN107) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Ranibizumab for Neurofibromas Associated With Neurofibromatosis 1 AZD2171 in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibroma and/or Neurofibroma Near the Spine MEK 1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas Study of Sutent®/Sunitinib (SU11248) in Subjects With NF-1 Plexiform Neurofibromas Neurofibromatosis Type 1 Brain Tumor Genetic Risk Acceptance and Commitment Therapy for Adolescents and Young Adults With Neurofibromatosis and Chronic Pain Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas Adaptation and Quality of Life Among Adults With Neurofibromatosis Type I Reliability of Functional Outcome Measures in Neurofibromatosis 1 Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults Medication Adherence in Children, Adolescents and Adults With Neurofibromatosis Type 1 (NF1) on Clinical Treatment Trials Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach. Sorafenib to Treat Children and Young Adults With Neurofibromatosis Type 1 and Inoperable Plexiform Neurofibromas Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST) Quality of Friendships in Children With Neurofibromatosis Study of Disease Severity in Adults With Neurofibromatosis Type 1 (NF1) MEK Inhibitor Mirdametinib (PD-0325901) in Patients With Neurofibromatosis Type 1 Associated Plexiform Neurofibromas Interventions for Reading Disabilities in NF1 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain Neurobiology and Treatment of Reading Disability in NF-1 From Molecules to Cognition: Inhibitory Mechanisms in ASD and NF1 Vitamin D Supplementation for Adults With Neurofibromatosis Type 1 (NF1) Efficacy of Computerized Cognitive Training and Stimulant Medication in Neurofibromatosis Type 1 Analysis of Plasma for Diagnosis and Follow-up of Neurofibromatosis Type 1 Study About Annoucement of the Diagnosis of Neurofibromatosis 1 in de Novo Forms MicroRNAs in Patients With Neurofibromatosis Type 1 Pirfenidone in Treating Young Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas Stem Cells in NF1 Patients With Tumors of the Central Nervous System Function of the Pigment Epithelium in Patients With Type 1 Neurofibromatosis NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate Trial to Evaluate the Safety of Lovastatin in Individuals With Neurofibromatosis Type I (NF1) Internet Support Group for Parents of a Child With Neurofibromatosis Type 1 Reading Disability in Children With NF1 Multi-center Project: Spinal Abnormalities in Neurofibromatosis Type1 (NF1) Patients Functional Imaging and Reading Deficit in Children With NF1 Effects of Physical Training on Bone and Muscle Quality, Muscle Strength, and Motor Coordination in Children With NF1 Effect of Lamotrigine on Cognition in NF1 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Neurofibromatosis Type 1 (NF1) and Tibial Dysplasia Non-invasive Stimulation in Neurofibromatosis Type 1 Modifying Genes in Neurofibromatosis 1 Natural History and Biology of Skin Neurofibromas in Neurofibromatosis Type 1 Vision, Attention and Reading in Neurofibromatosis Type 1 (NF1) Children Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1 Spinal Abnormalities in Neurofibromatosis Type 1 (NF1) Neurofibromatosis Type 1 Patient Registry Frameshift Peptides of Children With NF1 Prevalence of Constitutional Mismatch-repair Deficiency Among Suspected Neurofibromatosis Type 1/Legius Syndrome Children Without a Malignancy and Without a NF1 or SPRED1 Mutation How Neurofibromatosis Type 1 (NF1) Affects Schoolwork and Self-Esteem

Brief Title

Developing Biomarkers of Plexiform Tumor Burden in Patients With Neurofibromatosis-Type 1

Official Title

Developing Novel Biomarkers of Plexiform Neurofibroma Tumor Burden

Brief Summary

      The purpose of this study is to identify tumor biomarkers in individuals with
      Neurofibromatosis type 1 (NF1). Biomarkers are signals that the investigator can measure that
      tell us about a process such as progress of a disease or treatment. Individuals with this
      diagnosis are at an elevated risk of developing a type of tumor called a plexiform
      neurofibroma. Currently, detecting the risk factors of these tumors in children is difficult
      and requires whole body imaging. The NF1 team at Lurie Children's established a way of using
      blood plasma in mice with neurofibromatosis type 1 to identify biomarkers that might signal
      the presence of tumors in people with NF1.

      This study is an effort to create biomarker profiles of patients with NF1 with known tumors.
      The study team will utilize whole-body MRI and mass spectrometry (a method for identifying
      unknown compounds and the properties of molecules). The ultimate goal of this study is to
      better understand the tumor biomarkers in patients with NF1.
    

Detailed Description

      Neurofibromatosis type 1 (NF1) is a common inherited human disorder, with a frequency of
      approximately 1:2500 worldwide. A hallmark of NF1 is development of plexiform neurofibromas
      (PNFs) in 30 to 50% of NF1 patients. Currently, there are no biomarkers of tumor burden and
      whole-body magnetic resonance imaging (MRI) is expensive and limited to few centers. The
      investigator established an unbiased pipeline to identify candidate biomarker signals of
      tumor burden using plasma from neurofibroma-bearing DhhCre;Nf1fl/fl mice using untargeted
      metabolomics. Our preliminary data show that glucosylceramide (GC) is the most significantly
      deregulated compound in plasma from neurofibroma-bearing DhhCre;Nf1fl/fl mice. The
      investigator developed a novel targeted mass spectrometry method to accurately quantify
      multiple elevated GC and lactosylceramide (LC) species. In this proposal, the investigator
      will combine the clinical infrastructure of the NF1 comprehensive program and advance imaging
      at Ann & Robert H. Lurie Children's Hospital of Chicago with the mass spectrometry
      capabilities at Cincinnati Children's Hospital Medical Center.

      Taking advantage of our large, well-characterized, Lurie Children's NF1 population, the
      investigator propose to perform analytical validation studies of candidate GC/LC biomarker
      signature of tumor burden in plasma from NF1 patients with defined numbers of PNF (tumor
      burden) by whole body MRI. The potential outcomes of our study are identification of
      candidate biomarker of tumor burden that contribute to patient risk stratification, and
      analytical validation of GC/LC biomarker signature (context of use). Collectively, this work
      represents a synergistic approach for discovery and validation of biomarkers of tumor burden
      in NF1.
    


Study Type

Observational [Patient Registry]


Primary Outcome

Determine if glucosylceramide (GC) and lactosylceramide (LC) species levels correlate with tumor burden in patients with NF1


Condition

Neurofibromatosis 1



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

200

Start Date

March 4, 2022

Completion Date

June 2026

Primary Completion Date

June 2024

Eligibility Criteria

        Inclusion Criteria:

        1. Individuals with known diagnosis of neurofibromatosis type 1 (NF1)

        Exclusion Criteria:

          1. Patient does not meet NF1 diagnostic criteria

          2. Mosaic NF1 individuals

          3. Pregnant at Screening

          4. Patients who do not have the ability/capacity to undergo the informed consent process
             OR whose parent/legal guardian is unable to undergo the informed consent process.
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Carlos Prada, MD, 312-227-4391, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT05238909

Organization ID

2022-4928

Secondary IDs

1R61NS122094-01

Responsible Party

Principal Investigator

Study Sponsor

Ann & Robert H Lurie Children's Hospital of Chicago

Collaborators

 National Institute of Neurological Disorders and Stroke (NINDS)

Study Sponsor

Carlos Prada, MD, Principal Investigator, Ann & Robert H Lurie Children's Hospital of Chicago


Verification Date

March 2022