Analysis of Plasma for Diagnosis and Follow-up of Neurofibromatosis Type 1

Learn more about:
Related Clinical Trial
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

Analysis of Plasma for Diagnosis and Follow-up of Neurofibromatosis Type 1

Official Title

Analysis of Plasma for Diagnosis and Follow-up of Neurofibromatosis Type 1

Brief Summary

      The purpose of this study is to find blood plasma based biomarkers of disease progression in
      neurofibromatosis type 1 (NF1). NF1 is associated with the development of benign cutaneous
      tumors as well as a variety of malignancies. Analysis of plasma DNA and chemical composition
      may provide tools for diagnosis and follow-up of NF1. The hypothesis of the study is that
      NF1-associated tumor burden and malignant transformation of tumors can be detected in plasma.
      To test this hypothesis, Finnish patients with NF1 are recruited and blood sample is taken.
      Blood plasma is separated and analyzed chemically. DNA is then also extracted and quantified.
    

Detailed Description

      Neurofibromatosis type 1 (NF1) is a dominant hereditary multiorgan disease that causes both
      benign cutaneous neurofibromas and malignant tumors. Timely detection of malignant
      transformation in NF1 tumors is of great clinical importance. Also methods to easily monitor
      individual's overall tumor burden would be useful. Blood plasma is collected from NF1
      patients and age- and gender-matched controls. The samples are stored at -80 C until
      analysis. Free circulating plasma DNA is extracted and quantified using commercial reagents.
      Also a previously described chemical detection method to observe overall changes in plasma
      composition is utilized. The analysis results are compared between NF1 patients and healthy
      controls, and also correlated with NF1 tumor burden and diagnosis of malignancy during
      five-year follow-up.
    


Study Type

Observational


Primary Outcome

Ability of free circulating plasma DNA concentration and unspecific chemical detection method to predict overall tumor burden


Condition

Neurofibromatosis 1

Intervention

Blood sample

Study Arms / Comparison Groups

 Neurofibromatosis 1
Description:  10 mL venous blood sample taken from patients with type 1 neurofibromatosis

Publications

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

Recruitment Information


Recruitment Status

Other

Estimated Enrollment

100

Start Date

January 2016

Completion Date

December 2020

Primary Completion Date

December 2020

Eligibility Criteria

        Inclusion Criteria:

          -  Finnish-speaking

          -  18-85 years old

          -  For NF1 group: Diagnosis of type 1 neurofibromatosis and visit to Turku
             Neurofibromatosis Centre

          -  For control group: Suitable as an age- and gender-matched control for some of the NF1
             patients

        Exclusion Criteria:

          -  Non-Finnish-speaking

          -  For control group: diagnosis of neurofibromatosis type 1 or cancer
      

Gender

All

Ages

18 Years - 85 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Juha Peltonen, Professor, , 



Administrative Informations


NCT ID

NCT02680431

Organization ID

141-1801-2015


Responsible Party

Sponsor-Investigator

Study Sponsor

Juha Peltonen


Study Sponsor

Juha Peltonen, Professor, Principal Investigator, University of Turku


Verification Date

February 2016