neurofibromatosis 1
Information
- Disease name
- neurofibromatosis 1
- Disease ID
- DOID:0111253
- Description
- "A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone." [url:https\://pubmed.ncbi.nlm.nih.gov/34012067/, url:https\://pubmed.ncbi.nlm.nih.gov/35698197/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04481035 | Active, not recruiting | Phase 2 | Antioxidant Therapy With N-acetylcysteine for Learning and Motor Behavior in Children With Neurofibromatosis Type 1 | January 15, 2019 | January 1, 2026 |
| NCT04924608 | Active, not recruiting | Phase 3 | Efficacy and Safety of Selumetinib in Adults With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas | November 19, 2021 | March 17, 2025 |
| NCT04590235 | Active, not recruiting | Phase 1 | A Study of Selumetinib in Chinese Paediatric and Adult Subjects With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas (PN) | December 16, 2020 | August 31, 2026 |
| NCT03820778 | Active, not recruiting | N/A | Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1 | July 12, 2018 | August 1, 2022 |
| NCT01362803 | Active, not recruiting | Phase 1/Phase 2 | AZD6244 Hydrogen Sulfate for Children With Nervous System Tumors | September 21, 2011 | January 1, 2030 |
| NCT04954001 | Active, not recruiting | Phase 1/Phase 2 | Study to Evaluate the Safety, Tolerability, PK Characteristics and Anti-tumor Activity of FCN-159 in Adult and Pediatric Participants With Neurofibromatosis Type 1 | March 26, 2021 | March 30, 2025 |
| NCT03741101 | Active, not recruiting | Phase 2 | Treatment of NF1-related Plexiform Neurofibroma With Trametinib | June 10, 2019 | December 15, 2024 |
| NCT02332902 | Completed | Phase 2 | Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T | February 2015 | March 2016 |
| NCT00846430 | Completed | Phase 2 | Medical Treatment of "High-Risk" Neurofibromas | October 2008 | May 2017 |
| NCT03090971 | Completed | Phase 2 | Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1 | February 15, 2017 | June 30, 2017 |
| NCT03298438 | Completed | Study About Annoucement of the Diagnosis of Neurofibromatosis 1 in de Novo Forms | July 15, 2016 | December 31, 2016 | |
| NCT03310996 | Completed | N/A | Non-invasive Stimulation in Neurofibromatosis Type 1 | October 13, 2017 | June 30, 2018 |
| NCT03433183 | Completed | Phase 2 | SARC031: MEK Inhibitor Selumetinib (AZD6244) in Combination With the mTOR Inhibitor Sirolimus for Patients With Malignant Peripheral Nerve Sheath Tumors | October 2, 2019 | October 1, 2023 |
| NCT03531814 | Completed | N/A | Medication Adherence in Children, Adolescents and Adults With Neurofibromatosis Type 1(NF1) on Clinical Treatment Trials | October 23, 2018 | March 20, 2023 |
| NCT04774289 | Completed | Incidence of Malignant Peripheral Nerve Sheath Tumor (MPNST) Development in Participants With Neurofibromatosis Type 1 (NF1) Receiving and Not Receiving Medical Therapies Directed at Plexiform Neurofibromas (PN) | February 24, 2021 | December 8, 2022 | |
| NCT05196854 | Completed | N/A | Clinical Hypnosis and Home Blood Pressure Monitoring in Children With Neurofibromatosis Type 1 | May 25, 2022 | April 24, 2023 |
| NCT04879160 | Completed | Systematically Assessing Changes in Plexiform Neurofibroma Related Disfigurement From Photographs of Subjects With Neurofibromatosis Type 1 on a Phase 2 Clinical Trial | May 12, 2021 | August 15, 2022 | |
| NCT00352599 | Completed | Phase 1 | Trial to Evaluate the Safety of Lovastatin in Individuals With Neurofibromatosis Type I (NF1) | September 2009 | March 2014 |
| NCT04991428 | Completed | N/A | Mechanism of Action of Transcranial Direct Current Stimulation in Neurofibromatosis Type 1 | February 22, 2019 | February 19, 2020 |
| NCT05005845 | Completed | Phase 2 | NFX-179 Topical Gel Treatment for Adults With Neurofibromatosis 1 (NF1) and Cutaneous Neurofibromas (cNF) | September 20, 2021 | October 4, 2023 |
| NCT02153931 | Completed | Internet Support Group for Parents of a Child With Neurofibromatosis Type 1 | May 31, 2014 | January 29, 2019 | |
| NCT00076102 | Completed | Phase 2 | Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas | July 21, 2004 | April 1, 2010 |
| NCT04435665 | Completed | Phase 2 | NFX-179 Topical Gel Treatment in Adults With Neurofibromatosis 1 (NF1) and Cutaneous Neurofibromas (cNF) | August 21, 2020 | April 14, 2021 |
| NCT01776125 | Completed | Genetic Evaluation of NF1 and Scoliosis Patients | August 2010 | August 2015 | |
| NCT04561765 | Completed | N/A | Innovation in the Treatment of Persistent Pain in Adults With NF1: Implementation of the iCanCope Mobile Application- Clinical Trial | March 1, 2021 | September 6, 2022 |
| NCT05377008 | Completed | N/A | Intervention Effectiveness on the Neurocognitive Functioning of Children and Adolescents With Neurofibromatosis Type 1 | May 13, 2022 | May 5, 2023 |
| NCT03826940 | Completed | N/A | From Molecules to Cognition: Inhibitory Mechanisms in ASD and NF1 | February 19, 2019 | August 31, 2020 |
| NCT06222203 | Not yet recruiting | Surveillance for Malignant Transformation of Neurofibromatosis Type 1 (NF1) Related Peripheral Nerve Sheath Tumors (PNST) | June 23, 2024 | December 31, 2035 | |
| NCT06262113 | Not yet recruiting | N/A | A Decentralized Clinical Trial to Promote Evidence-Based Care for Underserved Patients With Neurofibromatosis 1 | November 2024 | August 2026 |
| NCT06188741 | Not yet recruiting | Phase 2 | Selumetinib for the Prevention of Plexiform Neurofibroma Growth in NF Type 1 | August 1, 2024 | August 1, 2031 |
| NCT06300502 | Not yet recruiting | Phase 1 | Assessing the Efficacy of Repeat, Monthly Treatments of Cutaneous Neurofibromas (cNFs) | June 2024 | December 2025 |
| NCT06360406 | Not yet recruiting | Real-World Treatment Study of Koselugo (Selumetinib) | June 1, 2024 | September 30, 2031 | |
| NCT06379230 | Recruiting | A Retrospective Study on Epidemiological Characteristics of Chinese NF1 Patients in Real World (PROMISE) | January 1, 2019 | February 28, 2025 | |
| NCT01885767 | Recruiting | Neurofibromatosis (NF) Registry Portal | June 2012 | June 2050 | |
| NCT02544022 | Recruiting | Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (pNFs) | November 13, 2015 | December 30, 2025 | |
| NCT02728388 | Recruiting | Phase 2 | Photodynamic Therapy for Benign Dermal Neurofibromas- Phase II | August 2016 | December 2025 |
| NCT04395495 | Recruiting | RASopathy Biorepository | June 27, 2017 | December 2065 | |
| NCT04481048 | Recruiting | Phase 2 | Antioxidant Therapy With N-acetylcysteine for Children With Neurofibromatosis Type 1 | December 15, 2020 | December 2024 |
| NCT04750928 | Recruiting | Phase 1/Phase 2 | Cyclin-Dependent Kinase (CDK)4/6 Inhibitor Abemaciclib for Neurofibromatosis Type I (NF1) Related Atypical Neurofibromas | November 29, 2021 | December 1, 2026 |
| NCT04941027 | Recruiting | Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1 | May 7, 2021 | June 30, 2024 | |
| NCT05581511 | Recruiting | Natural History Study of Cutaneous Neurofibromas in People With NF1 | June 28, 2021 | June 30, 2028 | |
| NCT05677594 | Recruiting | Multi-parametric Biomarker Development to Predict Malignant Conversion in Patients With Neurofibromatosis Type 1 | July 1, 2021 | June 30, 2026 | |
| NCT05735717 | Recruiting | Phase 2 | MT2021-08T Cell Receptor Alpha/Beta Depletion PBSC Transplantation for Heme Malignancies | May 11, 2023 | November 30, 2030 |
| NCT05849662 | Recruiting | Phase 1/Phase 2 | A Phase I/II Study of Trametinib and Azacitidine for Patients With Newly Diagnosed Juvenile Myelomonocytic Leukemia | May 10, 2024 | December 2029 |
| NCT05912400 | Recruiting | Evaluating Mitochondrial Dysfunction in Patients With Neurofibromatosis Type 1 | July 26, 2023 | July 2026 | |
| NCT05913037 | Recruiting | Phase 3 | FCN-159 in Adult Patients With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform Neurofibromas | June 20, 2023 | June 30, 2026 |
| NCT06120036 | Recruiting | Phase 1 | Dosing and Tolerability of Deoxycholic Acid Versus Polidocanol in the Treatment of Neurofibromatosis Type 1 Cutaneous Neurofibromas | December 6, 2022 | September 30, 2024 |
| NCT06132165 | Recruiting | Phase 1 | Efficacy of Skin Cooling in Reducing Pain Associated With Non-invasive Treatments of Neurofibromatosis Type 1 Cutaneous Neurofibromas | March 1, 2024 | October 31, 2024 |
| NCT05238909 | Recruiting | Developing Biomarkers of Plexiform Tumor Burden in Patients With Neurofibromatosis-Type 1 | March 4, 2022 | June 2026 | |
| NCT05331105 | Recruiting | Phase 2 | HL-085 in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas | October 18, 2021 | October 31, 2028 |
| NCT05361811 | Recruiting | N/A | Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial | January 10, 2024 | October 1, 2024 |
| NCT05363267 | Recruiting | Phase 1 | NF-1, Nutraceutical Intervention | July 6, 2022 | August 2025 |
| NCT01650142 | Unknown status | Modifying Genes in Neurofibromatosis 1 | May 2012 | September 2015 | |
| NCT03981510 | Unknown status | N/A | Comparison of Gastrointestinal Motility in Healthy Children and Children With Constipation | June 13, 2019 | December 2023 |
| NCT03406208 | Unknown status | N/A | Resiliency Training for Adults With Neurofibromatosis Via Live Videoconferencing | October 1, 2017 | January 30, 2022 |
| NCT04860362 | Unknown status | N/A | Pilot Randomized Control Trial of Telehealth Group for Improving Peer Relationships (PEERS) in NF1 | January 29, 2021 | August 2022 |
| NCT02680431 | Unknown status | Analysis of Plasma for Diagnosis and Follow-up of Neurofibromatosis Type 1 | January 2016 | December 2020 | |
| NCT04856514 | Unknown status | N/A | Open Trial of Telehealth Group for Improving Peer Relationships (PEERS) in NF1 | December 5, 2020 | July 2021 |
| NCT01777451 | Unknown status | Whole Body Magnetic Resonance Imaging With Diffusion Weighted Imaging : Potential Role in Neurofibromatosis | December 2010 | January 2014 | |
| NCT03109301 | Withdrawn | Phase 2 | Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST) | April 7, 2017 | March 27, 2019 |
- Disase is a (Disease Ontology)
- DOID:8712
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q85.01
- Cross Reference ID (Disease Ontology)
- ICD9CM:237.71
- Cross Reference ID (Disease Ontology)
- MESH:D009456
- Cross Reference ID (Disease Ontology)
- MIM:162200
- Cross Reference ID (Disease Ontology)
- NCI:C3273
- Cross Reference ID (Disease Ontology)
- ORDO:636
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:92824003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0027831
- Exact Synonym (Disease Ontology)
- neurofibromatosis type I
- Exact Synonym (Disease Ontology)
- NF1
- Exact Synonym (Disease Ontology)
- Peripheral Neurofibromatosis
- Exact Synonym (Disease Ontology)
- Recklinghausen's neurofibromatosis
- Exact Synonym (Disease Ontology)
- von Recklinghausen Disease
- MeSH unique ID (MeSH (Medical Subject Headings))
- D009456