Neoplasms

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Skin and Connective Tissue Diseases

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Neurofibromatoses

Neurofibromatosis 1

Neurofibroma

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Neoplasms, Nerve Tissue

Neoplasms by Histologic Type

Nervous System Neoplasms

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Syndrome

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Neurocutaneous Syndromes

Heredodegenerative Disorders, Nervous System

Neurodegenerative Diseases

Genetic Diseases, Inborn

Neurofibromatosis

Neurofibromatosis Type 1

All Drugs and Chemicals

Immunomodulating Agents

Adjuvants, Immunologic

DPCP

Nicholas Gulati, MD, PhD

Rebecca Brown, MD, PhD

Neurofibromatosis type 1 (NF1) is the most common genetic tumor predisposition syndrome, affecting up to 1 in 2500 individuals. Cutaneous neurofibromas are benign with self-limited growth; however, tumor burden may be excessive, tumors do not regress, and they can be disfiguring, painful, and itchy. Currently, the only treatment is surgery or laser ablation; however, outcomes are limited by the number of tumors that can be simultaneously removed, operating room availability, and painful recovery, with significant risk of regrowth. There is a strong need for noninvasive topical treatments for cutaneous neurofibromas. Diphencyprone (DPCP) is a "hapten" medication, a small molecule that activates the immune system when applied topically, which has been investigated as a cutaneous immunotherapy for other skin conditions.

This is an open label Phase I study looking at safety and tolerability of this treatment as a primary endpoint, and tumor treatment as a secondary endpoint. Approximately 30 subjects will be enrolled at a single center within the US. Subjects with a clinical diagnosis of NF1 who have measurable disease and at least 4 cutaneous neurofibromas, will have DPCP applied topically to their neurofibromas once weekly for 10 weeks.

Each subject after consent will undergo a biopsy of one cutaneous neurofibroma prior to treatment. The participant will then undergo a sensitization treatment to "normal" skin as well as one neurofibroma to activate the immune system against the trial drug. 14 days after sensitization, patients will begin the first of 10 weekly treatment doses to a minimum of 3, up to 20 cutaneous neurofibromas. The participant may require up to 2 additional sensitization exposures. When the investigator has determined that sensitization has occurred, each subject will have a skin biopsy of one treated neurofibroma 3 days after initial treatment on Day 17 in order to investigate cellular and molecular effects of the treatment. The remainder of treatments will be applied once weekly on days 21, 28, 35, 42, 49, 56, 63, 70, and 77. The followup visit will occur on Day 107. Tumors will be photographed at screening and at each treatment visit, and in addition, whole body photography will be performed on Day 0 and Day 107 to assess for off-target effects on cutaneous neurofibromas that were not directly treated. On Day 107, a third cutaneous neurofibroma will be biopsied for molecular and immunohistopathological outcomes.

DPCP to Treat Cutaneous Neurofibromas Associated With NF1

A Phase I, Open Label Study Employing the Topical Immunomodulator Diphencyprone to Treat Cutaneous Neurofibromas Associated With NF1

Individual participant data that underlie the results reported in this article, after deidentification (text, tables, figures, and appendices).

Safety of DPCP will be measured as the proportion of subjects with a grade 3 on the Common Terminology Criteria for Adverse Events (CTCAE) criteria. Specifically, the safety of DPCP will be assessed as per CTCAE for eczema, version 5.0.

Tolerability of DPCP will be measured by the subjective response of patients who experience symptoms directly related to the therapy. Specifically, the subject will report their own symptoms of local tolerability based on a standardized assessment scale. The subject will assess pain, stinging, burning, and pruritus using a 4-point scale (0 none, 1 mild, 2 moderate, 3 severe) for each treated target lesion. Each of the four domains will be graded on the 4-point scale, each domain range from 0-16, with higher score indicating more severe symptoms. There is no overall score.

Nicholas Gulati

Assistant Professor

Ear, Nose, and Throat Diseases

Neurofibromatosis 2

Neuroma

Neuroma, Acoustic

Neurilemmoma

Neuroendocrine Tumors

Neuroectodermal Tumors

Neuroectodermal Tumors, Primitive

Neoplasms, Germ Cell and Embryonal

Vestibulocochlear Nerve Diseases

Retrocochlear Diseases

Ear Diseases

Otorhinolaryngologic Diseases

Otorhinolaryngologic Neoplasms

Cranial Nerve Diseases

Neurofibromatosis Type 2

Schwannomatosis

Schwannoma

Neuroendocrine Tumor

Neuroepithelioma

Patients meeting clinical and/or genetic criteria for Neurofibromatosis 1

Patients meeting clinical and/or genetic criteria for Neurofibromatosis 2

Patients meeting clinical and/or genetic criteria for Schwannomatosis

Kate Kelts, B.S.N.

Annette Bakker, Ph.D.

The NF Registry is a database of patient-reported symptoms, treatments, and experiences with their neurofibromatosis disease. It is a contact registry to relay clinical trial opportunities to targeted patient subgroups, and to supply de-identified disease data to researchers. It has the potential to become a natural history resource.

Patients and parents of patients will be made aware of the Neurofibromatosis (NF) Registry through various non-commercial information sources such as the Children's Tumor Foundation (CTF) website, CTF-affiliated NF clinics, social media, CTF educational and fundraising events, and other nonprofit organizations and foundations such as the National Organization for Rare Diseases (NORD) and social media.

The NF Registry will be accessed by individual adult (over age 18) subjects via a web-based patient portal. The portal contains an IRB-approved informed consent form. Following consent, the registrant creates an account which is activated after email confirmation. An account can be created by an adult patient with the disorder, or by the parent or guardian of a child with the disorder. Account creators are required to enter identifiable contact and demographic data.

After the account is created, the account owner enrolls themselves or a minor family member (or both) and completes an on-line survey. There are separate surveys for NF1, NF2, and Schwannomatosis. The surveys ask about about the affected individual's medical and family history of the disease, testing and diagnosis, clinical manifestations (e.g., tumor types and locations) interventions and therapies, and quality of life. The account holder chooses whether to receive emails from the Registry with information about relevant clinical trials and studies for which they may be eligible.

Participant's responses are used to compile charts and graphics of de-identified aggregate data. Registered patients may view this data. Researchers may apply to our Data Use Committee for access to de-identified data or for subject recruitment emails to be sent to specific patient subgroups. Data capture and security for the NF Registry is done under contract by OpenApp (Dublin, Ireland), a web-based patient opt-in registry provider.Participants will be asked to update their information at least once a year. Their information will be stored in the NF Registry for an indefinite period of time. This longitudinal study is intended as a resource for patients and researchers. There is no specific outcome measure or anticipated endpoint.

Neurofibromatosis (NF) Registry Portal

Neurofibromatosis (NF) Registry Portal Funded by Children's Tumor Foundation

patients will input medical information and treatment information about their NF and update at least yearly in an ongoing natural history study

The Children's Tumor Foundation

Kimberly J Johnson, PhD

The Neurofibromatosis Type 1 (NF1) Patient Registry Initiative (NPRI) is a web-based registry that asks participants to fill out a 30-minute online questionnaire to collect information about the spectrum of medical and social problems experienced by children and adults with NF1. The information gained from your participation may one day help doctors develop personalized treatments for individuals living with NF1.

We are currently enrolling individuals with NF1 who either (1) HAVE previously been diagnosed with a brain tumor younger than 18 years or (2) HAVE NEVER had a brain tumor. Please note: there is no therapy associated with this study. Individuals may participate in the registry by going to https://nf1registry.wustl.edu/

Neurofibromatosis Type 1 Patient Registry

Washington University School of Medicine

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
DPCP to Treat Cutaneous Neurofibromas Associated With NF1	NCT05438290	Cutaneous Neuro...	DPCP	18 Years -	Icahn School of Medicine at Mount Sinai
Neurofibromatosis (NF) Registry Portal	NCT01885767	Neurofibromatos... Neurofibromatos... Schwannomatosis		-	The Children's Tumor Foundation
DPCP to Treat Cutaneous Neurofibromas Associated With NF1	NCT05438290	Cutaneous Neuro...	DPCP	18 Years -	Icahn School of Medicine at Mount Sinai
Neurofibromatosis Type 1 Patient Registry	NCT01410006	Neurofibromatos...		-	Washington University School of Medicine
Neurofibromatosis Type 1 Patient Registry	NCT01410006	Neurofibromatos...		-	Washington University School of Medicine

Spots Global Cancer Trial Database for nf

Every month we try and update this database with for nf cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Spots Global Cancer Trial Database for nf

Every month we try and update this database with for nf cancer trials from around the world to help patients and their families find trials that might be right for them. We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Every month we try and update this database with for nf cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.