Assessing the Efficacy of Repeat, Monthly Treatments of Deoxycholate for NF1 Associated Cutaneous Neurofibromas (cNFs)

Phase 1Enrolling By InvitationNCT06300502

Massachusetts General Hospital15 enrolled

Overview

The goal of this clinical trial is to evaluate the tolerability and effectiveness of multiple treatments of an FDA-approved drug in those with Neurofibromatosis Type 1 (NF1) Cutaneous Neurofibromas (cNFs). The main questions it aims to answer are: Will performing: * Up to 6 months treatment sessions * A minimum of 30 days apart * With up to 50 injections of deoxycholate into a maximum of 50 cNFs in a single region of the body (for a maximum total dose of 10 mL per monthly treatment session) result in tolerable local skin reactions and reduction in both individual cNF size by \>50% as well as improved cNF appearance in the treated field? Researchers will compare treated tumors and control tumors to see if the treatment is effective. Participants will: * Receive up to 6 monthly treatments with Kybella (deoxycholate). Treatment for a given tumor will be stopped when the tumor is assessed as clear clinically. * Complete surveys asking about pain during and after treatments. * Complete surveys asking about satisfaction with the treatments. * Undergo 2D photography and 3D imaging of treatment areas. * Optionally, receive biopsies of up to 6 treated lesions to investigate characteristics of tumors that respond well to treatment as well as non-respondent tumors.

Study Type

INTERVENTIONAL

Allocation

RANDOMIZED

Purpose

OTHER

Masking

NONE

Enrollment

Conditions

Neurofibromas, Cutaneous Neurofibromatosis 1

Eligibility

Sex: ALLMin age: 18 YearsMax age: 85 Years

Medical Language ↔ Plain English

Inclusion Criteria: 1. Participant is an adult ≥18 years of age. 2. Participant has a diagnosis of NF1 based on germline genetic testing or by meeting ≥ 2 the following criteria: * Family history of NF1, * Six or more light brown ("cafe-au-lait") spots on the skin, * Presence of two or more neurofibromas of any type, or one or more plexiform neurofibromas, * Freckling under the arms or in the groin area, * Two or more pigmented, benign bumps on the eye's iris (Lisch nodules), * A distinctive bony lesion: dysplasia (abnormal growth) of the sphenoid bone behind the eye, or dysplasia of long bones, often in the lower leg, * Tumor on the optic nerve that may interfere with vision. 3. Participant is seeking treatment for cNF. 4. Participant has ≥ 6 paired cNF that are visible and measure 2 mm or more in size. The target treatment area must be amenable to both deoxycholate injections and surveillance with digital and 3D photography. Preferred locations are trunk (back or chest), arms and legs. 5. Participant is able and willing to comply with all visit, treatment and evaluation schedules and requirements. 6. Participant is able to understand and provide written informed consent. 7. Participant has no known allergy to deoxycholate. 8. Participant has no concurrent injury or wound in the target area. Exclusion Criteria: 1. Participant cannot give informed consent or adhere to study schedule. 2. Participant is actively tanning during the course of the study. 3. Participant has a known allergy to deoxycholic acid. 4. For female participants: those who are pregnant. 5. Participant has any condition which, in the Investigator's opinion, would make it unsafe (for the participant or study personnel) to treat the participant as part of this research study.

Outcomes

Primary Outcomes

Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]

Treatment will be considered tolerable if \<40% of participants treated have a \>grade 2 CTCAE v5 adverse event (AE).

Time frame: 3 months after treatment

Secondary Outcomes

Patient Reported Outcomes

Using questionnaires we will determine the patients' reported outcomes. Patient Global Assessment: Patient rates degree of change of treated and control cNFs on a scale from -3 (no change) to 3 (very large improvement).