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

NCT06300502 | Enrolling By Invitation Phase 1 FDA Drug

• 1 other identifier: 2023P003620
• Study Type: interventional
• Target: 15
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Neurofibromas, Cutaneous; Neurofibromatosis 1

Outcome Measures

Primary Outcomes (1)

• 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).

  3 months after treatment

Secondary Outcomes (7)

• Patient Reported Outcomes

  Baseline, after treatment session #4, and at 3 months after final treatment.

• Clinician Reported Outcomes

  Baseline, after treatment session #4, and at 3 months after final treatment.

• VAS Pain Scale

  Baseline, after each treatment session, 1 week after each treatment session, and 3 months after final treatment.

• Patient Satisfaction

  Baseline, after treatment session #4, and at 3 months after final treatment.

• Rate of Healing

  Baseline, 1 month, 2 months, 3 months, 4 months, 5 months, 6 months after baseline; 3 months after final treatment.

Other Outcomes (1)

• Biologic Effect/Histology

  3 months after final treatment session.

Study Arms (2)

Treated cutaneous neurofibromas (cNFs)

ACTIVE COMPARATOR

Injection into up to 50 cutaneous Neurofibromas (for at total maximum of 10 mL injected) with Kybella (1% deoxycholic acid).

Drug: Kybella

Control cutaneous neurofibromas (cNFs)

NO INTERVENTION

A complementary region of cNFs of similar characteristics to the treatment area in the same body region will be selected to serve as an untreated control group.

Interventions

Kybella DRUG

Kybella is sterile 1% deoxycholic acid provided in a 2 mL single-use vial.

Also known as: Deoxycholate, Deoxycholic acid

Treated cutaneous neurofibromas (cNFs)

Eligibility Criteria

• Age: 18 Years - 85 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Participant is an adult ≥18 years of age.
• 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.
• Participant is seeking treatment for cNF.
• 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.
• Participant is able and willing to comply with all visit, treatment and evaluation schedules and requirements.
• Participant is able to understand and provide written informed consent.
• Participant has no known allergy to deoxycholate.
• Participant has no concurrent injury or wound in the target area.

You may not qualify if:

• Participant cannot give informed consent or adhere to study schedule.
• Participant is actively tanning during the course of the study.
• Participant has a known allergy to deoxycholic acid.
• For female participants: those who are pregnant.
• 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.

Sponsors & Collaborators

• Massachusetts General Hospital: lead
• Johns Hopkins University: collaborator

Study Sites (1)

Wellman Center for Photomedicine

Boston, Massachusetts, 02114, United States

Location

MeSH Terms

Conditions

Neurofibroma; Neurofibromatosis 1

Interventions

Deoxycholic Acid

Condition Hierarchy (Ancestors)

Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Neoplasms; Peripheral Nervous System Neoplasms; Nervous System Neoplasms; Nervous System Diseases; Peripheral Nervous System Diseases; Neuromuscular Diseases; Neurofibromatoses; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Cholic Acids; Bile Acids and Salts; Steroids; Fused-Ring Compounds; Polycyclic Compounds; Cholanes

Study Officials

• Richard R Anderson, MD

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: February 13, 2024
• First Posted: March 8, 2024
• Study Start: April 8, 2025
• Primary Completion (Estimated): February 1, 2027
• Study Completion (Estimated): February 1, 2027
• Last Updated: April 22, 2026

Record last verified: 2026-04

Locations

US (1)