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

Mass General Brigham

Status and phase: Invitation-only; Phase 1

Conditions: Neurofibromatosis 1; Neurofibromas, Cutaneous

Treatments: Drug: Kybella

Study type: Interventional

Funder types: Other

Identifiers

NCT06300502

2023P003620

Details and patient eligibility

About

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.

Enrollment: 15 estimated patients

Sex: All

Ages: 18 to 85 years old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Other

Allocation: Randomized

Interventional model: Single Group Assignment

Masking: None (Open label)

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15 participants in 2 patient groups

Treated cutaneous neurofibromas (cNFs)

Active Comparator group

Description:

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

Treatment:

Drug: Kybella

Control cutaneous neurofibromas (cNFs)

No Intervention group

Description:

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.