Dosing and Tolerability of Deoxycholic Acid Vs. Polidocanol in the Treatment of Neurofibromatosis Type 1 Cutaneous Neurofibromas

Dosing and Tolerability of Deoxycholic Acid Versus Polidocanol in the Treatment of Neurofibromatosis Type 1 Cutaneous Neurofibromas

This study will evaluate the tolerability and effectiveness of two treatments in Neurofibromatosis Type 1 Cutaneous Neurofibromas. These treatments are: Kybella and Asclera injection. Each patient will have a treatment and a control site.

Study Overview

• Status: Completed
• Conditions: Neurofibromatosis 1
• Intervention / Treatment: Drug: Kybella; Drug: Asclera

• Study Type: Interventional
• Enrollment (Actual): 20
• Phase: Phase 1

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Wellman Center for Photomedicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

1. Adult males and females ≥18 years of age

2. Have a diagnosis of NF1 based on germline genetic testing or by meeting ≥ 2 the following criteria:

   1. Family history of NF1
   2. Six or more light brown ("cafe-au-lait") spots on the skin
   3. Presence of two or more neurofibromas of any type, or one or more plexiform neurofibromas
   4. Freckling under the arms or in the groin area
   5. Two or more pigmented, benign bumps on the eye's iris (Lisch nodules)
   6. A distinctive bony lesion: dysplasia (abnormal growth) of the sphenoid bone behind the eye, or dysplasia of long bones, often in the lower leg
   7. Tumor on the optic nerve that may interfere with vision
3. Patients must be seeking treatment for cNF
4. Patients must have ≥ 6 paired cNF per modality (3 treated and 3 untreated). cNF should be visible and measure between 2-8mm in size. These must be in areas amenable to treatment and surveillance with digital photography.
5. cNF must be located on the trunk, arms or legs of the patient
6. Able and willing to comply with all visit, treatment and evaluation schedules and requirements
7. Able to understand and provide written informed consent

Exclusion Criteria:

1. Patients who are undergoing other treatment modalities or investigational agents for their cNF lesions
2. Individuals who cannot give informed consent or adhere to study schedule
3. Actively tanning during the course of the study
4. Adverse reactions to compounds of any external agent (e.g., gels, lotions or anesthetic creams) required for use in the study, if no alternative to the said agent exists;
5. Known allergy to injectable anesthetics, polidocanol or deoxycholic acid
6. Those with acute thromboembolic diseases
7. Those with bleeding abnormalities or those who are currently being treated with antiplatelet or anticoagulant therapy
8. Those with dysphagia
9. Women who are pregnant
10. 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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Active Comparator: Kybella Injection	Drug: Kybella; Injection into the cutaneous Neurofibromas lesion.
Active Comparator: Asclera Injection	Drug: Asclera; Injection into the cutaneous Neurofibromas lesion.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]	Device based treatment will be considered tolerable if <40% of participants treated have a >grade 2 adverse event (AE). A grade 2 AE is defined as an adverse event that requires treatment.	3 months after treatment

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Treatment specific patient reported outcomes (PRO)	NRS11, modality specific satisfaction assessment	Baseline, 1 day after treatment, 1 week after treatment, 1 month after treatment, 2 months after treatment, 3 months after treatment, 6 months after treatment, 12 months after treatment
Clinician reported outcomes (ClinRO)	Clinician assessment of cNF via questionnaire. Physician rates degree of change of treated and control cNFs on a scale from -3 (no change) to 3 (very large improvement).	Baseline, 3 months after treatment, 6 months after treatment, 12 months after treatment
Modified SkinDex for cNF	Health-related quality of life measure. Asks how much participants have been bothered by cNFs over the past week from 0 (never bothered) to 5 (always bothered).	Baseline, 3 months after treatment, 6 months after treatment, 12 months after treatment

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
cNF appearance	Clinically completed 2D and 3D photography Cherry Imaging.	Baseline, 3 months after treatment, 6 months after treatment, and 12 months after treatment
Rate of healing	Measured clinically via photography completed by a member of the study team at baseline, 3-month, 6-month, and 12-month post-treatment.	Baseline, 3 months after treatment, 6 months after treatment, and 12 months after treatment
Biologic effect	Degree of tissue necrosis on skin lesion biopsy at 3 months as assessed by review of area of necrosis in histology slides.	3 months after treatment

Collaborators and Investigators

• Sponsor: Massachusetts General Hospital
• Collaborators: Johns Hopkins University
• Investigators: Principal Investigator: Richard R Anderson, MD, Massachusetts General Hospital

Study record dates

Study Major Dates

• Study Start (Actual): December 6, 2022
• Primary Completion (Actual): January 9, 2025
• Study Completion (Actual): January 9, 2025

Study Registration Dates

• First Submitted: November 1, 2023
• First Submitted That Met QC Criteria: November 1, 2023
• First Posted (Actual): November 7, 2023

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: February 19, 2025
• Last Verified: February 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Neoplasms; Neuromuscular Diseases; Genetic Diseases, Inborn; Peripheral Nervous System Diseases; Neoplasms by Histologic Type; Neurodegenerative Diseases; Neoplasms, Nerve Tissue; Nervous System Neoplasms; Heredodegenerative Disorders, Nervous System; Nerve Sheath Neoplasms; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Peripheral Nervous System Neoplasms; Neurofibromatoses; Neurofibromatosis 1; Neurofibroma; Gastrointestinal Agents; Cholagogues and Choleretics; Deoxycholic Acid
• Other Study ID Numbers: 2022P001946

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: Yes