Registry for patients with neurocutaneous melanocytosis and large cutaneous nevi

Prospective Registry of Patients With Neurocutaneous Melanocytosis (NCM) Including Cutaneous and CNS Involvement

This study is collecting information from people of all ages who have large skin moles or neurocutaneous melanocytosis to understand their medical care and any related health issues.

Quick facts

• Study type: Observational
• Enrollment: 100 (estimated)
• Sex: All
• Sponsor: Memorial Sloan Kettering Cancer Center (other)
• Locations: 2 sites (Boston, Massachusetts and 1 other locations)
• Trial ID: NCT04548817 on ClinicalTrials.gov

What this trial studies

This observational registry collects information on patients diagnosed with large cutaneous melanocytic nevi (LCMN) or neurocutaneous melanocytosis (NCM). It aims to gather data regarding the regular medical care these patients receive, including their clinical presentations and any associated conditions. The study includes patients of all ages and allows for the inclusion of deceased patients under specific conditions. The registry does not require mandatory pathology reviews for diagnosis confirmation if characteristic skin lesions are present.

Who should consider this trial

Good fit: Ideal candidates include individuals of any age with diagnosed LCMN or NCM, including those with associated CNS melanocytosis.

Not a fit: Patients without LCMN or NCM, or those who do not meet the inclusion criteria, may not benefit from this registry.

Why it matters

Potential benefit: If successful, this registry could enhance understanding and management of neurocutaneous melanocytosis and related conditions, leading to improved patient care.

How similar studies have performed: While this registry approach is not widely tested, similar observational studies have successfully contributed to understanding rare conditions.

Eligibility criteria

Inclusion Criteria:

* Patients with LCMN, defined as:

  * Dark-colored patch of skin present at birth
  * Can be located anywhere on the individual's skin
  * May include satellite lesions
  * May be associated with hypertrichosis

OR, in absence of cutaneous involvement:

* histologically or radiographically confirmed CNS melanocytosis.

  * Any age at diagnosis.
  * Signed informed consent by a patient, or parent/legal guardian.
  * Deceased patients can be included provided that parent/legal guardian is contacted at least 6 months after the death of the child and not on the child's birthday or anniversary of death.

Pathology review at MSK is not mandatory to confirm the diagnosis of LCMN or NCM. We will not require pathology analysis of leptomeningeal deposits in patients where characteristic skin lesions are present and melanosis of the meninges is radiographically evident. However, if pathology samples have already been obtained as part of a patient's evaluation and treatment at another institution, tissue samples will be requested for review and confirmation of the diagnosis.

Exclusion Criteria:

* Informed consent has not been provided.

Where this trial is running

Boston, Massachusetts and 1 other locations

• Boston Children's Hospital (Data Analysis Only) — Boston, Massachusetts, United States (NOT_YET_RECRUITING)
• Memorial Sloan Kettering Cancer Center (All Protocol Activities) — New York, New York, United States (RECRUITING)

Study contacts

• Principal investigator: Yasmin Khakoo, MD — Memorial Sloan Kettering Cancer Center
• Study coordinator: Yasmin Khakoo, MD

Conditions: Cutaneous Melanocytic Neoplasm, Large Cutaneous Melanocytic Nevi, Neurocutaneous Melanocytosis, large cutaneous melanocytic nevi, LCMN, neurocutaneous melanocytosis, NCM, 20-363