NCT00001975

Brief Summary

Tuberous sclerosis is a rare, hereditary disease in which patients develop multiple tumors. Although not cancerous, the tumors can affect various organs, including the heart, lungs, kidneys, skin, and central nervous system, with serious medical consequences. The severity of disease varies greatly among patients, from barely detectable to fatal. This study will investigate what causes skin tumors to develop in patients with this disease. Patients with tuberous sclerosis 18 years and older may enroll in this study. Participants will undergo a medical history and thorough skin examination by a dermatologist. Those with skin tumors will be asked to undergo biopsy (tissue removal) of up to eight lesions, under a local anesthetic, for research purposes. The biopsies will all be done the same day. The tissue samples will be used for: examination of genetic changes, measurement of certain proteins and other substances, and growing in culture to study the genetics of tuberous sclerosis. ...

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
400

participants targeted

Target at P75+ for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

January 20, 2000

Completed
1 day until next milestone

First Posted

Study publicly available on registry

January 21, 2000

Completed
5 days until next milestone

Study Start

First participant enrolled

January 26, 2000

Completed
Last Updated

May 1, 2026

Status Verified

September 16, 2025

First QC Date

January 20, 2000

Last Update Submit

April 30, 2026

Conditions

Tuberous Sclerosis

Keywords

Skin BiopsyFamilial Tumor SyndromeCell GrowthLoss of HeterozygosityCytokinesNatural HistoryTuberous Sclerosis

Outcome Measures

Primary Outcomes (1)

  • 1.Identify the tumor cells in cutaneous and mucosal tumors in patients with TSC through LOH studies on microdissected cell populations

    natural history

    ongoing

Study Arms (1)

Group 1

Patients will be those already diagnosed with TSC (definite or possible)

Eligibility Criteria

Age18 Years - 90 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients will be those already diagnosed with TSC (definite or possible) based on clinical criteria and/or genetic testing, and ranging in age from 18 to 90 years old.

You may qualify if:

  • Patients will be those already diagnosed with TSC (definite, probable, or possible) based on clinical criteria and/or genetic testing, and ranging in age from 18 to 90 years old.
  • The clinical features of TSC considered of major significance are: facial angiofibromas or forehead plaque, nontraumatic periungual fibromas, three or more hypomelanotic macules, shagreen patch, multiple retinal nodular hamartomas, cortical tuber, subependymal nodule, subependymal giant cell astrocytoma, cardiac rhabdomyoma, lymphangioleiomyomatosis, and renal angiomyolipoma.
  • The minor features of TSC are: multiple randomly distributed pits in dental enamel, hamartomatous rectal polyps, bone cysts, cerebral white matter radial migration lines, gingival fibromas, nonrenal hamartoma, retinal achromic patch, confetti skin lesions, and multiple renal cysts (5). Definite TSC is diagnosed by the presence of two major features or one major feature plus two minor features. Probable TSC is diagnosed by the presence of one major feature and one minor feature. Possible TSC is diagnosed by the presence of either one major feature or two or more minor features. Patients will not be preselected for skin lesions, but about 80% of patients with TSC are expected to have skin lesions.

You may not qualify if:

  • Inability to give informed consent.
  • Tendency to keloid formation.
  • Allergy to anesthetics.
  • Bleeding abnormality.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (3)

  • Kwiatkowski DJ, Short MP. Tuberous sclerosis. Arch Dermatol. 1994 Mar;130(3):348-54.

    PMID: 8129414BACKGROUND

  • Weiner DM, Ewalt DH, Roach ES, Hensle TW. The tuberous sclerosis complex: a comprehensive review. J Am Coll Surg. 1998 Nov;187(5):548-61. doi: 10.1016/s1072-7515(98)00239-7. No abstract available.

    PMID: 9809574BACKGROUND

  • Webb DW, Clarke A, Fryer A, Osborne JP. The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol. 1996 Jul;135(1):1-5.

    PMID: 8776349BACKGROUND

Related Links

MeSH Terms

Conditions

Tuberous SclerosisNeoplastic Syndromes, Hereditary

Condition Hierarchy (Ancestors)

HamartomaNeoplasmsNeoplasms, Multiple PrimaryMalformations of Cortical Development, Group IMalformations of Cortical DevelopmentNervous System MalformationsNervous System DiseasesNeurocutaneous SyndromesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, Inborn

Study Officials

  • Joel Moss, M.D.

    National Heart, Lung, and Blood Institute (NHLBI)

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Tatyana A Worthy, R.N.

CONTACT

(301) 827-1376worthyt@mail.nih.gov

Joel Moss, M.D.

CONTACT

(301) 496-1597mossj@nhlbi.nih.gov

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 20, 2000

First Posted

January 21, 2000

Study Start

January 26, 2000

Last Updated

May 1, 2026

Record last verified: 2025-09-16

Locations

US(1)