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A study of collecting comprehensive samples for rare intractable skin diseases in human being

A study of collecting comprehensive samples for rare intractable skin diseases in human being - A study of collecting comprehensive samples

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
JPRN
Registry ID
JPRN-UMIN000007248
Enrollment
584
Registered
2012-02-08
Start date
2011-08-01
Completion date
Unknown
Last updated
2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

pemphigus, pustular psoriasis, epidermolysis bullosa hereditaria, congenital ichthyosiform erythroderma, neurofibromatosis(type1,2), xeroderma pigmentosum, tuberous sclerosis

Interventions

None listed

Sponsors

Yamaguchi university graduate school of medicine, department of dermatology
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: The inclusion criteria for the patients are 1) Patient (male and female) under the age of 75 years at the time of obtaining informed consent 2) Patients who meet any of the following three diagnostic criteria (1) Diagnostic criteria proposed by a research group of the intractable rare skin diseases (2) Diagnostic criteria proposed by a research group of the neurocutaneous syndrome (3) Diagnostic guidelines proposed by the Japanese Dermatological Association 3) Patient receives an adequate explanation prior to participation in this study and voluntarily gives informed consent: if the patient age is under the age of 20 years, informed consent is obtained from the patient's parents or a legal representative 4) Hospital outpatient and inpatient

Exclusion criteria

Exclusion criteria: Patients who fall under the following are not included in this study: 1) 75 years of age or more at diagnosis 2) Patients who do not have health insurance 3) HBs antigen-positive 4) Patients with unstable angina 5) Patients with severe liver damage (AST(GOT) or ALT(GPT) > 100 IU/L) 6) Patients with severe renal damage (serum creatinine > 2.0 mg/dL or BUN > 25 mg/dL) 7) Patients who are pregnant or have a possibility of pregnancy 8) Lactating women 9) Others deemed inappropriate as subjects for the research by the doctor conducting the research 10) Neurofibromatosis (1) patients with only cafe au lait spots

Design outcomes

Primary

MeasureTime frame
This study is intended to produce a framework for centralized projects involving a Research Resources Bank for intractable diseases for the long-term that will be effectively used for research studies on incurable skin diseases using samples donated by patients.

Countries

Japan

Contacts

Public ContactYutaka Yutaka Shimomura

Yamaguchi university graduate school of medicine, department of dermatology dermatology

yshimo@yamaguchi-u.ac.jp0836-22-2271

Outcome results

None listed

Source: JPRN (via WHO ICTRP) · Data processed: Jul 3, 2026