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Role of Pseudogene in Incontinentia Pigmenti, and Its Potential Treatment

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00976586
Recruitment Status : Completed
First Posted : September 14, 2009
Last Update Posted : December 4, 2013
National Science Council, Taiwan
Information provided by (Responsible Party):
National Taiwan University Hospital

Brief Summary:

Incontinentia Pigmenti (IP) is an X-linked dominant ectodermal dysplastic disorder. It is due to loss of function of NF-Kappa B Essential Modulator (NEMO, inhibitor of Kappa light polypeptide gene enhancer in B cells, Kinase of Gamma, IKBKG), an important regulator of the NF-kB pathway. Major clinical manifestations of IP include swirling skin pigmentary changes, and anomalies in organs including the eyes, dental, bones, nervous system, and heart. Affected male mostly die before birth. Older patients might have immunodeficiency, psychomotor retardation, and seizures. Prenatal diagnosis is difficult. IKBKG gene is 35 kb in length, and contains 10 exons. A pseudogene (∆NEMO, IKBKGP), located distal and in inverse direction to the true gene, contains only exon 3-10. In patients with IP, the most common mutation was exon 4-10 large deletion. But the investigators have found small mutations derived from the pseudogene in Taiwanese patients.

The three aims of this study are the role of pseudogene in IP, the frequency of recombination between IKBKG and IKBKGP, and possible treatment. To achieve the first aim, the investigators first develop a pseudogene-specific polymerase chain reaction (PCR). The investigators will first obtain the frequency of IKBKGP gene mutation in normal individuals. The investigators will then detect IKBKGP related mutations in IP patients presenting classical or non-classical symptoms. The latter group of patients, who may have isolated hair, teeth, retinal, or immune problems, are more likely to be caused by point mutations. The second aim of this study is to estimate the incidence of IKBKG and IKBKGP recombination. Because these two genes are in opposite position, recombination after DNA loop back is likely to occur in somatic cells. The investigators will transform lymphocytes containing IKBKGP mutation, and culture them continuously. IKBKG mutation will be check intermittently and the incidence can be estimated. The third aim is to find a treatment. The investigators will test the read-through drug gentamycin and PTC2124 for nonsense mutation. Either fibroblast or Epstein-Barr virus (EBV) - transformed lymphoblasts will be tested. The investigators hope this study with not only increases our understand to IP, and also improves the investigators' knowledge toward genetic diseases.

Condition or disease
Incontinentia Pigmenti

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Study Type : Observational
Actual Enrollment : 50 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: In Vitro Observation of Chromosome Recombination and Treatment in Vitro
Study Start Date : August 2009
Actual Primary Completion Date : June 2012
Actual Study Completion Date : June 2012

Resource links provided by the National Library of Medicine

Patients wiht Incontinentia Pigmenti
Patients wiht Incontinentia Pigmenti

Primary Outcome Measures :
  1. Mutation analysis result [ Time Frame: 1 year ]
    Mutation analysis result

Biospecimen Retention:   Samples With DNA
blood for DNA and plasma. Skin for cultured fibroblast

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with Incontinentia Pigmenti

Inclusion Criteria:

  • Patients diagnosed to have Incontinentia Pigmenti

Exclusion Criteria:

  • None

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00976586

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National Taiwan University Hospital
Taipei, Taiwan, 100
Sponsors and Collaborators
National Taiwan University Hospital
National Science Council, Taiwan
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Principal Investigator: NiChung Lee, MD National Taiwan University Hospital

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Responsible Party: National Taiwan University Hospital, Attending Identifier: NCT00976586    
Other Study ID Numbers: 200812061R
First Posted: September 14, 2009    Key Record Dates
Last Update Posted: December 4, 2013
Last Verified: December 2013
Keywords provided by National Taiwan University Hospital:
Incontinentia pigmenti
Additional relevant MeSH terms:
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Incontinentia Pigmenti
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Pigmentation Disorders
Skin Diseases