Pseudoxanthoma ElasticumNCT00341419
Genetic Analysis of Patients With Pseudoxanthoma Elasticum
An observational study of Pseudoxanthoma Elasticum and PXE, run by National Cancer Institute (NCI) at 1 site in United States.
Trial summary
This study will characterize the gene mutations responsible for pseudoxanthoma elasticum (PXE) and correlate them with disease manifestations in males and females. PXE is an inherited disorder that affects the connective tissue in some parts of the body. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Pseudoxanthoma Elasticum, PXE
- How many people
- 188 participants
- Where
- 1 siteUnited States
- Study dates
- 16 Feb 2005to 14 May 2013
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- A representative set of collected families will be studied. No subjects within these families will be excluded.
- Families will be selected that have samples from both parents and at least one sibling in addition to the proband.
- The siblings will include both affected and unaffected.
- If grandparents are available they will also be typed to help in phase determination.
- Extended relatives will only be selected in multiple generation families.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Cancer Institute (NCI), 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: Genetic Analysis of Patients With Pseudoxanthoma Elasticum (PXE)
This study will characterize the gene mutations responsible for pseudoxanthoma elasticum (PXE) and correlate them with disease manifestations in males and females. PXE is an inherited disorder that affects the connective tissue in some parts of the body. Calcium and other minerals are deposited in the connective tissue, causing changes in the skin, eyes, cardiovascular system and gastrointestinal system. Some effects of PXE can cause serious medical problems, while others have less impact. Symptoms often appear earlier and are more severe in females than in males, but there is no way to predict how the disorder will progress in any given individual.
Candidates for this study are recruited through PXE International, an organization that provides patient support and supports research on the disease. The organization collects biological samples and medical information on patients and family members to help further research on the disease. Families that have samples from the patient, both parents, and at least one sibling may be eligible for this study. Grandparents and extended family members may be included in certain instances.
Read more
Participants provide a blood sample, a sample of cells scraped from the inside of the cheek (buccal cells) and a medical history. The samples are analyzed for gene variants and the findings are correlated with disease signs and symptoms.
...
Read the detailed description
Background:
- Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized by mutations in the ATP-binding cassette transporter, ABCC6.
- PXE while it is known that patients have two mutated alleles of the ABCC6 gene, significant questions remain about the segregation of the disease, the presentation in males versus females and the correlation of mutation to clinical phenotype.
Objectives:
- The objective is to examine the role of variants in the ABCC6 gene in PXE.
Eligibility:
- Samples from study participants were obtained through the PXE International BioBank.
- Families were selected that have samples from both parents and at least one sibling in addition to the proband.
Design:
- Participants DNA was sequenced to identify variants and genotyped for linked markers to follow the segregation of mutant alleles and compare the results with the clinical outcomes.
- Conditions
- Pseudoxanthoma Elasticum, PXE
- Keywords
- ABC Transporter, ABCC6, Slkin Laxity, Genetic Association, Angiod Streaks, Pseudoxanthoma Elasticum, PXE
- Medical subject headings
- Pseudoxanthoma Elasticum
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jun 2006 (estimated)
- Study start16 Feb 2005
- Study completion14 May 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Pseudoxanthoma ElasticumStudies of the same condition, open and under way.
- More trials run by National Cancer Institute (NCI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 188 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
- Investigators
- Michael Dean, Ph.D., Principal investigator, National Cancer Institute (NCI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00341419
- Sponsor's protocol ID
- 999905106
- Other IDs
- 05-C-N106
- Status last verified
- 14 May 2013
- First submitted
- 19 Jun 2006
- Last updated
- 17 Dec 2019
- Results posted
- No
Publications
Hagedorn C. Influences of soil acidity on Streptomyces populations inhabiting forest soils. Appl Environ Microbiol. 1976 Sep;32(3):368-75. doi: 10.1128/aem.32.3.368-375.1976.
PubMed 10835Dean M, Rzhetsky A, Allikmets R. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res. 2001 Jul;11(7):1156-66. doi: 10.1101/gr.184901.
PubMed 11435397Bodzioch M, Orso E, Klucken J, Langmann T, Bottcher A, Diederich W, Drobnik W, Barlage S, Buchler C, Porsch-Ozcurumez M, Kaminski WE, Hahmann HW, Oette K, Rothe G, Aslanidis C, Lackner KJ, Schmitz G. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet. 1999 Aug;22(4):347-51. doi: 10.1038/11914.
PubMed 10431237
Study at a glance
From the registry record, last updated by the sponsor on 17 Dec 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Analysis of Patients With Pseudoxanthoma Elasticum (PXE)
- ClinicalTrials.gov ID
- NCT00341419
- Acronym / sponsor ID
- 999905106
- Conditions
- Pseudoxanthoma Elasticum, PXE
- Keywords
- ABC Transporter, ABCC6, Slkin Laxity, Genetic Association, Angiod Streaks, Pseudoxanthoma Elasticum, PXE
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 188 participants (actual)
- Lead sponsor
- National Cancer Institute (NCI)US National Institutes of Health
- Study start
- 16 Feb 2005
- Study completion
- 14 May 2013
- First posted
- 21 Jun 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study will characterize the gene mutations responsible for pseudoxanthoma elasticum (PXE) and correlate them with disease manifestations in males and females. PXE is an inherited disorder that affects the connective tissue in some parts of the body. Calcium and other minerals are deposited in the connective tissue, causing changes in the skin, eyes, cardiovascular system and gastrointestinal system. Some effects of PXE can cause serious medical problems, while others have less impact. Symptoms often appear earlier and are more severe in females than in males, but there is no way to predict how the disorder will progress in any given individual.
Candidates for this study are recruited through PXE International, an organization that provides patient support and supports research on the disease. The organization collects biological samples and medical information on patients and family members to help further research on the disease. Families that have samples from the patient, both parents, and at least one sibling may be eligible for this study. Grandparents and extended family members may be included in certain instances.
Participants provide a blood sample, a sample of cells scraped from the inside of the cheek (buccal cells) and a medical history. The samples are analyzed for gene variants and the findings are correlated with disease signs and symptoms.
...
Detailed description
Background:
- Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized by mutations in the ATP-binding cassette transporter, ABCC6.
- PXE while it is known that patients have two mutated alleles of the ABCC6 gene, significant questions remain about the segregation of the disease, the presentation in males versus females and the correlation of mutation to clinical phenotype.
Objectives:
- The objective is to examine the role of variants in the ABCC6 gene in PXE.
Eligibility:
- Samples from study participants were obtained through the PXE International BioBank.
- Families were selected that have samples from both parents and at least one sibling in addition to the proband.
Design:
- Participants DNA was sequenced to identify variants and genotyped for linked markers to follow the segregation of mutant alleles and compare the results with the clinical outcomes.
Study design
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (5 listed)
- A representative set of collected families will be studied. No subjects within these families will be excluded.
- Families will be selected that have samples from both parents and at least one sibling in addition to the proband.
- The siblings will include both affected and unaffected.
- If grandparents are available they will also be typed to help in phase determination.
- Extended relatives will only be selected in multiple generation families.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Dec 2019.
- Background: PubMed 10835Hagedorn C. Influences of soil acidity on Streptomyces populations inhabiting forest soils. Appl Environ Microbiol. 1976 Sep;32(3):368-75. doi: 10.1128/aem.32.3.368-375.1976.
- Background: PubMed 11435397Dean M, Rzhetsky A, Allikmets R. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res. 2001 Jul;11(7):1156-66. doi: 10.1101/gr.184901.
- Background: PubMed 10431237Bodzioch M, Orso E, Klucken J, Langmann T, Bottcher A, Diederich W, Drobnik W, Barlage S, Buchler C, Porsch-Ozcurumez M, Kaminski WE, Hahmann HW, Oette K, Rothe G, Aslanidis C, Lackner KJ, Schmitz G. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet. 1999 Aug;22(4):347-51. doi: 10.1038/11914.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Michael Dean, Ph.D. principal investigator
National Cancer Institute (NCI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pseudoxanthoma Elasticum and PXE, run by National Cancer Institute (NCI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 17 Dec 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00341419, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Dec 2019.