Neoplastic Syndromes, HereditaryNCT00001814
Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples
An observational study of Neoplastic Syndromes, Hereditary and Urologic Neoplasms, run by National Cancer Institute (NCI) at 1 site in United States.
Trial summary
Investigation of the causes of genetic defects relating to hereditary urologic malignancies will be undertaken. These rare disorders result from inherited or newly arising mutations in genes involved in the development and function of different organ systems. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Neoplastic Syndromes, Hereditary, Urologic Neoplasms
- How many people
- 600 participants
- Where
- 1 siteUnited States
- Study dates
- Apr 1999to Jan 2001
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Category I: Individuals and family members with established diagnoses of hereditary malignancies where the disease gene is known, specifically von Hippel Lindau or HPRC.
Category II: Individuals and family members with malignant disorders where the disease gene is not yet known, specifically hereditary forms of Type II papillary renal cancer, clear cell renal carcinoma, renal oncocytoma or chromophobe renal carcinoma or Birt Hogg Dube syndrome.
Category III: Malignant diseases of suspected, but not proven genetic etiology, including families with more than one individual affected by the same or related cancers.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Cancer Institute (NCI)
Bethesda, Maryland, 20892
About this study
Investigation of the causes of genetic defects relating to hereditary urologic malignancies will be undertaken. These rare disorders result from inherited or newly arising mutations in genes involved in the development and function of different organ systems. As specific disease syndromes are recognized and the responsible genes identified, mutations in individual families can be identified. Correlation of mutation sites with clinical information will help determine how specific gene segments encode important functional protein domains.
Families with urologic malignant disorders of known or suspected genetic basis will be enrolled. Genetic linkage studies will include all available family members, while gene sequence analysis will be performed on affected individuals. Unaffected family members or unrelated normal individuals will serve as controls. The family members will be identified by the proband or proband's parent when the initial pedigree is taken. Subjects considered by the investigators to be appropriate for linkage studies will be invited to participate by the local genetics provider or by the investigators, who will then connect these members to their own local providers for enrollment.
In our studies of inherited urologic malignant disorders, there may be individuals from renal cancer families who do not undergo clinical evaluation for the presence of an inherited urologic malignant disorder at the National Institutes of Health because of their health problems, geographical location, or personal preference. Even though these individuals do not undergo a clinical evaluation of their suspected inherited urologic malignant disorder at the National Institutes of Health, they may have rare diseases that are extremely important to study. Therefore, we intend to collect blood samples for genetic studies from these individuals to facilitate linkage analysis and disease gene identification. Samples will be collected either by the individual's physician and sent to NIH, or will be collected by NIH physicians at either the individual's off-site location or at the NIH.
Read the detailed description
Investigation of the causes of genetic defects relating to hereditary urologic malignancies will be undertaken. These rare disorders result from inherited or newly arising mutations in genes involved in the development and function of different organ systems. As specific disease syndromes are recognized and the responsible genes identified, mutations in individual families can be identified. Correlation of mutation sites with clinical information will help determine how specific gene segments encode important functional protein domains.
Families with urologic malignant disorders of known or suspected genetic basis will be enrolled. Genetic linkage studies will include all available family members, while gene sequence analysis will be performed on affected individuals. Unaffected family members or unrelated normal individuals will serve as controls. The family members will be identified by the proband or proband's parent when the initial pedigree is taken. Subjects considered by the investigators to be appropriate for linkage studies will be invited to participate by the local genetics provider or by the investigators, who will then connect these members to their own local providers for enrollment.
In our studies of inherited urologic malignant disorders, there may be individuals from renal cancer families who do not undergo clinical evaluation for the presence of an inherited urologic malignant disorder at the National Institutes of Health because of their health problems, geographical location, or personal preference. Even though these individuals do not undergo a clinical evaluation of their suspected inherited urologic malignant disorder at the National Institutes of Health, they may have rare diseases that are extremely important to study. Therefore, we intend to collect blood samples for genetic studies from these individuals to facilitate linkage analysis and disease gene identification. Samples will be collected either by the individual's physician and sent to NIH, or will be collected by NIH physicians at either the individual's off-site location or at the NIH.
- Keywords
- Hereditary, Kidney, MET, Oncocytoma, VHL
- Medical subject headings
- Neoplastic Syndromes, Hereditary, Urologic Neoplasms, Adenoma, Oxyphilic
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Dec 2002 (estimated)
- Study startApr 1999
- Study completionJan 2001
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 Neoplastic Syndromes, HereditaryStudies 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
- 600 participants
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001814
- Sponsor's protocol ID
- 990101
- Other IDs
- 99-C-0101
- Status last verified
- Feb 2000
- First submitted
- 3 Nov 1999
- Last updated
- 4 Mar 2008
- Results posted
- No
Publications
Puck JM, Nussbaum RL, Conley ME. Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. J Clin Invest. 1987 May;79(5):1395-400. doi: 10.1172/JCI112967.
PubMed 2883199Conley ME, Lavoie A, Briggs C, Brown P, Guerra C, Puck JM. Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency. Proc Natl Acad Sci U S A. 1988 May;85(9):3090-4. doi: 10.1073/pnas.85.9.3090.
PubMed 2896355Conley ME, Puck JM. Carrier detection in typical and atypical X-linked agammaglobulinemia. J Pediatr. 1988 May;112(5):688-94. doi: 10.1016/s0022-3476(88)80683-8.
PubMed 2896233
Study at a glance
From the registry record, last updated by the sponsor on 4 Mar 2008. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples
- ClinicalTrials.gov ID
- NCT00001814
- Acronym / sponsor ID
- 990101
- Keywords
- Hereditary, Kidney, MET, Oncocytoma, VHL
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 600 participants
- Lead sponsor
- National Cancer Institute (NCI)US National Institutes of Health
- Study start
- Apr 1999
- Study completion
- Jan 2001
- First posted
- 10 Dec 2002 (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.
Investigation of the causes of genetic defects relating to hereditary urologic malignancies will be undertaken. These rare disorders result from inherited or newly arising mutations in genes involved in the development and function of different organ systems. As specific disease syndromes are recognized and the responsible genes identified, mutations in individual families can be identified. Correlation of mutation sites with clinical information will help determine how specific gene segments encode important functional protein domains.
Families with urologic malignant disorders of known or suspected genetic basis will be enrolled. Genetic linkage studies will include all available family members, while gene sequence analysis will be performed on affected individuals. Unaffected family members or unrelated normal individuals will serve as controls. The family members will be identified by the proband or proband's parent when the initial pedigree is taken. Subjects considered by the investigators to be appropriate for linkage studies will be invited to participate by the local genetics provider or by the investigators, who will then connect these members to their own local providers for enrollment.
In our studies of inherited urologic malignant disorders, there may be individuals from renal cancer families who do not undergo clinical evaluation for the presence of an inherited urologic malignant disorder at the National Institutes of Health because of their health problems, geographical location, or personal preference. Even though these individuals do not undergo a clinical evaluation of their suspected inherited urologic malignant disorder at the National Institutes of Health, they may have rare diseases that are extremely important to study. Therefore, we intend to collect blood samples for genetic studies from these individuals to facilitate linkage analysis and disease gene identification. Samples will be collected either by the individual's physician and sent to NIH, or will be collected by NIH physicians at either the individual's off-site location or at the NIH.
Detailed description
Investigation of the causes of genetic defects relating to hereditary urologic malignancies will be undertaken. These rare disorders result from inherited or newly arising mutations in genes involved in the development and function of different organ systems. As specific disease syndromes are recognized and the responsible genes identified, mutations in individual families can be identified. Correlation of mutation sites with clinical information will help determine how specific gene segments encode important functional protein domains.
Families with urologic malignant disorders of known or suspected genetic basis will be enrolled. Genetic linkage studies will include all available family members, while gene sequence analysis will be performed on affected individuals. Unaffected family members or unrelated normal individuals will serve as controls. The family members will be identified by the proband or proband's parent when the initial pedigree is taken. Subjects considered by the investigators to be appropriate for linkage studies will be invited to participate by the local genetics provider or by the investigators, who will then connect these members to their own local providers for enrollment.
In our studies of inherited urologic malignant disorders, there may be individuals from renal cancer families who do not undergo clinical evaluation for the presence of an inherited urologic malignant disorder at the National Institutes of Health because of their health problems, geographical location, or personal preference. Even though these individuals do not undergo a clinical evaluation of their suspected inherited urologic malignant disorder at the National Institutes of Health, they may have rare diseases that are extremely important to study. Therefore, we intend to collect blood samples for genetic studies from these individuals to facilitate linkage analysis and disease gene identification. Samples will be collected either by the individual's physician and sent to NIH, or will be collected by NIH physicians at either the individual's off-site location or at the NIH.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
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 4 Mar 2008.
- Background: PubMed 2883199Puck JM, Nussbaum RL, Conley ME. Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. J Clin Invest. 1987 May;79(5):1395-400. doi: 10.1172/JCI112967.
- Background: PubMed 2896355Conley ME, Lavoie A, Briggs C, Brown P, Guerra C, Puck JM. Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency. Proc Natl Acad Sci U S A. 1988 May;85(9):3090-4. doi: 10.1073/pnas.85.9.3090.
- Background: PubMed 2896233Conley ME, Puck JM. Carrier detection in typical and atypical X-linked agammaglobulinemia. J Pediatr. 1988 May;112(5):688-94. doi: 10.1016/s0022-3476(88)80683-8.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Neoplastic Syndromes, Hereditary and Urologic Neoplasms, 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.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 4 Mar 2008. 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 NCT00001814, 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 4 Mar 2008.