Diabetes Insipidus, NephrogenicNCT00004360
Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
An observational study of Diabetes Insipidus, Nephrogenic, run by National Center for Research Resources (NCRR).
Trial summary
OBJECTIVES: I. Determine the relationship between genotype variations and clinical phenotype in patients with congenital nephrogenic diabetes insipidus. Read more about this study
- Who is it for?
- Ages 6 months to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Diabetes Insipidus, Nephrogenic
- What is being tested?
- chlorothiazide
- How many people
- Not given
- Where
- No sites listed yet
- Study dates
- Sep 1995to not given
- 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 6 months to 70 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
PROTOCOL ENTRY CRITERIA:
- Known or suspected congenital nephrogenic diabetes insipidus
- Clinically and genetically unaffected relatives entered as controls
--Patient Characteristics--
- Age: 6 months to 70 years
About this study
OBJECTIVES:
- Determine the relationship between genotype variations and clinical phenotype in patients with congenital nephrogenic diabetes insipidus.
Read the detailed description
PROTOCOL OUTLINE: A detailed family history is obtained from all participants. Whenever possible, standard growth curves of affected children are obtained.
Participants then undergo clinical studies of antidiuretic function. A standard fluid deprivation-vasopressin challenge is performed with timed measurements of osmolality, electrolytes, creatinine, and vasopressin. The next day, blood pressure, plasma cyclic AMP, GMP, von Willebrand Factor, Factor VIII, and urine osmolality are measured during a water load desamino-D-arginine vasopressin (dDAVP) infusion test.
Participants with a confirmed diagnosis of congenital diabetes insipidus are then treated with chlorothiazide. Daily urine volume and osmolality are determined before and after therapy. Sodium and fluid are not restricted.
For each family, the entire vasopressin V2 gene of at least 1 affected male, and where possible at least 1 obligate carrier and 1 unaffected brother of a patient is sequenced. In addition, a detailed Xq28 haplotype analysis is done to identify the origin of de novo mutations. If no mutation is found and the disorder is not transmitted in an X-linked mode, both alleles of the gene that codes for aquaporin-II are also sequenced. DNA is collected by mail from as many kindred as possible who do not participate in the clinical studies.
- Conditions
- Diabetes Insipidus, Nephrogenic
- Being tested
- chlorothiazide
- Keywords
- diabetes insipidus, endocrine disorders, rare disease
- Medical subject headings
- Diabetes Insipidus, Nephrogenic, Diabetes Insipidus, Endocrine System Diseases, Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
chlorothiazideDrug
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Oct 1999 (estimated)
- Study startSep 1995
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Diabetes Insipidus, NephrogenicStudies of the same condition, open and under way.
- 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
Sponsor and investigators
- Lead sponsor
- National Center for Research Resources (NCRR)
- Sponsor type
- US National Institutes of Health
- Collaborators
- Northwestern University
- Investigators
- Gary L. Robertson, Study chair, Northwestern University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00004360
- Sponsor's protocol ID
- 199/11929
- Other IDs
- NU-513
- Status last verified
- Dec 1999
- First submitted
- 18 Oct 1999
- Last updated
- 24 Jun 2005
- Results posted
- No
Publications
Bichet DG, Birnbaumer M, Lonergan M, Arthus MF, Rosenthal W, Goodyer P, Nivet H, Benoit S, Giampietro P, Simonetti S, et al. Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Am J Hum Genet. 1994 Aug;55(2):278-86.
PubMed 8037205Sadeghi H, Robertson GL, Bichet DG, Innamorati G, Birnbaumer M. Biochemical basis of partial nephrogenic diabetes insipidus phenotypes. Mol Endocrinol. 1997 Nov;11(12):1806-13. doi: 10.1210/mend.11.12.0017.
PubMed 9369448Robertson GL, McLeod JF, Zerbe RL, et al.: Vasopressin function in heritable forms of diabetes insipidus. In: Gross P, Richter D, Robertson GL, eds.: Vasopressin: IV International Vasopressin Conference, May 23-27, 1993, Berlin Germany. Paris: John Libbey Eurotext, 1993, pp 493-503.
Wenkert D, Merendino JJ Jr, Shenker A, Thambi N, Robertson GL, Moses AM, Spiegel AM. Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus. Hum Mol Genet. 1994 Aug;3(8):1429-30. doi: 10.1093/hmg/3.8.1429. No abstract available.
PubMed 7987330
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2005. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
- ClinicalTrials.gov ID
- NCT00004360
- Acronym / sponsor ID
- 199/11929
- Conditions
- Diabetes Insipidus, Nephrogenic
- Keywords
- diabetes insipidus, endocrine disorders, rare disease
- Study type
- Observational
- Recruitment status
- Completed
- Lead sponsor
- National Center for Research Resources (NCRR)US National Institutes of Health
- Collaborators
- Northwestern University
- Study start
- Sep 1995
- First posted
- 19 Oct 1999 (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.
OBJECTIVES:
- Determine the relationship between genotype variations and clinical phenotype in patients with congenital nephrogenic diabetes insipidus.
Detailed description
PROTOCOL OUTLINE: A detailed family history is obtained from all participants. Whenever possible, standard growth curves of affected children are obtained.
Participants then undergo clinical studies of antidiuretic function. A standard fluid deprivation-vasopressin challenge is performed with timed measurements of osmolality, electrolytes, creatinine, and vasopressin. The next day, blood pressure, plasma cyclic AMP, GMP, von Willebrand Factor, Factor VIII, and urine osmolality are measured during a water load desamino-D-arginine vasopressin (dDAVP) infusion test.
Participants with a confirmed diagnosis of congenital diabetes insipidus are then treated with chlorothiazide. Daily urine volume and osmolality are determined before and after therapy. Sodium and fluid are not restricted.
For each family, the entire vasopressin V2 gene of at least 1 affected male, and where possible at least 1 obligate carrier and 1 unaffected brother of a patient is sequenced. In addition, a detailed Xq28 haplotype analysis is done to identify the origin of de novo mutations. If no mutation is found and the disorder is not transmitted in an X-linked mode, both alleles of the gene that codes for aquaporin-II are also sequenced. DNA is collected by mail from as many kindred as possible who do not participate in the clinical studies.
Study design
Who may qualify
- Ages
- 6 months to 70 years
- 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.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| chlorothiazide | Drug | – |
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 24 Jun 2005.
- Background: PubMed 8037205Bichet DG, Birnbaumer M, Lonergan M, Arthus MF, Rosenthal W, Goodyer P, Nivet H, Benoit S, Giampietro P, Simonetti S, et al. Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Am J Hum Genet. 1994 Aug;55(2):278-86.
- Background: PubMed 9369448Sadeghi H, Robertson GL, Bichet DG, Innamorati G, Birnbaumer M. Biochemical basis of partial nephrogenic diabetes insipidus phenotypes. Mol Endocrinol. 1997 Nov;11(12):1806-13. doi: 10.1210/mend.11.12.0017.
- BackgroundRobertson GL, McLeod JF, Zerbe RL, et al.: Vasopressin function in heritable forms of diabetes insipidus. In: Gross P, Richter D, Robertson GL, eds.: Vasopressin: IV International Vasopressin Conference, May 23-27, 1993, Berlin Germany. Paris: John Libbey Eurotext, 1993, pp 493-503.
- Background: PubMed 7987330Wenkert D, Merendino JJ Jr, Shenker A, Thambi N, Robertson GL, Moses AM, Spiegel AM. Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus. Hum Mol Genet. 1994 Aug;3(8):1429-30. doi: 10.1093/hmg/3.8.1429. No abstract available.
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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.
Gary L. Robertson study chair
Northwestern University
Questions about this trial
What is this clinical trial studying?
An observational study of Diabetes Insipidus, Nephrogenic, run by National Center for Research Resources (NCRR).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
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 24 Jun 2005. Status can change between updates, so confirm with the study contact before making plans.
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 NCT00004360, which also lists 4 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 24 Jun 2005.