MedDataX Logo

Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus

NCT ID: NCT00004363

Last Updated: 2005-06-24

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Study Classification

OBSERVATIONAL

Study Start Date

1995-12-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

OBJECTIVES: I. Determine whether diverse mutations of the vasopressin-neurophysin II (AVP-NPII) gene cause autosomal dominant familial neurohypophyseal diabetes insipidus by directing the production of an abnormal preprohormone.

II. Determine whether the AVP-NPII gene-directed preprohormone accumulates and destroys magnocellular neurons because it cannot be folded and processed efficiently.

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

PROTOCOL OUTLINE: This project involves 2 clinical studies. Members of known kindreds participate in Study I; members of kindreds who have not been surveyed, genotyped, or phenotyped participate in Study II.

In Study I, participants undergo clinical, hormonal, radiologic, and biochemical studies. Assessment on unrestricted fluid intake includes body weight, urine volume, osmolality, creatinine, sodium, potassium, urea, glucose, arginine-vasopressin (AVP), oxytocin, and aquaporin-II.

Participants with diabetes insipidus (DI) undergo a standard fluid deprivation test; those without DI undergo standard water load and hypertonic saline testing.

Previously untreated DI patients may be given intranasal or subcutaneous desmopressin or oral chlorpropamide (adults only) for 2 or 3 days.

Magnetic resonance imaging of the pituitary-hypothalamic area is performed on all patients with and without gadolinium.

Infants and children are studied annually for the first 5 years or until they develop DI. Affected adults are studied every 2-5 years. Unaffected adults are re-tested only if they subsequently report de novo symptoms suggestive of DI.

In Study II, participants undergo similar genotype and phenotype testing. Kindreds demonstrating the familial neurohypophyseal diabetes insipidus phenotype and genotype are added to Study I. Kindreds found to have a different type of DI are directed into a companion protocol.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Diabetes Insipidus Diabetes Insipidus, Neurohypophyseal

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

chlorpropamide

Intervention Type DRUG

desmopressin

Intervention Type DRUG

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Verified or suspected familial neurohypophyseal diabetes insipidus with or without an identified mutation of the vasopressin-neurophysin II gene Affected and unaffected members of kindreds entered
Minimum Eligible Age

6 Months

Maximum Eligible Age

70 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Northwestern University

OTHER

Sponsor Role collaborator

National Center for Research Resources (NCRR)

NIH

Sponsor Role lead

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Gary L. Robertson

Role: STUDY_CHAIR

Northwestern University

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Northwestern University Medical School

Chicago, Illinois, United States

Site Status

Countries

Review the countries where the study has at least one active or historical site.

United States

References

Explore related publications, articles, or registry entries linked to this study.

Hansen LK, Rittig S, Robertson GL. Genetic basis of familial neurohypophyseal diabetes insipidus. Trends Endocrinol Metab. 1997 Nov;8(9):363-72. doi: 10.1016/s1043-2760(97)00157-4.

Reference Type BACKGROUND
PMID: 18406826 (View on PubMed)

Rittig S, Robertson GL, Siggaard C, Kovacs L, Gregersen N, Nyborg J, Pedersen EB. Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. Am J Hum Genet. 1996 Jan;58(1):107-17.

Reference Type BACKGROUND
PMID: 8554046 (View on PubMed)

McLeod JF, Kovacs L, Gaskill MB, Rittig S, Bradley GS, Robertson GL. Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation. J Clin Endocrinol Metab. 1993 Sep;77(3):599A-599G. doi: 10.1210/jcem.77.3.8370682.

Reference Type BACKGROUND
PMID: 8370682 (View on PubMed)

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

NU-568

Identifier Type: -

Identifier Source: secondary_id

NCRR-M01RR00048-0568

Identifier Type: -

Identifier Source: org_study_id