Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus

NCT00004363 | Completed

• 2 other identifiers: NCRR-M01RR00048-0568NU-568
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Diabetes Insipidus; Diabetes Insipidus, Neurohypophyseal

Keywords

diabetes insipidus; endocrine disorders; rare disease

Interventions

chlorpropamide DRUG

desmopressin DRUG

Eligibility Criteria

• Age: 6 Months - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

* 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

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• National Center for Research Resources (NCRR): lead
• Northwestern University: collaborator

Study Sites (1)

Northwestern University Medical School

Chicago, Illinois, 60611, United States

Location

Related Publications (3)

• 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.

  PMID: 18406826 BACKGROUND

• 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.

  PMID: 8554046 BACKGROUND

• 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.

  PMID: 8370682 BACKGROUND

MeSH Terms

Conditions

Diabetes Insipidus; Diabetes Insipidus, Neurogenic; Endocrine System Diseases; Rare Diseases

Interventions

Chlorpropamide; Deamino Arginine Vasopressin

Condition Hierarchy (Ancestors)

Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Pituitary Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Benzenesulfonamides; Sulfonamides; Amides; Organic Chemicals; Sulfonylurea Compounds; Urea; Benzene Derivatives; Hydrocarbons, Aromatic; Hydrocarbons, Cyclic; Hydrocarbons; Sulfones; Sulfur Compounds; Arginine Vasopressin; Vasopressins; Pituitary Hormones, Posterior; Pituitary Hormones; Peptide Hormones; Hormones; Hormones, Hormone Substitutes, and Hormone Antagonists; Neuropeptides; Peptides; Amino Acids, Peptides, and Proteins; Oligopeptides; Nerve Tissue Proteins; Proteins

Study Officials

• Gary L. Robertson

  Northwestern University

  STUDY CHAIR

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: October 18, 1999
• First Posted: October 19, 1999
• Study Start: December 1, 1995
• Last Updated: June 24, 2005

Record last verified: 2003-12

Locations

US (1)