Study of Pituitary Size and Function in Familial Dwarfism of Sindh

This study has been completed.

First Received: October 18, 1999 Last Updated: June 23, 2005 History of Changes

Sponsor:	National Center for Research Resources (NCRR)
Collaborator:	Northwestern University
Information provided by:	Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier:	NCT00004365

Purpose

OBJECTIVES: I. Assess pituitary size and anatomic configuration by magnetic resonance imaging (MRI) in 4 affected dwarfs in the province of Sindh, Pakistan.

II. Evaluate ultradian growth hormone (GH) secretory patterns in 4 affected dwarfs.

Condition
Growth Hormone Deficiency

Study Type:	Observational
Study Design:	Screening

Resource links provided by NLM:

Genetics Home Reference related topics: pseudoachondroplasia

MedlinePlus related topics: Dwarfism

U.S. FDA Resources

Further study details as provided by Office of Rare Diseases (ORD):

Estimated Enrollment:	4
Study Start Date:	September 1995
Estimated Study Completion Date:	February 2000

Detailed Description:

PROTOCOL OUTLINE: Pituitary size and anatomy and growth hormone response are evaluated.

All patients undergo MRI of the pituitary fossa on day 1. On day 2, homozygous patients receive a slow infusion of normal saline with blood sampling every 10 minutes.

Eligibility

Ages Eligible for Study:	10 Years to 60 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

Familial Dwarfism of Sindh
Severe short stature but proportionate without dysmorphic features
Normal body size and weight at birth
Bone age is severely delayed
Puberty is somewhat delayed (age 15-16)
Fertility present in at least 3 dwarfs

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00004365

Sponsors and Collaborators

National Center for Research Resources (NCRR)

Northwestern University

Investigators

Study Chair:

Gerhard Baumann

Northwestern University

More Information

Publications:

Baumann G, Maheshwari H. The Dwarfs of Sindh: severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. Acta Paediatr Suppl. 1997 Nov;423:33-8.

Maheshwari HG, Silverman BL, Dupuis J, Baumann G. Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh. J Clin Endocrinol Metab. 1998 Nov;83(11):4065-74.

Study ID Numbers:	199/11940, NU-571
Study First Received:	October 18, 1999
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00004365 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):

endocrine disorders
growth hormone deficiency
rare disease

Additional relevant MeSH terms:

Dwarfism
Bone Diseases, Endocrine
Hypothalamic Diseases
Pituitary Diseases
Nervous System Diseases
Endocrine System Diseases
Central Nervous System Diseases

Dwarfism, Pituitary
Brain Diseases
Bone Diseases
Musculoskeletal Diseases
Hypopituitarism
Bone Diseases, Developmental

ClinicalTrials.gov processed this record on November 09, 2009