NCT00004365

Brief Summary

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.

Trial Health

100
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
4

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Sep 1995

Longer than P75 for all trials

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

September 1, 1995

Completed
4.1 years until next milestone

First Submitted

Initial submission to the registry

October 18, 1999

Completed
1 day until next milestone

First Posted

Study publicly available on registry

October 19, 1999

Completed
4 months until next milestone

Study Completion

Last participant's last visit for all outcomes

February 1, 2000

Completed
Last Updated

June 24, 2005

Status Verified

December 1, 2003

First QC Date

October 18, 1999

Last Update Submit

June 23, 2005

Conditions

Growth Hormone Deficiency

Keywords

endocrine disordersgrowth hormone deficiencyrare disease

Eligibility Criteria

Age10 Years - 60 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
* 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

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

Sponsors & Collaborators

Related Publications (2)

  • 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. doi: 10.1111/j.1651-2227.1997.tb18366.x.

    PMID: 9401536BACKGROUND

  • 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. doi: 10.1210/jcem.83.11.5226.

    PMID: 9814493BACKGROUND

MeSH Terms

Conditions

Dwarfism, PituitaryEndocrine System DiseasesRare Diseases

Condition Hierarchy (Ancestors)

DwarfismBone Diseases, DevelopmentalBone DiseasesMusculoskeletal DiseasesBone Diseases, EndocrineHypopituitarismPituitary DiseasesHypothalamic DiseasesBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Gerhard Baumann

    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

September 1, 1995

Study Completion

February 1, 2000

Last Updated

June 24, 2005

Record last verified: 2003-12