C-Type Natriuretic Peptide and Achondroplasia

NCT01541306 | Completed

• 1 other identifier: Nemours FL IRB 302926
• Study Type: observational
• Target: 91
• Locations: 1 country
• Sites: 1

Brief Summary

Achondroplasia and hypochondroplasia are the most common forms of dwarfism. Recent studies have shown that a small hormone called C-type natriuretic peptide (CNP) is an important regulator of linear growth. The investigators believe that genetic abnormality that causes achondroplasia and hypochondroplasia also disrupts CNP signaling, which may contribute to the growth problem. The investigators propose to look at levels of this and other closely related hormones in children and adults with achondroplasia or hypochondroplasia to see if they are different from levels in healthy people. The investigators hypothesis is that CNP levels are elevated in children with achondroplasia or hypochondroplasia, compared the healthy population. Another hypothesis is that CNP levels are not elevated in adults with achondroplasia or hypochondroplasia, since adults have no growth-plate cartilage. By studying the potential role of the CNP system in achondroplasia and hypochondroplasia, not only will the investigators provide further insight into the pathophysiology of these common syndromes, the investigators will also provide greater insight into the regulation of normal linear growth.

Conditions

Achondroplasia; Hypochondroplasia

Keywords

C-type natriuretic peptide; dwarfism; growth; achondroplasia; hypochondroplasia; biomarker

Outcome Measures

Primary Outcomes (1)

• NTproCNP level in plasma

  Aminoterminal propeptide of CNP (NTproCNP) is measured in plasma by RIA and compared to an existing sex- and age- based reference range.

  one time point

Secondary Outcomes (3)

• CNP level in plasma

  one time point

• cGMP level in plasma

  one time point

• Correlation between NTproCNP level and height velocity in children

  Every six months over a period of a minumum of six months to a maximum of 2 years

Study Arms (1)

achondroplasia or hypochondroplasia

Children or adults with achondroplasia or hypochondroplasia

Eligibility Criteria

• Age: 3 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Children and adults with achondroplasia or hypochondroplasia

You may qualify if:

• a diagnosis of achondroplasia or hypochondroplasia

Sponsors & Collaborators

• Nemours Children's Clinic: lead
• Alfred I. duPont Hospital for Children: collaborator
• University of Otago: collaborator

Study Sites (1)

Alfred I. duPont Hospital for Children

Wilmington, Delaware, 19803, United States

Location

Related Publications (1)

• Olney RC, Prickett TC, Espiner EA, Mackenzie WG, Duker AL, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB. C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. J Clin Endocrinol Metab. 2015 Feb;100(2):E355-9. doi: 10.1210/jc.2014-2814. Epub 2014 Nov 11.

  PMID: 25387261 DERIVED

Biospecimen

Retention: SAMPLES WITHOUT DNA

Plasma and serum samples are stored for potential future research.

MeSH Terms

Conditions

Achondroplasia; Hypochondroplasia; Dwarfism

Condition Hierarchy (Ancestors)

Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Osteochondrodysplasias; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases

Study Officials

• Robert Olney, MD

  Nemours Children's Clinic

  PRINCIPAL INVESTIGATOR

• Michael Bober, MD, PhD

  Alfred I. duPont Hospital for Children

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Physician/researcher

Study Record Dates

• First Submitted: February 13, 2012
• First Posted: February 29, 2012
• Study Start: February 1, 2012
• Primary Completion: December 1, 2013
• Study Completion: December 1, 2014
• Last Updated: April 14, 2015

Record last verified: 2015-04

Locations

US (1)