Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia

Brief Title

Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia

Official Title

Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia

Brief Summary


        1. The prevalence of endocrinopathies, and growth hormone (GH) deficiency in particular,
           among young children diagnosed with optic nerve hypoplasia (ONH) is higher than is
           commonly thought.

        2. Early treatment of children with ONH and GH-deficiency can prevent adverse outcomes.


        1. Determine the prevalence and types of endocrinopathies in children diagnosed with ONH.

        2. Correlate endocrine outcome with radiographic, ocular, and developmental findings in
           children with ONH.

        3. Examine the effect of GH treatment on growth and obesity in children with ONH,
           GH-deficiency, and either subnormal or normal growth compared to children with ONH that
           are not GH-deficient.

        4. Compare growth outcomes between children with isolated GH-deficiency and those with
           multiple hormone deficiencies.

Detailed Description

      Subjects for this study will be recruited from active and newly enrolled subjects in our
      larger ONH study. The study duration is three years and we anticipate 38 subjects will
      enroll. Subjects will be recruited for this study if they present with either growth
      deceleration or at least one subnormal result for IGF-1 or IGFBP-3.

      Baseline information collected includes: height, weight, head circumference, examinations by
      an endocrinologist and ophthalmologist, endocrine laboratory testing, fundus photography,
      electrophysiology testing, head MRI, and a developmental assessment. A glucagon stimulation
      test will be performed and subjects who are deemed GH-deficient and who have delayed growth
      will be assigned to GH treatment, in line with standard clinical practice. Those with normal
      growth but determined to be GH-deficient by a glucagon stimulation test will be randomized to
      treatment with GH vs control (no intervention; observation only).

      Subjects assigned or randomized to treatment with GH will be provided with GH for the
      duration of their participation in the study. Enrolled subjects will return every four months
      to monitor progress. Subjects will undergo a physical examination at each visit, including
      height, weight, head circumference, and body fat. In addition, subjects assigned or
      randomized to growth hormone will have laboratory testing of thyroid, IGF-1 and IGFBP-3
      hormones, and fasting lipid levels.

Study Phase

Phase 4

Study Type


Primary Outcome

Change in Anthropometric Measures Over Time


Growth Hormone Deficiency


Nutropin AQ

Study Arms / Comparison Groups

 Treatment Group 1: Receiving GH Treatment
Description:  Treatment group assignment was based on subject's stature SDS relative to the mid-parental target height (MPTH) at baseline and subsequent classification as growth deceleration or normal growth. Subjects with growth deceleration were assigned to the GH treatment group in accordance with standard of care. Subjects with normal growth were randomized to treatment or to control (no intervention). The intervention was Nutropin AQ. The starting dose was calculated as 0.3 mg/kg/wk and subsequently modified based on observed length/height velocity and serum IGF-I levels.


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

December 2004

Completion Date

February 2014

Primary Completion Date

February 2014

Eligibility Criteria

        Inclusion Criteria:

          -  New subjects diagnosed with ONH less than or equal to 2 years of age and subjects
             actively enrolled (in currently approved prospective ONH study) will be eligible for




N/A - 5 Years

Accepts Healthy Volunteers



Mark Borchert, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Responsible Party

Principal Investigator

Study Sponsor

Children's Hospital Los Angeles


 Genentech, Inc.

Study Sponsor

Mark Borchert, MD, Principal Investigator, Childrens Hospital Los Angeles; University of Southern California

Verification Date

March 2015