Trial record 3 of 6 for:    "Albrights hereditary osteodystrophy"

Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia)

The recruitment status of this study is unknown because the information has not been verified recently.
Verified June 2007 by University of Milan.
Recruitment status was  Active, not recruiting
Sponsor:
Collaborator:
Eli Lilly and Company
Information provided by:
University of Milan
ClinicalTrials.gov Identifier:
NCT00497484
First received: July 5, 2007
Last updated: NA
Last verified: June 2007
History: No changes posted
  Purpose

We have recently demonstrated resistance to GHRH leading to GH deficiency in patients with Pseudohypoparathyroidism type Ia (Mantovani et al., J Clin Endocrinol Metab, 2003. 88: 4070-4074). The purpose of this study is to evaluate the effect of at least 1-year GH replacement in these patients. In particular, we will focus our attention on growth velocity in children affected with this disease.


Condition Intervention
Pseudohypoparathyroidism
Growth Hormone Deficiency, Dwarfism
Drug: recombinant human somatotropin

Study Type: Interventional
Study Design: Endpoint Classification: Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia)

Resource links provided by NLM:


Further study details as provided by University of Milan:

Primary Outcome Measures:
  • growth velocity [ Time Frame: One year ]

Secondary Outcome Measures:
  • IGF-1 levels [ Time Frame: one month ]

Detailed Description:

Albright’s Hereditary Osteodystrophy is a rare autosomal dominant disease characterized by a constellation of physical features including short stature, central obesity, round face, brachydactyly, subcutaneous calcifications and mental retardation. In the same family, it may present associated to end organ resistance to the action of different hormones, primarily PTH, TSH and gonadotropins and in this case it is named PHP type Ia, or on the contrary we may find it as an isolated defect and this is the case of PPHP.

In about 80% of affected families, heterozygous loss of function mutations in the Gs alpha gene are detected. It is of interest mutations inherited from the mother always lead to the complete form of the disorder, that is PHP; on the contrary when the same mutations are inherited from the father, patients show the physical abnormalities of Albright’s Osteodystrophy, without any evidence of hormone resistance. This pattern of inheritance is consistent with a tissue-specific paternal imprinting of the Gs alpha gene. Imprinting is an epigenetic phenomenon by which one of the 2 alleles undergoes partial or total loss of expression; in the case of the Gs alpha gene one would expect that only the paternal allele should be lost in specific endocrine tissues, such as the kidney, the thyroid and the gonad, which are the target organs resistant to hormone action in PHP Ia. Indeed, our group demonstrated that in specific human endocrine tissues also Gs alpha transcription mainly derives from the maternal allele (Mantovani et al., J Clin Endocrinol Metab, 2002. 87: 4736-4740). In particular a predominant maternal origin of transcription was found in thyroid and gonad and these data are consistent with the clinical finding of TSH and gonadotropin resistance present in patients affected with PHP. Interestingly, we observed a predominance of the maternal allele also in the pituitary gland, an organ which is not classically included among the target organs resistant to hormone action in PHP Ia.

Following this observation, we have recently demonstrated resistance to GHRH leading to GH deficiency in most of our patients with PHP Ia (Mantovani et al., J Clin Endocrinol Metab, 2003. 88: 4070-4074). The purpose of this study is to evaluate the effect of at least 1-year GH replacement in these patients. In particular, we will focus our attention on growth velocity in children affected with this disease.

  Eligibility

Ages Eligible for Study:   1 Year to 18 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • Clinical and/or genetic diagnosis of Pseudohypoparathyroidism type Ia
  • Growth hormone deficiency

Exclusion Criteria:

  • Known malignancies
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00497484

Locations
Italy
Endocrine Unit, Dpt. of Medical Sciences, Fondazione Policlinico IRCCS
Milan, Italy, 20122
Sponsors and Collaborators
University of Milan
Eli Lilly and Company
Investigators
Study Director: Paolo Beck-Peccoz, MD/PhD Endocrine Unit, Dpt. of Medical Sciences, Fondazione Policlinico IRCCS, Milan
  More Information

Publications:
Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
ClinicalTrials.gov Identifier: NCT00497484     History of Changes
Other Study ID Numbers: PHP-IA-rhGH
Study First Received: July 5, 2007
Last Updated: July 5, 2007
Health Authority: Italy: Ethics Committee

Additional relevant MeSH terms:
Pseudohypoparathyroidism
Dwarfism
Dwarfism, Pituitary
Pseudopseudohypoparathyroidism
Endocrine System Diseases
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Genetic Diseases, Inborn
Bone Diseases, Endocrine
Hypopituitarism
Pituitary Diseases
Hypothalamic Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Bone Diseases, Metabolic
Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Calcium Metabolism Disorders
Metabolic Diseases

ClinicalTrials.gov processed this record on August 26, 2014