Growth Hormone (GH) DeficiencyGeNeSISNCT01088412
Observational Study of Somatropin Treatment in Children
An observational study of Growth Hormone (GH) Deficiency and Short Stature Homeobox Containing Gene (SHOX) Deficiency, run by Eli Lilly and Company.
Trial summary
GeNeSIS is an open-label, multinational, multicenter, observational study to evaluate the safety and effectiveness of Humatrope treatment. GeNeSIS is a modular program that includes: Core study: Evaluating the safety and effectiveness of Humatrope in the observational setting Genetic Analysis Sub-study: Investigating… Read more about this study
- Who is it for?
- Ages 1 day and older
- Conditions the study is for
- Growth Hormone (GH) Deficiency, Short Stature Homeobox Containing Gene (SHOX) Deficiency, SHOX Deficiency-related Disorder
- What is being tested?
- Somatropin (recombinant deoxyribonucleic acid [rDNA] origin)
- How many people
- 22,845 participants
- Where
- No sites listed yet
- Study dates
- Apr 1999to Sep 2015
- Phase
- Observational
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Clinics and private practices
Who may be able to join
- All participants participating in GeNeSIS must be enrolled in the core study. Participants for whom written consent to release information is provided may enter the core study if they meet any of the following inclusion guidelines:
- Treatment with Humatrope for improvement of growth.
- No treatment with somatropin in participants with a history of neoplasia or in those with any SHOX deficiency-related disorder.
Who cannot join
- Participants with closed epiphyses are not eligible for GeNeSIS entry. However, participants may remain in the study if epiphyseal closure occurs during study participation.
About this study
Official title: The Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS)
GeNeSIS is an open-label, multinational, multicenter, observational study to evaluate the safety and effectiveness of Humatrope treatment.
GeNeSIS is a modular program that includes:
- Core study: Evaluating the safety and effectiveness of Humatrope in the observational setting
- Genetic Analysis Sub-study: Investigating the genetic defects underlying growth hormone (GH) deficiency and non-GH-deficient growth disorders
- Growth Prediction Sub-study: Working to validate and refine specific models to accurately predict growth response to GH
- Short Stature Homeobox containing gene (SHOX) Deficiency Sub-study: Elucidating the clinical, endocrine and radiological features of participants with SHOX deficiency due to loss of, or mutation in the SHOX gene (including participants with Turner syndrome)
- Neoplasia Sub-study: To characterize the natural history of neoplastic disease, especially in relation to recurrence/progression of primary neoplasia or development of secondary neoplasia in children with a history of neoplasia
- Conditions
- Growth Hormone (GH) Deficiency, Short Stature Homeobox Containing Gene (SHOX) Deficiency, SHOX Deficiency-related Disorder, Non-GH-deficient Growth Disorders
- Being tested
- Somatropin (recombinant deoxyribonucleic acid [rDNA] origin)
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Somatropin (recombinant deoxyribonucleic acid [rDNA] origin)Drug
Also called Humatrope, LY137998
Dose, frequency and duration at discretion of attending physician.
| Study group | Role | What they receive |
|---|---|---|
| Treated | Participants treated with somatropin for improvement of growth Receives: Drug: Somatropin (recombinant deoxyribonucleic acid [rDNA] origin) | |
| Untreated | Untreated participants with presence or history of neoplastic disease evaluated for endocrine or growth disorder or with any SHOX deficiency related disorder |
What is being measured
The primary outcome is the main question the study is designed to answer.
Type 2 Diabetes Mellitus in GH-treated Participants
Measured: Year 15
Primary Malignancies in Participant Without Previous Cancer History
Due to the small number of participants involved, untreated and unknown treatment groups, data was not provided and could not be calculated.
Measured: Year 15
Final Height (FH) Gain by Diagnostic Group
The standard deviation score (SDS) reports the number of standard deviations from the mean for age and sex for an individual measurement (normal range is -2 to +2 SDS). Height SDS is derived by subtracting the population mean from individual's height value and then dividing that difference by the population standard deviation. Greater height SDS values indicate greater height. Due to the small number of participants involved, untreated and unknown treatment groups, data was not provided and could not be calculated.
Measured: Baseline through Year 15
Secondary outcomes (6)
Percentage of Participants With Defects in Genes Associated With Pituitary Development
Percentage of participants with genetic defects associated with pituitary development. Genes included but were not limited to GH1, Growth hormone releasing hormone receptor (GHRHR), Homeobox gene expressed in embryonic stem cells (HESX1), LIM homeobox 3 (LHX3), POU domain, class 1, transcription factor 1 (POU1F1), and Prophet of Pit1 (PROP1).
Measured: Baseline through Year 15
Predicted First Year Height Gain Versus Actual First Year Height Gain
The value for predicted and observed is of limited bearing, it is how each participant's predicted versus observed height gain compare and this is best estimated by the R-squared. An estimation parameter would not be a correct format for the R2 data. R2 can take value between 0 and 1 with values closer to 0 representing a poor fit while values closer to 1 representing a perfect fit
Measured: Baseline through Year 15
Change From Baseline to Final Height in Anthropometric Measures for Participants With SHOX Deficiency
Measured: Baseline, Year 15
Percentage of Participants With Recurrent Neoplasms and Second Neoplasms in Childhood Cancer Survivors
Percentage of participants with recurrence/progression of primary neoplastic disease and/or development of secondary neoplasms in childhood cancer survivors.
Measured: Baseline through Year 15
Percentage of Participants With De Novo Neoplasms
Percentage of participants with the development of de novo neoplastic disease with no history of prior neoplasia.
Measured: Baseline through Year 15
Diabetes Mellitus (DM) in Somatropin-Treated Children With Different Short Stature Diagnoses
Measured: Baseline through Year 15
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Mar 2010 (estimated)
- Study startApr 1999
- Primary completionSep 2015
- Study completionSep 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Growth Hormone (GH) DeficiencyStudies of the same condition, open and under way.
- More trials run by Eli Lilly and CompanyThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 22,845 participants (actual)
Sponsor and investigators
- Lead sponsor
- Eli Lilly and Company
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Call 1-877-CTLILLY (1-877-285-4559) or 1-317-615-4559 Mon-Fri 9 AM - 5 PM Eastern time (UTC/GMT - 5 hours, EST), Study director, Eli Lilly and Company
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01088412
- Sponsor's protocol ID
- 2712
- Other IDs
- B9R-EW-GDFC
- Acronym
- GeNeSIS
- Status last verified
- Jul 2018
- First submitted
- 25 Feb 2010
- Last updated
- 13 May 2019
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
Publications
Child CJ, Zimmermann AG, Chrousos GP, Cummings E, Deal CL, Hasegawa T, Jia N, Lawrence S, Linglart A, Loche S, Maghnie M, Perez Sanchez J, Polak M, Predieri B, Richter-Unruh A, Rosenfeld RG, Yeste D, Yorifuji T, Blum WF. Safety Outcomes During Pediatric GH Therapy: Final Results From the Prospective GeNeSIS Observational Program. J Clin Endocrinol Metab. 2019 Feb 1;104(2):379-389. doi: 10.1210/jc.2018-01189.
PubMed 30219920Deal C, Kirsch S, Chanoine JP, Lawrence S, Cummings E, Rosolowsky ET, Marks SD, Jia N, Child CJ; GeNeSIS National Board on behalf of the GeNeSIS Canada Investigators. Growth hormone treatment of Canadian children: results from the GeNeSIS phase IV prospective observational study. CMAJ Open. 2018 Sep 10;6(3):E372-E383. doi: 10.9778/cmajo.20180020. Print 2018 Jul-Sep.
PubMed 30201821Quigley CA, Child CJ, Zimmermann AG, Rosenfeld RG, Robison LL, Blum WF. Mortality in Children Receiving Growth Hormone Treatment of Growth Disorders: Data From the Genetics and Neuroendocrinology of Short Stature International Study. J Clin Endocrinol Metab. 2017 Sep 1;102(9):3195-3205. doi: 10.1210/jc.2017-00214.
PubMed 28575299Blum WF, Deal C, Zimmermann AG, Shavrikova EP, Child CJ, Quigley CA, Drop SL, Cutler GB Jr, Rosenfeld RG. Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with idiopathic isolated GH deficiency. Eur J Endocrinol. 2013 Nov 22;170(1):13-21. doi: 10.1530/EJE-13-0643. Print 2014 Jan.
PubMed 24088548Deal C, Hasselmann C, Pfaffle RW, Zimmermann AG, Quigley CA, Child CJ, Shavrikova EP, Cutler GB Jr, Blum WF. Associations between pituitary imaging abnormalities and clinical and biochemical phenotypes in children with congenital growth hormone deficiency: data from an international observational study. Horm Res Paediatr. 2013;79(5):283-92. doi: 10.1159/000350829. Epub 2013 May 16.
PubMed 23689058Child CJ, Zimmermann AG, Scott RS, Cutler GB Jr, Battelino T, Blum WF; GeNeSIS International Advisory Board. Prevalence and incidence of diabetes mellitus in GH-treated children and adolescents: analysis from the GeNeSIS observational research program. J Clin Endocrinol Metab. 2011 Jun;96(6):E1025-34. doi: 10.1210/jc.2010-3023. Epub 2011 Apr 13.
PubMed 21490076
Study at a glance
From the registry record, last updated by the sponsor on 13 May 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS)
- ClinicalTrials.gov ID
- NCT01088412
- Acronym / sponsor ID
- GeNeSIS / 2712
- Conditions
- Growth Hormone (GH) Deficiency, Short Stature Homeobox Containing Gene (SHOX) Deficiency, SHOX Deficiency-related Disorder, Non-GH-deficient Growth Disorders
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 22,845 participants (actual)
- Lead sponsor
- Eli Lilly and CompanyIndustry (pharma, biotech, devices)
- Study start
- Apr 1999
- Primary completion
- Sep 2015 (actual)
- Study completion
- Sep 2015 (actual)
- First posted
- 17 Mar 2010 (estimated)
- Results
- Posted 13 May 2019
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
GeNeSIS is an open-label, multinational, multicenter, observational study to evaluate the safety and effectiveness of Humatrope treatment.
GeNeSIS is a modular program that includes:
- Core study: Evaluating the safety and effectiveness of Humatrope in the observational setting
- Genetic Analysis Sub-study: Investigating the genetic defects underlying growth hormone (GH) deficiency and non-GH-deficient growth disorders
- Growth Prediction Sub-study: Working to validate and refine specific models to accurately predict growth response to GH
- Short Stature Homeobox containing gene (SHOX) Deficiency Sub-study: Elucidating the clinical, endocrine and radiological features of participants with SHOX deficiency due to loss of, or mutation in the SHOX gene (including participants with Turner syndrome)
- Neoplasia Sub-study: To characterize the natural history of neoplastic disease, especially in relation to recurrence/progression of primary neoplasia or development of secondary neoplasia in children with a history of neoplasia
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Treated | – | Drug: Somatropin (recombinant deoxyribonucleic acid [rDNA] origin)Participants treated with somatropin for improvement of growth |
| Untreated | – | –Untreated participants with presence or history of neoplastic disease evaluated for endocrine or growth disorder or with any SHOX deficiency related disorder |
Who may qualify
- Ages
- 1 day and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Clinics and private practices
Key inclusion criteria (3 listed)
- All participants participating in GeNeSIS must be enrolled in the core study. Participants for whom written consent to release information is provided may enter the core study if they meet any of the following inclusion guidelines:
- Treatment with Humatrope for improvement of growth.
- No treatment with somatropin in participants with a history of neoplasia or in those with any SHOX deficiency-related disorder.
Key exclusion criteria (1 listed)
- Participants with closed epiphyses are not eligible for GeNeSIS entry. However, participants may remain in the study if epiphyseal closure occurs during study participation.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Somatropin (recombinant deoxyribonucleic acid [rDNA] origin)Also: Humatrope, LY137998Dose, frequency and duration at discretion of attending physician. | Drug | Treated |
Primary outcome
Type 2 Diabetes Mellitus in GH-treated Participants
Time frame: Year 15
Primary Malignancies in Participant Without Previous Cancer History
Time frame: Year 15
Due to the small number of participants involved, untreated and unknown treatment groups, data was not provided and could not be calculated.
Final Height (FH) Gain by Diagnostic Group
Time frame: Baseline through Year 15
The standard deviation score (SDS) reports the number of standard deviations from the mean for age and sex for an individual measurement (normal range is -2 to +2 SDS). Height SDS is derived by subtracting the population mean from individual's height value and then dividing that difference by the population standard deviation. Greater height SDS values indicate greater height. Due to the small number of participants involved, untreated and unknown treatment groups, data was not provided and could not be calculated.
6 secondary outcomes
Percentage of Participants With Defects in Genes Associated With Pituitary Development
Time frame: Baseline through Year 15
Predicted First Year Height Gain Versus Actual First Year Height Gain
Time frame: Baseline through Year 15
Change From Baseline to Final Height in Anthropometric Measures for Participants With SHOX Deficiency
Time frame: Baseline, Year 15
Percentage of Participants With Recurrent Neoplasms and Second Neoplasms in Childhood Cancer Survivors
Time frame: Baseline through Year 15
Percentage of Participants With De Novo Neoplasms
Time frame: Baseline through Year 15
Diabetes Mellitus (DM) in Somatropin-Treated Children With Different Short Stature Diagnoses
Time frame: Baseline through Year 15
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 May 2019.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Derived from this study: PubMed 30219920Child CJ, Zimmermann AG, Chrousos GP, Cummings E, Deal CL, Hasegawa T, Jia N, Lawrence S, Linglart A, Loche S, Maghnie M, Perez Sanchez J, Polak M, Predieri B, Richter-Unruh A, Rosenfeld RG, Yeste D, Yorifuji T, Blum WF. Safety Outcomes During Pediatric GH Therapy: Final Results From the Prospective GeNeSIS Observational Program. J Clin Endocrinol Metab. 2019 Feb 1;104(2):379-389. doi: 10.1210/jc.2018-01189.
- Derived from this study: PubMed 30201821Deal C, Kirsch S, Chanoine JP, Lawrence S, Cummings E, Rosolowsky ET, Marks SD, Jia N, Child CJ; GeNeSIS National Board on behalf of the GeNeSIS Canada Investigators. Growth hormone treatment of Canadian children: results from the GeNeSIS phase IV prospective observational study. CMAJ Open. 2018 Sep 10;6(3):E372-E383. doi: 10.9778/cmajo.20180020. Print 2018 Jul-Sep.
- Derived from this study: PubMed 28575299Quigley CA, Child CJ, Zimmermann AG, Rosenfeld RG, Robison LL, Blum WF. Mortality in Children Receiving Growth Hormone Treatment of Growth Disorders: Data From the Genetics and Neuroendocrinology of Short Stature International Study. J Clin Endocrinol Metab. 2017 Sep 1;102(9):3195-3205. doi: 10.1210/jc.2017-00214.
- Derived from this study: PubMed 24088548Blum WF, Deal C, Zimmermann AG, Shavrikova EP, Child CJ, Quigley CA, Drop SL, Cutler GB Jr, Rosenfeld RG. Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with idiopathic isolated GH deficiency. Eur J Endocrinol. 2013 Nov 22;170(1):13-21. doi: 10.1530/EJE-13-0643. Print 2014 Jan.
- Derived from this study: PubMed 23689058Deal C, Hasselmann C, Pfaffle RW, Zimmermann AG, Quigley CA, Child CJ, Shavrikova EP, Cutler GB Jr, Blum WF. Associations between pituitary imaging abnormalities and clinical and biochemical phenotypes in children with congenital growth hormone deficiency: data from an international observational study. Horm Res Paediatr. 2013;79(5):283-92. doi: 10.1159/000350829. Epub 2013 May 16.
- Derived from this study: PubMed 21490076Child CJ, Zimmermann AG, Scott RS, Cutler GB Jr, Battelino T, Blum WF; GeNeSIS International Advisory Board. Prevalence and incidence of diabetes mellitus in GH-treated children and adolescents: analysis from the GeNeSIS observational research program. J Clin Endocrinol Metab. 2011 Jun;96(6):E1025-34. doi: 10.1210/jc.2010-3023. Epub 2011 Apr 13.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Call 1-877-CTLILLY (1-877-285-4559) or 1-317-615-4559 Mon-Fri 9 AM - 5 PM Eastern time (UTC/GMT - 5 hours, EST) study director
Eli Lilly and Company
Questions about this trial
What is this clinical trial studying?
An observational study of Growth Hormone (GH) Deficiency and Short Stature Homeobox Containing Gene (SHOX) Deficiency, run by Eli Lilly and Company.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 May 2019. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 13 May 2019). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Type 2 Diabetes Mellitus in GH-treated Participants (time frame: Year 15). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01088412, which also lists 6 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 May 2019.