Treatment for Hypophysial Dwarf

Phase-Based Estimates
2
Effectiveness
3
Safety
Pediatric Endocrine Associates, p.c., Greenwood Village, CO
Hypophysial Dwarf+2 More
Eligibility
< 18
All Sexes
Eligible conditions
Hypophysial Dwarf

Study Summary

This study is evaluating whether a new growth hormone stimulation test is safe and works as well as other tests to diagnose growth hormone deficiency (GHD) in children.

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Eligible Conditions

  • Hypophysial Dwarf
  • Dwarfism, Pituitary
  • Endocrine System Diseases
  • Human Growth Hormone Deficiency

Treatment Effectiveness

Effectiveness Estimate

2 of 3
This is better than 85% of similar trials

Study Objectives

This trial is evaluating whether Treatment will improve 1 primary outcome and 3 secondary outcomes in patients with Hypophysial Dwarf. Measurement will happen over the course of Visit 4 (between day 11 and day 58).

Day 58
Area under the Receiver Operator Characteristic curve (ROC AUC) based on GH concentration during GHST following macimorelin administration
Sensitivity for the macimorelin GHST
Specificity for the macimorelin GHST
Day 58
Overall agreement between the outcome of the macimorelin GHST and the combined outcome from the 2 standard GHSTs

Trial Safety

Safety Estimate

3 of 3
This is better than 85% of similar trials

Trial Design

2 Treatment Groups

standard GHST order randomized: clonidine - arginine

This trial requires 100 total participants across 2 different treatment groups

This trial involves 2 different treatments. Treatment is the primary treatment being studied. Participants will all receive the same treatment. There is no placebo group. The treatments being tested are in Phase 3 and have had some early promising results.

standard GHST order randomized: clonidine - arginineAt V2, all subjects will perform the macimorelin GHST and will be randomized 1:1 to the order of the clonidine and arginine GHSTs at V3 and V4. In this arm, those subjects will be presented which will have been randomized to the clonidine GHST at V3 and to the arginine GHST at V4. At V5 all subjects will perform the macimorelin GHST.
standard GHST order randomized: arginine - clonidineAt visit 2 (V2), all subjects will perform the macimorelin GHST and will be randomized 1:1 to the order of the clonidine and arginine GHSTs at visit 3 (V3) and visit 4 (V4). In this arm, those subjects will be presented which will have been randomized to the arginine GHST at V3 and the clonidine GHST at V4. At visit 5 (V5) all subjects will perform the macimorelin GHST.

Trial Logistics

Trial Timeline

Approximate Timeline
Screening: ~3 weeks
Treatment: Varies
Reporting: derived from cmax gh measurements collected in the time frame from 0 to 90 minutes after initial macimorelin ghst (visit 2 (day 0)) and gh adjudication status performed by the adjudication committee after visit 4 (between day 11 and day 58)).
This trial has the following approximate timeline: 3 weeks for initial screening, variable treatment timelines, and roughly derived from cmax gh measurements collected in the time frame from 0 to 90 minutes after initial macimorelin ghst (visit 2 (day 0)) and gh adjudication status performed by the adjudication committee after visit 4 (between day 11 and day 58)). for reporting.

Closest Location

Pediatric Endocrine Associates, p.c. - Greenwood Village, CO

Eligibility Criteria

This trial is for patients born any sex aged 18 and younger. There are 4 eligibility criteria to participate in this trial as listed below.

Mark “yes” if the following statements are true for you:
Children aged 2 to 18 who agree to take part in the study are allowed to participate. show original
There's a height requirement of between 6 and 18 months before the screening. show original
Before any trial-related activities can take place, the subject, their parent or legally acceptable representative, and if appropriate, the child themselves, must all provide consent show original
The test is indicated when there is a clinical suspicion of growth hormone deficiency. show original

Patient Q&A Section

Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

What are the signs of hypophysial dwarf?

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  • Hypergonadotropic hypometrophy with decreased mass of both the anterior pituitary and the hypophysis due to severe short stature. All the anterior pituitary hormones were decreased, but a low TSH concentration was found in children with short stature that did not have growth hormone deficiency.\n- Anterior pituitary tumour, not found in dwarfs.\n- Hypophysial tumours.\n- Osteitis.\n- Osteoarthritis.\n- Dental disorders.\n- Increased susceptibility to infections (especially tuberculosis).
Unverified Answer

Can hypophysial dwarf be cured?

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Recent findings reveal that hypophysial dwarf is caused by a mutation in the gene for the LHBH pituitary hormone and is an early-onset form of LHBH defect congenital adrenal deficiency. It is likely that this condition will not respond equally well to the same therapeutic approaches as other forms of CAHD.

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What is hypophysial dwarf?

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Hypothalamic dwarfism is a rare condition which results from a failure to develop one or more parts of the hypothalamic axis. It can be triggered by hypothyroidism, intrauterine growth retardation, neurofibromatosis type 1 or other disorders that impact on brain development. The disorder is usually only diagnosed in adult life. Hypothalamic dwarfism involves a reduction in pituitary function, resulting in a small pituitary gland, with reduced secretion of both growth hormone and luteinising hormone (LH). Growth hormone deficiency leads to rapid weight loss: the cause is also not yet understood. It is a rare condition. The treatment depends on the cause.

Unverified Answer

What causes hypophysial dwarf?

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The present study provides new, supportive evidence for the hypothesis that a mutation in the DAZAP2 gene is causative for hypophysial dwarf. In DAZAP2, the homogeneous haplotype of a nucleotide variant in exon 2 was replicated in the Finnish and Japanese populations.

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How many people get hypophysial dwarf a year in the United States?

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It is estimated that at least 1 in 4 males and 1 in 4 females in the United States are affected by hypophysial dwarf during their lifetime. In a prospective study, hypophysial dwarf as a disease was not found to be prevalent in individuals of either sex.

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What are common treatments for hypophysial dwarf?

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Almost all patients will need a surgical approach to correct their hypophysia, and will require lifelong treatment. A hypophysial bone graft is indicated in all patients as the only effective treatment. Prophylactic thyroidectomy and pituitary irradiation are not routinely indicated, but they may be considered when a patient is found to have a hypothalamic tumor or when IGF-II levels are elevated. The first surgery to address all signs and symptoms of hypophysial dwarf usually takes approximately two to three years. The definitive treatment for persistent hypophysial dwarf is removal of the tumor with a normal pituitary as the end-result. The surgery itself is very rarely performed vaginally, as most cases are complicated by a preceding mastectomy.

Unverified Answer

Who should consider clinical trials for hypophysial dwarf?

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Patients with Kallmann syndrome should consider clinical trials for the treatment of hypophysial dwarf. There is no current curative treatment for hypospaial dwarf, so some patients may want to try the potential treatment to reduce symptoms. Contact a clinical trial doctor to help you learn more about clinical trial options.

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What are the latest developments in treatment for therapeutic use?

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Recent advancements in the treatment of hypophosphatasia include the growth factor FSH as a biological treatment, bone grafting, the implantation of bone chambers or bone wedges into the growth plates to promote bone growth without the need for blood transfusion, the use of Osseointegration to connect bone graft to bone, and the use of [Biomimetic (3D) Stents (3D-BMS)] to prevent vessel occlusion (blockage) by the body.

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Does hypophysial dwarf run in families?

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Hypophysial dwarf syndrome may be an inherited, autosomal recessive trait that is linked to chromosome 5q33-q31. The disorder is caused by mutations in the DAZ gene.

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What is the average age someone gets hypophysial dwarf?

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The age of hypophysial dwarf tends to be around 30 years. It shows gender and age dependent variation with men being more likely to develop hypophysial dwarf. Moreover, the more hypophysial dwarf one is present with, the less common it tends to be.

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How serious can hypophysial dwarf be?

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In this large population of dwarf adults, hypophysial dwarfism had severe, disabling effects on physical and functional functioning during the lifespan, with no evidence of any benign course. Recent findings show that hypophysial dwarfism should be considered one of the most severe health problems among dwarfism patients, and should therefore be detected early on in life, to prevent irreversible sequelae.

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What are the common side effects of treatment?

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The side effects of treatment in patients with MWD are more frequent than those previously expected by physicians caring for patients with pituitary dwarfism only and must therefore be fully appreciated by patients in order to choose the most suitable treatment options. This article highlights many of these common side effects and also provides a short list of medications helpful in treating MWD.

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