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).
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.