Investigation of Prevalence and Clinical Effects of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations With DNA Sequence Analysis in Acromegaly Patients in Turkey
Acromegaly is a rare disease caused by growth hormone (GH) secreting pituitary adenoma in more than 95% of cases. Acromegaly can be seen sporadically or may be associated with a variety of genetic syndromes such as Multiple Endocrine Neoplasia Type 1, Carney Complex, familial isolated pituitary adenoma (FIPA) and Mc-Cune Albright Syndrome. The accompanying features of these syndromes and family history are helpful in the differential diagnosis. Aryl hydrocarbon receptor (AHR)-interacting protein (AIP) gene mutations can be seen sporadically as well as in FIPA. But the prescience of the presence of AIP mutation is limited by positive family history and early-onset of acromegaly. Furthermore, the probability of the patient to be the index case of the family should not be ignored. Screening for AIP gene mutation is recommended in patients with pituitary adenomas of childhood-onset, GH or prolactin secreting tumors who are diagnosed before the age of 30 years and positive family history in two or more family members according to present evidence in the literature. It is also known that AIP mutation is usually associated with more aggressive clinical behavior due to unclarified reasons. The prevalence of AIP mutation in Turkish population and types of mutations have not been defined previously. The primary aim of the present study is to define the AIP gene mutation prevalence and the relation with clinical and tumour behaviour in a subgroup of Turkish acromegalic patients. If AIP gene mutation is detected in some patients, it will be possible to screen the family of the patient for the presence of AIP mutation or at least for the presence of pituitary adenoma. Acromegalic patients who are followed in Erciyes University Medical School Department of Endocrinology will be enrolled into the study. After DNA isolation, each exon of AIP gene including splicing points will be reproduced by polymerase chain reaction (PCR) and will be analyzed for the presence of mutation by sequence analysis. The cases will be analyzed further in means of clinical features according to presence of AIP gene mutation. The prevalence of AIP gene mutation, clinical reflection of presence of AIP mutation will be determined and genetic consultation will be given to the carriers of AIP gene mutation at the end of the study.
NCT01902420 — Acromegaly
Status: Recruiting
http://inclinicaltrials.com/acromegaly/NCT01902420/
Non-interventional, Observational Study to Evaluate Common Therapeutic Algorithms and Possible Predictive Parameters for Somatuline Autogel® (ATG) Treatment in Subjects With Either Acromegaly or Neuroendocrine Tumours (NET)
The aim of the study is to identify predictive factors for the response to Lanreotide treatment in Acromegaly as well as in Neuroendocrine Tumours.
NCT01840449 — Acromegaly
Status: Completed
http://inclinicaltrials.com/acromegaly/NCT01840449/
Ectopic Lipid Deposition and Insulin Resistance in After Treatment of Acromegaly
This study investigates fat distribution in people with acromegaly. The investigator is also investigating the change of fat distribution before and after treatment of acromegaly. The investigator will compare the results of people with acromegaly to the results of healthy volunteers.
NCT01819883 — Acromegaly
Status: Completed
http://inclinicaltrials.com/acromegaly/NCT01819883/
A Prospective Study of Outcome After Therapy for Acromegaly
The purpose of this study is to evaluate hormone values and other markers of disease activity in a cohort of patients with acromegaly at the time of diagnosis and then prospectively after surgical or other treatment. This study is designed to determine blood levels of growth hormone and related hormones and cardiovascular risk markers as well as signs and symptoms of the disease at diagnosis and how these parameters change over time after surgical or other therapy. The investigators will also obtain hormonal data in a group of 50 healthy subjects who will each be studied just once with an oral glucose tolerance test (OGTT). These data will provide a comparison group to the acromegaly subjects.
NCT01809808 — Acromegaly
Status: Active, not recruiting
http://inclinicaltrials.com/acromegaly/NCT01809808/
Incidence and Late Prognosis of Acromegaly in Denmark From 1991 - 2010: Twenty Years of Medical Treatment
Aim: To assess the incidence rate, morbidity and mortality of acromegaly in Denmark.
NCT01752621 — Acromegaly
Status: Active, not recruiting
http://inclinicaltrials.com/acromegaly/NCT01752621/
Effect of Growth Hormone Receptor Antagonism and Somatostatin Analog Administration on Quality of Life
The investigators hypothesize that treatment of acromegaly will be associated with an improvement in quality of life compared to active acromegaly. At the same time, they will also be studying the effects of different acromegaly treatments on the quality of life.
NCT01732406 — Acromegaly
Status: Completed
http://inclinicaltrials.com/acromegaly/NCT01732406/
Somatostatin Analogue Treatment of Acromegaly: Molecular Aspects
The treatment with SA still leaves some questions unanswered. Firstly, SA treatment often results in a concomitant suppression of the insulin secretion, which might lead to clinically significant glucose intolerance. Secondly, the traditional evaluation of disease activity by measuring circulating levels of GH and total IGF-I is not reliable enough Hypotheses: Treatment of acromegaly with SA versus surgery alone is associated with: - Glucose intolerance despite normalized insulin sensitivity - Modified peripheral GH activity in peripheral target organs assessed on molecular endpoints
NCT01723748 — Acromegaly
Status: Completed
http://inclinicaltrials.com/acromegaly/NCT01723748/
Treatment of Acromegaly With Somatostatin Analogs: GH vs. IGF-I as Primary Biochemical Target
Treatment of acromegaly with somatostatin analogs (SA) is well-established and are primarily used after insufficient surgical intervention, but also as primary medical treatment in selected patients. Evaluation of treatment control is based on monitoring blood levels of growth hormone (GH) and insulin-like growth factor-I (IGF-I). However, evaluation of disease control during SA treatment is not always straightforward. It is usually based on normalization of IGF-I and achievement of a certain GH level. In approximately 40% of patients discordant values of GH and IGF-I levels are seen after treatment with SA, with normalized IGF-I levels, despite elevated GH levels. The mechanism behind this observation is unknown, but it indicates that SA may affect this difference. The primary objective of this study is to investigate if disease control during SA treatment is best achieved by monitoring either GH or IGF-I.
NCT01618513 — Acromegaly
Status: Completed
http://inclinicaltrials.com/acromegaly/NCT01618513/
FACIAL AND HAND ANALYSIS, SLEEP APNEA AND SPEECH IN PATIENTS WITH ACROMEGALY: A PROSPECTIVE STUDY TO INVESTIGATE CHANGES IN CRANIOFACIAL AND HAND CHARACTERISTICS, SLEEP APNEA AND SPEECH DURING TREATMENT AND AFTER REMISSION
Rationale: Acromegaly is the clinical syndrome that results from an excess of growth hormone (GH). Craniofacial and hand disproportions due to soft tissue swelling and new bone formation are highly prevalent in patients with active acromegaly. Besides the cosmetic aspects, these changes can impair the quality of life because of the significant morbidity with respect to oral, maxillofacial and hand pathologies as well as respiratory problems such as sleep apnea and changes in speech. At present it is unclear if these craniofacial and hand disproportions, sleep apnea and speech changes are (partially) reversible after successful treatment. Therefore there is no consensus about the information patients should be given about (partial) recovery of facial and hand disproportions after treatment and how the follow-up with respect to oral, maxillofacial, respiratory and hand pathology should be organized. Facial and hand analysis using a 3D stereophotograph and a 3D fusion model of a 3D stereophotograph and a 3D skull reconstruction via cone beam computed tomography (CT)-scan makes it possible to investigate the craniofacial changes due to acromegaly in all facial dimensions together (dentition, bone and soft tissue) and the relational proportions between these facial structures. 3D stereophotography can do the same for the soft tissues of the hand. Combined with disease specific and general quality of life (QOL) questionnaires, a correlation between quality of life and craniofacial and hand disproportions can be determined. Combined with sleep- and speech analysis, a correlation between sleep apnea, speech and craniofacial disproportions can be determined. Primary objective: To investigate the changes in facial- and hand analysis in patients with acromegaly as a result of medical treatment and pituitary surgery, and to investigate the changes in relational proportions between facial- and hand structures, incidence and severity of sleep apnea, incidence and severity of speech changes and QOL. Study design: a prospective case-control study. Study population: Approximately thirty patients newly diagnosed with acromegaly . The results of facial and hand analysis, sleep apnea research and speech analysis of the patient group in different phases of the disease will be compared to the results of a healthy control group. Main study parameters/endpoints: Parameters of facial analysis with 3D stereophotography and cone beam CT and hand analysis with 3D stereophotography , biochemical parameters of disease activity, disease related QOL assessed by 2 validated QOL questionnaires (,the AcroQol and RAND-36 ), speech analysis, the results of the voice handicap index questionnaire and severity of sleep apnea assessed by complete overnight polysomnography and the Epworth sleepiness scale questionnaire. Nature and extent of the burden and risks associated with participation, benefit and group relatedness: As a result of participating in this study, subjects have to undergo a cone beam CT. The cone beam CT is associated with exposure to X-ray radiation of 0.069-0.135mSv. This is the same amount of radiation as the amount of background radiation that each person receives in 7 days time during daily life. No adverse effects are expected from this amount of exposure. The investigations will take 10-70 minutes adjacent to every regular outpatient clinic visit. In addition , for polysomnography, subjects will be investigated overnight one or three times in 2,5 years, depending on the results of the first screening polysomnography. Assessment of changes in body appearance, sleep disturbances, speech changes and QOL in a prospective longitudinal fashion will increase the knowledge of the impact of the disease on patient perception of well-being and functioning and will help us refine the treatment goals in patients with acromegaly
NCT01612624 — Acromegaly
Status: Recruiting
http://inclinicaltrials.com/acromegaly/NCT01612624/
Calcium Homeostasis in Acromegaly: Effect of Surgical/Medical Treatment and Comparison With Nonfunctioning Pituitary Tumors.
The purpose of the study is to evaluate the Calcium homeostasis in adult patients with uncontrolled acromegaly. The measurements will be repeated 3-6 months after the treatment of acromegaly (surgical or medical). The control group consists of patients with nonfunctioning pituitary tumors who will undergo surgical removal.
NCT01568359 — Acromegaly
Status: Completed
http://inclinicaltrials.com/acromegaly/NCT01568359/