View clinical trials related to Dwarfism.
Filter by:This trial is conducted in the United States of America (USA). The purpose of the trial is to compare the effect of Norditropin® using different dosing regimens in children suspected of growth hormone deficiency.
This project is designed to answer the question: Is there an acute IGFBP-3 response in normal children? Our specific hypothesis states that under the influence of growth hormone secretagogues, intact IGFBP-3 molecule will undergo proteolysis and liberate IGFBP-3 fragments, along with other components of the ternary complex. This proteolysis will result in measurable rise in IGFBP-3, which will indicate the subject’s growth hormone status. Short children with growth hormone deficiency will not show an IGFBP-3 response.
The main purpose of this study is to establish an optimal monitoring regimen in NutropinAq treated children, using newly developed capillary blood spot IGF-1 measurement technology.
After approval of amendment (g), patients who were still receiving study drug at the time were scheduled for a study visit. In addition, patients who had discontinued early from the core, blinded phase of the study were contacted. All of these patients were offered the opportunity to enter the unblinded extension phase (if they met eligibility criteria) and continue somatropin treatment (regardless of initial treatment randomization) until they reached final height.
To assess the effect of long-term treatment by Genotonorm on linear growth
This study is intended to assess the effects of once daily dosing of recombinant human insulin-like growth factor (rhIGF-1) in increasing height velocity.
This trial is conducted in the United States of America (USA). This is a 12 month study to determine if Norditropin is safe and effective in children with IGF deficiency.
This study will determine whether adding more calories to the diet helps boys with growth problems grow better while being treated with Nutropin, a growth hormone that is used to help children grow taller. The Food and Drug Administration has approved Nutropin for use in children who are very short. This study will examine whether giving nutritional supplements in addition to Nutropin can help children grow better than with Nutropin alone. Boys between 7 and 10 years of age who are very short and below average in weight, but are otherwise healthy may be eligible for this study. Candidates must qualify for Nutropin treatments to boost their growth. Boys will be recruited for the study from the Nemours Children's Clinic in Jacksonville, FL, and from the National Institutes of Health in Bethesda, MD. Participants are randomly assigned to one of two treatment groups. One group is observed for 6 months and then receives a Nutropin injection every day for 12 months. The second group drinks 8 ounces of a high-calorie beverage called Pediasure every day for 6 months and then receives Nutropin plus Pediasure every day for 12 months. In addition to treatment, participants undergo the following tests and procedures at the schedule indicated: Baseline, 3, 6, 9, 12, 15 and 18 months - Clinical examination - Height measurement - Body composition assessment: Skin-fold thickness calipers are used in four places on the body to estimate body fat - Bioelectric impedance: A small amount of electrical current is used to calculate the percentage of body fat. Baseline, 6, 12, and 18 months - Blood tests - Bone age x-ray: x-ray of the left hand to measure growth potential - DEXA (dual energy x-ray absorptiometry) scan: x-ray scan to measure body fat, muscle, and bone mineral content. The subject lies on a flat table during the scan. Baseline, 6, and 12 months - Record of dietary intake: Parents are asked to write down everything the child eats and drinks for 3 days. Using this record, a dietitian calculates the daily caloric intake. - Total energy expenditure: This test determines how much energy the child uses. For the test, the child drinks water labeled with harmless isotopes (heavy oxygen and heavy hydrogen). For the next 10 days he collects urine in plastic tubes at home. At the end of the 10 days, the parents bring the urine to the clinic for analysis to determine how fast the labeled water leaves the body. This information is used to calculate how much energy the child expends each day. Participants' weight is measured at 2 and 4 weeks, and then monthly for the remainder of the 18-month study.
This study will determine the genes responsible for skeletal dysplasias (disorders of the skeleton) and short stature and define the range and type of medical problems they cause over time. It will investigate whether specific gene changes cause specific medical problems in these disorders and identify the signs and symptoms upon which their diagnoses must be based. Individuals with short stature or with a skeletal dysplasia known or suspected to be caused by a gene mutation (change) may be eligible for this study. Family members may also participate. Skeletal dysplasias under study include: achondroplasia, hypochondroplasia, achondrogenesis type II, hypochondrogenesis, Kniest dysplasia, spondyloepiphyseal dysplasias, Stickler syndrome; Shmid and Jansen metaphyseal dysplasias; pyknodysotosis, proximal symphalangism, brachydactyly types B C and E, Ellis van Creveld and related disorders, metatrophic chondrodysplasias, cartilage-hair hypoplasia and disorders with a skeletal abnormality that have not yet been defined but might be the result of a genetic defect. Patients will talk with two genetics specialists who will explain the study and its possible implications for the patient and family and answer questions. The patient's medical records will be reviewed, a personal and family history will be taken, and a physical examination will be done. Various other procedures that may be done include drawing up to 6 tablespoons of blood, some of which will be used for DNA (genetic) studies, X-rays, echocardiography (ultrasound of the heart), magnetic resonance imaging (MRI), eye examination, hearing test, sleep study, sperm analysis and skin biopsy (surgical removal of a small piece of skin done under local anesthetic). There may be additional evaluations by specialists in rheumatology, rehabilitation medicine and orthopedics. When the tests and examinations are completed (after 2 to 3 days), a doctor will discuss the results with the patient. Patients whose DNA studies show that a gene change is responsible for their disorder will meet with a genetics nurse or counselor to review the results, express their feelings and ask any questions they may have. Patients may be asked to return to NIH every 6 months to 2 years for continued follow-up. Medical management will be provided primarily by the patient's own physician. Participating family members will be interviewed by telephone about their personal and family health history and will have a blood sample drawn for DNA testing. If a gene change is found that is responsible for the bone disorder or growth problem in the family, arrangements will be made for the family member to discuss the implications of the findings with a genetics specialist.
Since the gene responsible for achondroplasia was identified in 1994, it has become possible to test for achondroplasia prenatally. Moreover, prenatal genetic testing for achondroplasia is relatively simple and is highly likely to be informative for any couple seeking testing. Four diagnostic laboratories in the U.S. are currently performing prenatal genetic testing for achondroplasia. Before prenatal genetic testing for achondroplasia becomes more widely available, however, it is essential that we learn more about the lives of affected individuals and their families, the implications of offering testing for achondroplasia, and the education and the counseling needs of this community. Personal interviews and stories have been published and discussed at national meetings (Ablon 1984). We conducted a pilot telephone interview survey of 15 individuals with achondroplasia. What is needed now is a large scale quantitative study of the community of little people and their families. To meet this need, we have developed a survey tool to analyze family relationships, quality of life, tendencies toward optimism or pessimism, information-avoiding or information-seeking behaviors, social support, involvement in Little People of America Inc. (LPA), self-esteem, sociodemographics and views on achondroplasia, religiousness, reproductive and family plans, genetic testing, and abortion. The self-administered survey will be completed nationally by a sample of persons with achondroplasia and their family members.