Clinical Trials Logo

Clinical Trial Summary

The aims of this study are: 1) to identify genes that play a role in human pubertal development and reproduction, 2) to characterize the phenotypic spectrum of patients with these gene defects, and 3) to discern the mode of inheritance for disorders caused by these gene defects. We are specifically interested in genes that cause Kallmann syndrome, idiopathic hypogonadotropic hypogonadism (IHH), precocious (early) puberty, and delayed puberty. Individuals do not have to travel to Boston to participate in this study.


Clinical Trial Description

Overview: Our work is divided into two main areas of investigation: 1. the discovery of new, yet-undiscovered genes for conditions of early (i.e. precocious) puberty, delayed puberty, and/or absence of pubertal development (i.e. Kallmann syndrome/hypogonadotropic hypogonadism). Identification of new genes requires either a single large family or a collection of smaller families. 2. a detailed examination of the genes already implicated in causing these conditions. There are several other important aspects about our program: - This analysis will detect DNA abnormalities only in those DNA segments being screened. The turnaround time to process a sample is approximately 12-24 months. We must receive a signed consent form in order to begin analysis on a blood sample. - Our laboratory is located in Massachusetts General Hospital, Boston MA and is largely funded by the National Institutes of Health. We are a research laboratory and not a CLIA certified clinical laboratory. - Even if a participant is the only member of his/her family affected by one of the conditions mentioned above, obtaining blood samples on other family members, including parents and siblings is often important to our work. - It is every individual's responsibility to notify the research team he/she would like to obtain research results. Research results will be relayed to the participant's healthcare provider and must be confirmed in a clinical laboratory before being relayed to the participant or used for medical care. Study Procedures and Risks - You will be asked to give approximately 3-5 tablespoons of blood for this research project. There is a risk of bruising and a very small amount of bleeding associated with blood drawing. - You will be asked to fill out a medical history checklist, indicating the presence or absence of clinical features that may be associated with abnormalities in pubertal development. - Since absence of puberty is sometimes associated with limited or no smell ability, you may be asked to try to identify the odors in a scratch and sniff test. This will take about 15 minutes. - Your family history can give us clues to determine how your condition was inherited. Therefore, a detailed family history, at least back to your grandparents will be obtained by a researcher. Benefits: There are no direct benefits to you from participation in this study. Some genes for this condition are known, other genes have yet to be discovered. If this study discovers what genes are responsible, it will help to further the understanding of this disorder. It is possible that the genetic cause of your reproductive disorder may be learned. This information can be shared with you at your request, as explained above. When contacting us, please include in your message a description of your diagnosis, your pubertal history (age when you hit pubertal hallmarks, e.g., growth spurt; body hair; voice deepening and genital growth for men; menstruation and breast development for women) and your reproductive history. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT00494169
Study type Observational
Source Massachusetts General Hospital
Contact
Status Completed
Phase
Start date January 1999
Completion date February 2022

See also
  Status Clinical Trial Phase
Completed NCT01438073 - Elucidating Kisspeptin Physiology by Blocking Kisspeptin Signaling Phase 1
Completed NCT01403532 - Sequential Therapy for Hypogonadotropic Hypogonadism Phase 4
Recruiting NCT00456274 - Baselines in Reproductive Disorders N/A
Terminated NCT05205837 - A Randomized, Double-blinded, Clinical, Placebo-controlled Trial on the Effects of Therapy With Letrozole and hUman Choriongonadotropin in Male Hypogonadism Induced by Illicit Use of Anabolic Androgenic Steroids- The LUCAS Trial Phase 4
Completed NCT02908074 - A 6 Month Safety Extension Study of MBGS205 Phase 2
Completed NCT05752591 - Hypothalamic-pituitary Dysfunction in Diabetes
Terminated NCT03118479 - Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism (IHH) Phase 1
Completed NCT02730169 - Safety and Efficacy of BGS649 in Male Obese Subjects With Hypogonadotropic Hypogonadism Phase 2
Completed NCT02110368 - Bioequivalence Study of Test and Reference Testosterone Topical Gel, 1.62% Metered Pump in Testosterone Deficient Adult Male Subjects Under Fasting Conditions Phase 3
Recruiting NCT01601171 - Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate
Completed NCT01623570 - Clinical Outcomes in WHO Type I Anovulatory Women Using r-hFSH+r-hLH in a 2:1 Ratio or hMG-HP N/A
Terminated NCT00328926 - Luveris® (Lutropin Alfa for Injection) in Women With Hypogonadotropic Hypogonadism (Luteinizing Hormone [LH] Less Than [<] 1.2 International Unit Per Liter [IU/L]) Phase 4
Completed NCT01438034 - Kisspeptin in the Evaluation of Delayed Puberty Phase 1
Completed NCT04456296 - A Study of the Effect of Testosterone Replacement Therapy on Blood Pressure in Adult Male Participants With Hypogonadism Phase 4
Recruiting NCT00914823 - Kisspeptin Administration in the Adult Phase 1
Terminated NCT01155518 - Hypogonadism in Young Men With Type 2 Diabetes Phase 2
Completed NCT00697814 - Clomiphene in Males With Prolactinomas and Persistent Hypogonadism Phase 2
Active, not recruiting NCT00351416 - Letrozole Treatment in Normal and GnRH Deficient Women Phase 2/Phase 3
Recruiting NCT05971836 - The Molecular Basis of Inherited Reproductive Disorders
Recruiting NCT02705014 - Efficacy of Pulsatile GnRH Therapy on Male Patients With Pituitary Stalk Interruption Syndrome N/A