| CTRI Number |
CTRI/2013/02/003381 [Registered on: 12/02/2013] Trial Registered Retrospectively |
| Last Modified On: |
12/02/2013 |
| Post Graduate Thesis |
Yes |
| Type of Trial |
Observational |
|
Type of Study
|
Cross Sectional Study |
| Study Design |
Non-randomized, Active Controlled Trial |
|
Public Title of Study
|
Clinical and genetic study of defective gonadal development or function due to inadequate secretion of pituitary gonadotropins |
|
Scientific Title of Study
|
Genotype-Phenotype and Radiological Correlation of Idiopathic Hypogonadotropic Hypogonadism |
| Trial Acronym |
|
|
Secondary IDs if Any
|
| Secondary ID |
Identifier |
| NIL |
NIL |
|
|
Details of Principal Investigator or overall Trial Coordinator (multi-center study)
|
| Name |
Dr Nalini S Shah |
| Designation |
Professor and Head |
| Affiliation |
Seth G.S.Medical College and K.E.M.Hospital |
| Address |
Department of Endocrinology
Seth G.S.Medical College and K.E.M Hospital
Parel
Mumbai
Department of Endocrinology
Seth G.S.Medical College and K.E.M Hospital
Parel
Mumbai
Mumbai
MAHARASHTRA
400012
India |
| Phone |
02224162917 |
| Fax |
02224162883 |
| Email |
nalinishah@gmail.com |
|
Details of Contact Person
Scientific Query
|
| Name |
Sandhya Nair |
| Designation |
PhD student |
| Affiliation |
Seth G.S.Medical College and K.E.M.Hospital |
| Address |
Department of Endocrinology
Seth G.S.Medical College and K.E.M Hospital
Parel
Mumbai
Department of Endocrinology
Seth G.S.Medical College and K.E.M Hospital
Parel
Mumbai
Mumbai
MAHARASHTRA
400012
India |
| Phone |
02224162917 |
| Fax |
02224162883 |
| Email |
nairsandhya21@gmail.com |
|
Details of Contact Person
Public Query
|
| Name |
Dr Nalini S Shah |
| Designation |
Professor and Head |
| Affiliation |
Seth G.S.Medical College and K.E.M.Hospital |
| Address |
Department of Endocrinology
Seth G.S.Medical College and K.E.M Hospital
Parel
Mumbai
Department of Endocrinology
Seth G.S.Medical College and K.E.M Hospital
Parel
Mumbai
Mumbai
MAHARASHTRA
400012
India |
| Phone |
02224162917 |
| Fax |
02224162883 |
| Email |
nalinishah@gmail.com |
|
|
Source of Monetary or Material Support
|
|
|
Primary Sponsor
|
| Name |
Diamond Jubilee Society Trust |
| Address |
Diamond Jubilee Society Trust Seth G.S. Medical college and K.E.M Hospital
Parel |
| Type of Sponsor |
Government medical college |
|
|
Details of Secondary Sponsor
|
|
|
Countries of Recruitment
|
India |
|
Sites of Study
|
| No of Sites = 1 |
| Name of Principal
Investigator |
Name of Site |
Site Address |
Phone/Fax/Email |
| Dr Nalini Shah |
Department of Endocrinology |
Seth G.S.Medical College and K.E.M hospital
Mumbai
Mumbai
MAHARASHTRA |
02224162917
02224162883
nalinishah@gmail.com |
|
|
Details of Ethics Committee
|
| No of Ethics Committees= 1 |
| Name of Committee |
Approval Status |
| Committee for Academic Research Ethics |
Approved |
|
|
Regulatory Clearance Status from DCGI
|
|
|
Health Condition / Problems Studied
|
| Health Type |
Condition |
| Patients |
Idiopathic Hypogonadotropic Hypogonadism, |
|
|
Intervention / Comparator Agent
|
|
|
Inclusion Criteria
|
| Age From |
10.00 Year(s) |
| Age To |
50.00 Year(s) |
| Gender |
Both |
| Details |
Subjects presenting with poor secondary sexual characteristics with
a) Low Testosterone /Low Estradiol
b) Low or inappropriately normal FSH,
c) Low or inappropriately normal LH
|
|
| ExclusionCriteria |
| Details |
Patient with HH due to
1. Tumors
2. Infiltrative/Inflammatory disorders
3. Trauma
4. Radiation
5. Post surgery
6. Functional gonadotropin deficiency
7. Combined pituitary hormone deficiency
|
|
|
Method of Generating Random Sequence
|
Not Applicable |
|
Method of Concealment
|
Not Applicable |
|
Blinding/Masking
|
Not Applicable |
|
Primary Outcome
|
| Outcome |
TimePoints |
| Help in understanding the genetic basis of the disorder in Indian patients with IHH. Genetic counseling of the first degree relatives |
5 years |
|
|
Secondary Outcome
|
| Outcome |
TimePoints |
| The information so obtained will be used to construct a practical and cost-effective flow-chart for genetic testing and counseling in Indian patients. |
5 years |
|
|
Target Sample Size
|
Total Sample Size="200"
Sample Size from India="200"
Final Enrollment numbers achieved (Total)= "Applicable only for Completed/Terminated trials"
Final Enrollment numbers achieved (India)="Applicable only for Completed/Terminated trials" |
|
Phase of Trial
|
N/A |
|
Date of First Enrollment (India)
|
24/05/2010 |
| Date of Study Completion (India) |
Applicable only for Completed/Terminated trials |
| Date of First Enrollment (Global) |
Date Missing |
| Date of Study Completion (Global) |
Applicable only for Completed/Terminated trials |
|
Estimated Duration of Trial
|
Years="5"
Months="0"
Days="0" |
|
Recruitment Status of Trial (Global)
|
Not Applicable |
| Recruitment Status of Trial (India) |
Open to Recruitment |
|
Publication Details
|
|
|
Individual Participant Data (IPD) Sharing Statement
|
Will individual participant data (IPD) be shared publicly (including data dictionaries)?
|
|
Brief Summary
|
Hypogonadotrophic hypogonadism (HH) is a disorder of the hypothalamo-pituitary-gonadal (HPG) axis, manifesting as complete or partial failure of pubertal development. A developmental defect of the hypothalamus involving the GnRH pulse generator and/or the gonadotropes without an anatomic lesion causes the selective deficiency of gonadotropins, isolated hypogonadotropic hypogonadism (IHH) IHH is classified into two types on the basis of the presence or absence of normal sense of smell. Hyposmic/ Anosmic HH is due to abnormalities in KAL1, FGFR1, PROKR2, NELF, FGF8 and CHD7 genes whereas normosmic HH is due to defects in GnRHR, KISS1R, TAC3, TACR3, DAX1, snRNP, gonadotropin β subunits, leptin and leptin receptor gene and as yet to be discovered genes. However, no data is available for the Indian population. The current study aims to find the genotype, phenotype correlation of KAL1, FGFR1, GnRHR and KiSS1R in Asian Indian HH patients and their first degree relatives. |