NCT01601171

Brief Summary

The purpose of this study is to explore the genetic basis of reproductive disorders and cleft lip and/or palate.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
2,000

participants targeted

Target at P75+ for all trials

Timeline
46mo left

Started Mar 2012

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress79%
Mar 2012Mar 2030

Study Start

First participant enrolled

March 1, 2012

Completed
3 months until next milestone

First Submitted

Initial submission to the registry

May 15, 2012

Completed
2 days until next milestone

First Posted

Study publicly available on registry

May 17, 2012

Completed
12.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 1, 2025

Completed
5 years until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2030

Expected
Last Updated

June 21, 2022

Status Verified

June 1, 2022

Enrollment Period

13 years

First QC Date

May 15, 2012

Last Update Submit

June 17, 2022

Conditions

Kallmann SyndromeHypogonadotropic HypogonadismHypothalamic AmenorrheaPolycystic Ovarian SyndromePrecocious PubertyCleft Lip and PalateCleft PalateCleft Lip

Keywords

GnRH deficiencyhypogonadismanosmiainfertilitycleft lipcleft palatecryptorchidismmicrophallus

Outcome Measures

Primary Outcomes (1)

  • rare sequence variant(s) in gene(s)

    The investigators aim to discover genes associated with reproductive disorders by identifying rare sequence variants (mutations) in patients

    1 year (ongoing if no variants are identified)

Secondary Outcomes (3)

  • functionality of identified rare sequence variants (mutations)

    1 year (following variant identification)

  • mode of inheritance

    1 year (following variant identification)

  • genotype-phenotype correlation

    1 year (following variant identification)

Study Arms (2)

Patients

Patients with reproductive disorders with or without cleft lip/palate will be recruited for: * completion of medical questionnaire and review of medical records * family tree (including questions on reproductive disorders and cleft lip/palate) * specimen collection (DNA/RNA) from: serum/plasma/saliva/urine/buccal swab/hair follicles/sperm/skin biopsy * smell testing * hearing test * bone density * brain MRI * kidney, testicular/ovarian ultrasound

Family members

Family members of Patients will be recruited for: * completion of medical questionnaire * specimen collection (DNA/RNA) from: serum/plasma/saliva/urine/buccal swab/hair follicles/sperm/skin biopsy * smell testing

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Study participants will be a convenience sample of those patients with reproductive disorders (and their family members), with or without cleft lip/palate, who are interested in participating in this genetic study.

You may qualify if:

  • hypogonadotropic hypogonadism
  • Kallmann syndrome
  • adult-onset hypogonadotropic hypogonadism
  • hypothalamic amenorrhea
  • polycystic ovarian syndrome
  • primary gonadal failure
  • precocious puberty
  • cleft lip/palate
  • family members of the above groups

You may not qualify if:

  • acute illness/hospitalization
  • pituitary tumors
  • iron overload (hemochromatosis)
  • infiltrative diseases (sarcoidosis)
  • chronic alcohol abuse
  • illicit drug use
  • anabolic steroid abuse

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Centre Hospitalier Universitaire Vaudois (CHUV)

Lausanne, Canton of Vaud, 1011, Switzerland

RECRUITING

Related Publications (2)

  • Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008.

    PMID: 23643382RESULT

  • Villanueva C, Jacobson-Dickman E, Xu C, Manouvrier S, Dwyer AA, Sykiotis GP, Beenken A, Liu Y, Tommiska J, Hu Y, Tiosano D, Gerard M, Leger J, Drouin-Garraud V, Lefebvre H, Polak M, Carel JC, Phan-Hug F, Hauschild M, Plummer L, Rey JP, Raivio T, Bouloux P, Sidis Y, Mohammadi M, de Roux N, Pitteloud N. Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. Genet Med. 2015 Aug;17(8):651-9. doi: 10.1038/gim.2014.166. Epub 2014 Nov 13.

    PMID: 25394172RESULT

Related Links

Biospecimen

Retention: SAMPLES WITH DNA

whole blood, serum/plasma, white blood cells, DNA

MeSH Terms

Conditions

Kallmann SyndromeHypogonadismPolycystic Ovary SyndromePuberty, PrecociousCleft LipCleft PalateAnosmiaInfertilityCryptorchidismPenis agenesis

Condition Hierarchy (Ancestors)

Disorder of Sex Development, 46,XYDisorders of Sex DevelopmentUrogenital AbnormalitiesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, InbornGonadal DisordersEndocrine System DiseasesOvarian CystsCystsNeoplasmsOvarian DiseasesAdnexal DiseasesGenital Diseases, FemaleGenital DiseasesLip DiseasesMouth DiseasesStomatognathic DiseasesMouth AbnormalitiesStomatognathic System AbnormalitiesJaw AbnormalitiesJaw DiseasesMusculoskeletal DiseasesMaxillofacial AbnormalitiesCraniofacial AbnormalitiesMusculoskeletal AbnormalitiesOlfaction DisordersSensation DisordersNeurologic ManifestationsNervous System DiseasesSigns and SymptomsPathological Conditions, Signs and SymptomsTesticular DiseasesGenital Diseases, Male

Study Officials

  • Nelly Pitteloud, M.D.

    Centre Hositalier Universitaire Vaudois (CHUV)

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Emmanuelle Paccou

CONTACT

+41 79 556 60 13emmanuelle.paccou@chuv.ch

Michela Adamo, MD

CONTACT

+41 079 556 85 14michela.adamo@chuv.ch

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
OTHER
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor of Medicine, Chief of Service

Study Record Dates

First Submitted

May 15, 2012

First Posted

May 17, 2012

Study Start

March 1, 2012

Primary Completion

March 1, 2025

Study Completion (Estimated)

March 1, 2030

Last Updated

June 21, 2022

Record last verified: 2022-06

Locations

CH(1)