Clinical trial · Observational
Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate
The Genetics of Neuroendocrine Reproductive Disorders and of the Cleft Lip and/or Palate
NCT01601171CI-TRIAL-00059177recruitingClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
The purpose of this study is to explore the genetic basis of reproductive disorders and cleft lip and/or palate.
Conditions
Conditions (8)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cleft Lip | — | UNRESOLVED | — |
| Cleft Lip and Palate | — | UNRESOLVED | — |
| Cleft Palate | — | UNRESOLVED | — |
| Hypogonadotropic Hypogonadism | — | UNRESOLVED | — |
| Hypothalamic Amenorrhea | — | UNRESOLVED | — |
| Kallmann Syndrome | — | UNRESOLVED | — |
| Polycystic Ovarian Syndrome | — | UNRESOLVED | — |
| Precocious Puberty | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
No intervention recorded.
Design
Arms and outcomes
Arms (2)
- label
- Patients
- description
- 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
- label
- Family members
- description
- 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
Primary outcomes (1)
- measure
- rare sequence variant(s) in gene(s)
- timeFrame
- 1 year (ongoing if no variants are identified)
- description
- The investigators aim to discover genes associated with reproductive disorders by identifying rare sequence variants (mutations) in patients
Secondary outcomes (3)
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
Inclusion Criteria:(any of the following conditions) * 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 Exclusion Criteria: * acute illness/hospitalization * pituitary tumors * iron overload (hemochromatosis) * infiltrative diseases (sarcoidosis) * chronic alcohol abuse * illicit drug use * anabolic steroid abuse
References
Publications (2)
- RESULTMiraoui 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 23643382
- RESULTVillanueva 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 25394172