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Premature Ovarian InsufficiencyNCT07587853

Genetic Variants in Idiopathic Premature Ovarian Insufficiency

An observational study of Premature Ovarian Insufficiency, run by Abdurrahman Hamdi İnan at 1 site in Turkey (Türkiye).

Not yet recruiting

Opening soon. The study is approved but enrolment has not started yet. Sites may already take enquiries.

Sites and contacts
Official record
Search all trials

Trial summary

Premature ovarian insufficiency is a condition in which ovarian function decreases or is lost before the age of 40 years. In many patients, the underlying cause remains unexplained. Read more about this study

Who is it for?
Ages 18 to 39 years, women onlyHealthy volunteers can take part
Conditions the study is for
Premature Ovarian Insufficiency
How many people
100 participants
Where
1 siteTurkey (Türkiye)
Study dates
10 Jun 2026to 10 Jun 2028
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 to 39 years
  • Women only
  • Healthy volunteers accepted
  • Adult

Study population: The study population will consist of women aged 18 to 39 years who are evaluated at the Department of Obstetrics and Gynecology/Reproductive Endocrinology clinics. The case group will include women diagnosed with idiopathic premature ovarian insufficiency, defined by spontaneous amenorrhea or marked menstrual irregularity lasting at least 4 months and elevated serum FSH levels. The control group will include age- and ethnicity-matched women with regular menstrual cycles, normal ovarian reserve findings for age, and no known history of infertility, premature ovarian insufficiency, gonadotoxic treatment, or ovarian surgery.

Who may be able to join

  • For the idiopathic premature ovarian insufficiency group:
  • Women aged 18 to 39 years.
  • Spontaneous amenorrhea or marked menstrual irregularity lasting at least 4 months.
  • Serum FSH level greater than 25 IU/L. In cases of diagnostic uncertainty, FSH measurement may be repeated after 4 to 6 weeks.
  • Diagnosis of idiopathic premature ovarian insufficiency, with no known chromosomal abnormality, FMR1 premutation, defined syndromic genetic diagnosis, or iatrogenic cause.
  • Willingness to participate in the study and ability to provide written informed consent.
Show all 13Show fewer
  • For the control group:
  • Women aged 18 to 39 years.
  • Regular menstrual cycles.
  • Age-appropriate normal ovarian reserve findings, including FSH and AMH values within age-appropriate reference ranges and, when available, appropriate antral follicle count.
  • No known history of infertility, premature ovarian insufficiency, or early menopause.
  • No history of gonadotoxic treatment or ovarian surgery.
  • Willingness to participate in the study and ability to provide written informed consent.

Who cannot join

  • For both groups:
  • Known chromosomal abnormality, such as Turner syndrome or structural X chromosome abnormality.
  • FMR1 premutation carrier status.
  • Previously defined syndromic genetic diagnosis.
  • Active malignancy.
  • History of gonadotoxic chemotherapy or pelvic radiotherapy.
Show all 14Show fewer
  • Iatrogenic ovarian damage or iatrogenic premature ovarian insufficiency after ovarian surgery.
  • Clear autoimmune, endocrine, or other clinical condition that may explain secondary amenorrhea.
  • Refusal to provide informed consent or request to withdraw study data.
  • Insufficient DNA sample quality or inability to complete genetic analysis for technical reasons.
  • Additional exclusion criteria for the control group:
  • Known history of infertility, premature ovarian insufficiency, or early menopause.
  • Ovarian reserve findings below the expected range for age.
  • Previous gonadotoxic treatment or ovarian surgery.

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

Çağlasu Sancaktar, MD contact

+90 507 258 3948

caglasukeles@gmail.com

Turkey (Türkiye)1 site
  • University of Health Sciences Tepecik Training and Research Hospital, Department of Obstetrics and Gynecology

    Bornova, İzmir, 35100

    Çağlasu Sancaktar, MD, +90 507 258 3948, caglasukeles@gmail.com

Other trials in Turkey (Türkiye)

About this study

Official title: Investigation of Pathogenic Variants in DNA Repair and Meiotic Genes Associated With Ovarian Reserve and Folliculogenesis in Idiopathic Premature Ovarian Insufficiency Using Whole Exome Sequencing: A Case-Control Study

Premature ovarian insufficiency is a condition in which ovarian function decreases or is lost before the age of 40 years. In many patients, the underlying cause remains unexplained. This prospective observational case-control study aims to investigate pathogenic and likely pathogenic genetic variants in DNA repair and meiotic genes related to ovarian reserve and folliculogenesis in women with idiopathic premature ovarian insufficiency.

The study will include women younger than 40 years with idiopathic premature ovarian insufficiency and age- and ethnicity-matched control participants with normal ovarian function. Clinical and reproductive data will be collected, and a peripheral blood sample will be obtained from each participant for whole exome sequencing. The frequency of pathogenic or likely pathogenic variants will be compared between the case and control groups. No investigational drug, device, or treatment intervention will be administered.

Medical subject headings
Primary Ovarian Insufficiency

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT07587853
Study groupRoleWhat they receive
Idiopathic Premature Ovarian Insufficiency GroupWomen younger than 40 years diagnosed with idiopathic premature ovarian insufficiency, defined by spontaneous amenorrhea or menstrual irregularity lasting at least 4 months and serum FSH level greater than 25 IU/L, with no known chromosomal abnormality, FMR1 premutation, syndromic genetic diagnosis, or iatrogenic cause.
Control GroupWomen younger than 40 years with regular menstrual cycles, age-appropriate ovarian reserve findings, no known history of infertility or premature ovarian insufficiency, no previous gonadotoxic treatment, and no history of ovarian surgery. The control group will be selected to be similar to the case group in terms of age and ethnicity.

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Prevalence of Pathogenic or Likely Pathogenic Variants in the Target Gene Set

    Proportion of participants in each group who carry pathogenic or likely pathogenic variants, classified according to ACMG/AMP criteria, in the predefined 57-gene target set related to ovarian reserve, folliculogenesis, DNA repair, and meiosis.

    Measured: Through study completion, up to 24 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted14 May 2026
  2. Study start10 Jun 2026 (estimated)
  3. Primary completion10 Jun 2028 (estimated)
  4. Study completion10 Jun 2028 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Case-control
Time perspective
Prospective
Enrolment
100 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT07587853
Sponsor's protocol ID
POI-WES-2026-01
Status last verified
May 2026
First submitted
29 Apr 2026
Last updated
19 May 2026
Results posted
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
Undecided

Publications

  • European Society for Human Reproduction and Embryology (ESHRE) Guideline Group on POI; Webber L, Davies M, Anderson R, Bartlett J, Braat D, Cartwright B, Cifkova R, de Muinck Keizer-Schrama S, Hogervorst E, Janse F, Liao L, Vlaisavljevic V, Zillikens C, Vermeulen N. ESHRE Guideline: management of women with premature ovarian insufficiency. Hum Reprod. 2016 May;31(5):926-37. doi: 10.1093/humrep/dew027. Epub 2016 Mar 22.

    PubMed 27008889
  • Chapman C, Cree L, Shelling AN. The genetics of premature ovarian failure: current perspectives. Int J Womens Health. 2015 Sep 23;7:799-810. doi: 10.2147/IJWH.S64024. eCollection 2015.

    PubMed 26445561
  • Qin Y, Jiao X, Simpson JL, Chen ZJ. Genetics of primary ovarian insufficiency: new developments and opportunities. Hum Reprod Update. 2015 Nov-Dec;21(6):787-808. doi: 10.1093/humupd/dmv036. Epub 2015 Aug 4.

    PubMed 26243799
  • Bouilly J, Beau I, Barraud S, Bernard V, Azibi K, Fagart J, Fevre A, Todeschini AL, Veitia RA, Beldjord C, Delemer B, Dode C, Young J, Binart N. Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency. J Clin Endocrinol Metab. 2016 Dec;101(12):4541-4550. doi: 10.1210/jc.2016-2152. Epub 2016 Sep 7.

    PubMed 27603904
  • Heddar A, Ogur C, Da Costa S, Braham I, Billaud-Rist L, Findikli N, Beneteau C, Reynaud R, Mahmoud K, Legrand S, Marchand M, Cedrin-Durnerin I, Cantalloube A, Peigne M, Bretault M, Dagher-Hayeck B, Perol S, Droumaguet C, Cavkaytar S, Nicolas-Bonne C, Elloumi H, Khrouf M, Rougier-LeMasle C, Fradin M, Le Boette E, Luigi P, Guerrot AM, Ginglinger E, Zampa A, Fauconnier A, Auger N, Paris F, Brischoux-Boucher E, Cabrol C, Brun A, Guyon L, Berard M, Riviere A, Gruchy N, Odent S, Gilbert-Dussardier B, Isidor B, Piard J, Lambert L, Hamamah S, Guedj AM, Brac de la Perriere A, Fernandez H, Raffin-Sanson ML, Polak M, Letur H, Epelboin S, Plu-Bureau G, Wolczynski S, Hieronimus S, Aittomaki K, Catteau-Jonard S, Misrahi M. Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine. EBioMedicine. 2022 Oct;84:104246. doi: 10.1016/j.ebiom.2022.104246. Epub 2022 Sep 10.

    PubMed 36099812
  • Titus S, Li F, Stobezki R, Akula K, Unsal E, Jeong K, Dickler M, Robson M, Moy F, Goswami S, Oktay K. Impairment of BRCA1-related DNA double-strand break repair leads to ovarian aging in mice and humans. Sci Transl Med. 2013 Feb 13;5(172):172ra21. doi: 10.1126/scitranslmed.3004925.

    PubMed 23408054
  • Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, Garcia-Tunon I, Fellous M, Pendas AM, Veitia RA, Vilain E. Mutant cohesin in premature ovarian failure. N Engl J Med. 2014 Mar 6;370(10):943-949. doi: 10.1056/NEJMoa1309635.

    PubMed 24597867
  • de Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L. Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency. J Clin Endocrinol Metab. 2014 Oct;99(10):E2129-32. doi: 10.1210/jc.2014-1268. Epub 2014 Jul 25.

    PubMed 25062452
  • Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E. XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. Am J Hum Genet. 2011 Oct 7;89(4):572-9. doi: 10.1016/j.ajhg.2011.09.006. Epub 2011 Sep 29.

    PubMed 21963259
  • Suh EK, Yang A, Kettenbach A, Bamberger C, Michaelis AH, Zhu Z, Elvin JA, Bronson RT, Crum CP, McKeon F. p63 protects the female germ line during meiotic arrest. Nature. 2006 Nov 30;444(7119):624-8. doi: 10.1038/nature05337. Epub 2006 Nov 22.

    PubMed 17122775
  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

    PubMed 25741868
  • Lee S, Abecasis GR, Boehnke M, Lin X. Rare-variant association analysis: study designs and statistical tests. Am J Hum Genet. 2014 Jul 3;95(1):5-23. doi: 10.1016/j.ajhg.2014.06.009.

    PubMed 24995866

Questions about this trial

What is this clinical trial studying?

An observational study of Premature Ovarian Insufficiency, run by Abdurrahman Hamdi İnan at 1 site in Turkey (Türkiye).

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 13 inclusion and 14 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: opening soon, as of the sponsor's last update on 19 May 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Çağlasu Sancaktar, MD (+90 507 258 3948, caglasukeles@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Prevalence of Pathogenic or Likely Pathogenic Variants in the Target Gene Set (time frame: Through study completion, up to 24 months). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT07587853, which also lists 12 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 May 2026.

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