Меню
Набор скоро начнётся NCT07587853

Genetic Variants in Idiopathic Premature Ovarian Insufficiency

— Наблюдательное Premature Ovarian Insufficiency

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают
Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
Кому может быть актуально
Состояния в реестре: Premature Ovarian Insufficiency. Базовые параметры: 18 лет — 39 лет · Женщины.
Что важно проверить
Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится
Turkey (Türkiye)
Следующий шаг
Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

Не всё понятно в терминах? Прочитайте наш гид для пациентов →

Официальное название

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

Обзор

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.

Первичные конечные точки

  • Prevalence of Pathogenic or Likely Pathogenic Variants in the Target Gene Set [Срок оценки: Through study completion, up to 24 months]

Критерии участия

Критерии включения

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.

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.

Критерии исключения

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.
  • 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.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Да

Дизайн исследования

Модель наблюдения
Случай-контроль

Центры проведения

Turkey (Türkiye) · 1 центр
  • University of Health Sciences Tepecik Training and Research Hospital, Department of Obstet — Bornova

Публикации

  • 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/dew PMID 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. PMID 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. PMID 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. PMID 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- PMID 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. PMID 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. PMID 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. PMID 25062452

Идентификаторы

NCT: NCT07587853 · POI-WES-2026-01

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗