Investigation of Copy Number Variations and Genetic Variants in POI

Recruiting now

Conditions studied: Primary Ovarian Insufficiency

In brief

Primary ovarian insufficiency (POI), also known as premature ovarian failure, is an ovarian defect characterized by the premature (before the age of 40 years) depletion of ovarian follicles. POI affects about 1% of women, reaching 30% in some familial cases. This heterogeneous disorder is characterized by progressive cessation of the ovarian function with temporary or intermittent amenorrhea associated with elevated serum FSH concentration and low AMH dosage. Low serum AMH dosage is able to detect a diminished ovarian pool occurring before the onset of FSH elevation and the ultimate deficiency leading to amenorrhea. POI causes infertility and a poor ovarian response in IVF stimulations, and it has important health consequences for affected patients, including psychological distress, infertility, osteoporosis, autoimmune disorders, ischaemic heart disease. Although the cause of POI remains unknown in about 80% of the cases, several mechanisms have been proposed to explain ovarian dysfunction. Currently, a wide spectrum of causes has been linked to POI, including genetic, autoimmune, infectious, or iatrogenic ones. Genetic causes are highly heterogeneous and might explain at least some of the sporadic idiopathic cases, which comprise 50-90% of cases. Ten to fifteen percent of cases are X-linked abnormalities, mainly Turner Syndrome (45,X) or X structural abnormalities such as X deletions, X inversions, isochromosomes or X-autosome translocations. Also fragile X mental retardation 1 (FMR1) gene permutation (defined as having 55 to 200 CGG repeats in the 5' untranslated region of the gene) is another frequent genetic etiology. Irrespectively, the majority of cases remains idiopathic, and identifying precise causative genes for POI has been challenging.

Key facts

Study ID

NCT05327283

Run by

Ospedale Policlinico San Martino

People needed

100

Starts

2012-01-31

Expected to finish

2030-12-31

Last updated by the study team

2022-04-25

Who can join

Age: 15 and older, up to 38. Sex: female. Healthy volunteers: not accepted.

You may qualify if…

• age at diagnosis <38 years;
• a normal 46,XX karyotype (no FRM1 premutation);
• at least one marker of ovarian reserve not age-appropriate:
• baseline FSH levels > cut-off [1] and/or
• age-specific AMH < cut-off [2] and/or
• AFC < 5; and/or
• cancellation of a PMA cycle because of poor response (<3 follicles) to high-dose gonadotrophins (250 U/die) and/or
• retrieval of < 4 oocytes in response to high-dose stimulation protocols (3000 U of gonadotrophins).

You may not qualify if…

• patients with POI-related conditions, such as ovarian surgery or previous chemo- or radio-therapy; endometriosis or known autoimmune or metabolic diseases.

Where it is running

• UOS Fisiopatologia della Riuproduzione Umana — Genova, Italy (enrolling)

Full record on ClinicalTrials.gov

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