Clinical trial NCT06167135: Polycystic Ovary Syndrome, Mitochondrial Dysfunction, Obesity, Insulin Resistance Infertility (POMODORI) Cohort
Official title: Polycystic Ovary Syndrome, Insulin Resistance, Infertility, Obesity, and the Associated Mitochondrial Dysfunction With These Disorders in Hungarian Patients
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Infertility, Female
Polycystic Ovary Syndrome
Insulin Resistance
Primary Ovarian Insufficiency
Mitochondrial Alteration
Obesity
Keywords: Polycystic Ovary Syndrome
Insulin Resistance
Female Infertility
Obesity
Mitochondrial Dysfunction
Mitochondrial Alteration
Primary Ovarian Insufficiency
Lead sponsor: Semmelweis University
Sponsor class: OTHER
First posted: 2023-12-12
Enrollment: 150
Sex: FEMALE
Minimum age (years): 20
Maximum age (years): 45
Standard ages: ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Female patients of fertile age (between 20-45 years) who are being treated for insulin resistance and/or polycystic ovary syndrome, infertility, multi-organ symptoms, or possible primary ovarian insufficiency.

Brief summary: Enrolling of 150 female patients of fertile age diagnosed with PCOS, insulin resistance, infertility, or mitochondrial disease, and the same number of age- and sex-matched controls are planned.

During the research biomarkers already with mitochondrial dysfunction in the scientific literature and common mtDNA abnormalities (deletions, point mutations, copy number changes, etc.) are examined.

Detailed description: Mitochondrial dysfunction can be involved in the development of clinically heterogeneous diseases affecting multiple tissues and organs and can manifest at any age. Clinical signs are mainly manifested in the most energy-demanding tissues, such as the central nervous system, striated muscles, cardiac musculature, endocrine glands, liver, kidney, and sensory organs.

Polycystic ovarian syndrome (PCOS) is a multifactorial disorder with endocrine dysfunction characterized by ovulatory dysfunction, obesity, insulin resistance (IR), hirsutism, mild persistent inflammation, and ultrasonographically confirmed polycystic ovarian morphology. PCOS affects 5-15% of women of reproductive age. PCOS and IR are also common and treatable causes of infertility. As a result of delaying childbearing until later in life, this problem is affecting more and more couples. In the present study, the investigators hypothesize that PCOS, IR, and infertility associated with these conditions may also be a manifestation of mitochondrial dysfunction, the role of mitochondrial dysfunction in these conditions has been investigated to a limited extent based on the current literature.

Recent literature has shown that mitochondrial dynamics and morphology are two of the major factors in the development of insulin resistance and diabetes mellitus by regulating glucose metabolism. The investigators of this study cohort hypothesize that PCOS and IR may also be a manifestation of a primary mitochondrial pathology, the prevalence of IR and PCOS in primary mitochondrial patients has not yet been investigated based on the current literature. Recent literature suggests that mitochondrial dynamics and morphology are two of the main factors in the development of insulin resistance and diabetes mellitus by regulating glucose metabolism.

In the present experimental design, mitochondrial dynamics, bioenergetics, and autophagy pathways are hypothesized to play a key role in the pathomechanisms of PCOS and IR. A better understanding of the role of mitochondrial pathways in the pathophysiology of PCOS and IR may help to develop new biomarkers or therapeutic targets.

Eligibility criteria: Inclusion Criteria:

* Presence of polycystic ovary syndrome (PCOS) or insulin resistance (IR) associated with other multisystemic phenotypes, mitochondrial dysfunction
* history of infertility associated with other multisystemic phenotypes, mitochondrial dysfunction
* a known history of mitochondrial dysfunction and PCOS and/or IR
* general health is good and there is no serious general medical condition that would prevent participation would make participation highly risky

Exclusion Criteria:

* poor cooperation
* refusal to participate in the study

Primary outcomes:
measure: Serum Glucose and Insulin Levels
timeFrame: One year
measure: Clinical Pregnancy Rate
timeFrame: One year
Secondary outcomes:
measure: Baseline Female Sex Hormone Levels and Thyroid Hormone Levels
timeFrame: One year
Other outcomes:
measure: Body Mass Index (BMI)
timeFrame: One year
measure: Metformin dose
timeFrame: One year
measure: GLP-1 receptor agonist dose
timeFrame: One year
Locations:
city: Budapest
country: Hungary
facility: Semmelweis University
Study officials:
References: