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This is an observational study. There are no protocol-defined visits, although patients are expected to have routine office visits approximately every 6 months. Upon signing of informed consent/assent and study enrollment, historical data will be abstracted from the patient's medical chart. The patient will then be observed prospectively for up to 5 years, with additional data collected from routine healthcare encounters and direct-to-patient questionnaires (where local laws allow), including laboratory tests, physical exam and patient reported outcomes/quality of life measures. Patients will be consented/assented to provide blood samples for biomarker assessments, DNA sequencing and archiving.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| POMC deficiency obesity | |||
| LEPR deficiency obesity | |||
| PCSK1 deficiency obesity |
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| Measure | Description | Time Frame |
|---|---|---|
| Demographics | Descriptive summary of baseline characteristics including age, sex, ethnicity, and race. | Baseline |
| Medical history | Descriptive summary of medical history over time. | 5 years |
| Clinical course | Descriptive summary of disease progression over time. | 5 years |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with POMC, PCSK1 or LEPR deficiency obesity due to a bi-allelic loss of function genetic mutation will be enrolled in this study.
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| Name | Affiliation | Role |
|---|---|---|
| Murray Stewart, MD | Rhythm Pharmceuticals, Inc | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Dokuz Eylul Universitesi Tip Fakultesi | Balçova | 35340 | Turkey (Türkiye) | |||
| Ege University School of Medicine of Pediatric Endocrinology |
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| Bornova |
| 35040 |
| Turkey (Türkiye) |
| Pediatric Endocrinology and Diabetes Marmara University Hospital | Istanbul | 34899 | Turkey (Türkiye) |
| ID | Term |
|---|---|
| D009765 | Obesity |
| ID | Term |
|---|---|
| D050177 | Overweight |
| D044343 | Overnutrition |
| D009748 | Nutrition Disorders |
| D009750 | Nutritional and Metabolic Diseases |
| D001835 | Body Weight |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
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