NCT03621007

An Observational,Prospective Natural History Study of Early-Onset Extreme Obesity Due to Bi-Allelic Loss-of-Function Mutations in the POMC, PCSK1 or LEPR Genes

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 8 (actual)
• Sponsor: Rhythm Pharmaceuticals, Inc. · Industry
• Sex: All
• Age: 2 Years
• Healthy volunteers: Not accepted

Summary

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.

Conditions

• POMC Deficiency Obesity
• PCSK1 Deficiency Obesity
• LEPR Deficiency Obesity

Timeline

• Start date: 2019-08-06
• Primary completion: 2021-01-22
• Completion: 2021-01-22
• First posted: 2018-08-08
• Last updated: 2021-06-30

Locations

3 sites across 1 country: Turkey (Türkiye)