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Completed

NCT Number: 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

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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Key information

Conditions

POMC Deficiency Obesity Body Weight LEPR Deficiency Obesity Nutrition Disorders Nutritional and Metabolic Diseases Obesity Overnutrition Overweight PCSK1 Deficiency Obesity Pathological Conditions, Signs and Symptoms Signs and Symptoms

Age range

2 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Dokuz Eylul Universitesi Tip Fakultesi, Balçova, Turkey (Türkiye)

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Age 2 years or older
  • Study participant and/or parent or guardian is able to communicate well with the investigator, to understand and comply with the requirements of the study, and be able to understand and sign the written informed consent/assent.
  • Have documented results of DNA sequencing for the three genes of interest: POMC, PCSK1 and LEPR.
  • Bi-allelic, homozygous or compound heterozygous (a different gene mutation on each allele) genetic status for either the POMC or PCSK1 genes, resulting in a severe POMC deficiency obesity clinical phenotype, or a similar bi-allelic gene status for the LEPR gene leading to identified LEPR deficiency obesity.
  • Patients who are willing to come in for routine office visits approximately every 6 months.

Exclusion criteria

  • Participation within the past 3 months in a clinical trial of any investigational medicine for obesity.
  • Confirmed diagnosis of Prader-Willi syndrome, Bardet-Biedl syndrome, Alström syndrome, or other syndromic form of genetic obesity.

Treatment and study plan

Primary outcomes

  1. Demographics

    Time frame: Baseline

    Descriptive summary of baseline characteristics including age, sex, ethnicity, and race.

  2. Medical history

    Time frame: 5 years

    Descriptive summary of medical history over time.

  3. Clinical course

    Time frame: 5 years

    Descriptive summary of disease progression over time.

Sponsors and collaborators

Lead sponsor

Rhythm Pharmaceuticals, Inc.

Industry

Registry information

Acronym: NHS

Important dates

Study start
2019
Primary completion
2021
Study completion
2021
First posted
Aug 8, 2018
Registry last updated
Jun 30, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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