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

NCT03621007 | Completed

• 1 other identifier: RM-493-016
• Study Type: observational
• Target: 8
• Locations: 1 country
• Sites: 3

Brief 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

Keywords

POMC; LEPR; PCSK1; Bi-Allelic Loss; Obesity

Outcome Measures

Primary Outcomes (3)

• 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

Study Arms (3)

POMC deficiency obesity

LEPR deficiency obesity

PCSK1 deficiency obesity

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with POMC, PCSK1 or LEPR deficiency obesity due to a bi-allelic loss of function genetic mutation will be enrolled in this study.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Rhythm Pharmaceuticals, Inc.: lead

Study Sites (3)

Dokuz Eylul Universitesi Tip Fakultesi

Balçova, 35340, Turkey (Türkiye)

Location

Ege University School of Medicine of Pediatric Endocrinology

Bornova, 35040, Turkey (Türkiye)

Location

Pediatric Endocrinology and Diabetes Marmara University Hospital

Istanbul, 34899, Turkey (Türkiye)

Location

MeSH Terms

Conditions

Obesity

Condition Hierarchy (Ancestors)

Overweight; Overnutrition; Nutrition Disorders; Nutritional and Metabolic Diseases; Body Weight; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Murray Stewart, MD

  Rhythm Pharmceuticals, Inc

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 30, 2018
• First Posted: August 8, 2018
• Study Start: August 6, 2019
• Primary Completion: January 22, 2021
• Study Completion: January 22, 2021
• Last Updated: June 30, 2021

Record last verified: 2021-06

Locations

TU (3)