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

LEPR Deficiency Obesity Clinical Trial

— NHS  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03621007
• Other study ID #: RM-493-016
• Status: Completed
• Start date: August 6, 2019
• Est. completion date: January 22, 2021

Study information

• Verified date: June 2021
• Source: Rhythm Pharmaceuticals, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 8
• Est. completion date: January 22, 2021
• Est. primary completion date: January 22, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 2 Years and older

Eligibility

Inclusion Criteria:

1. Age 2 years or older

2. 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.

3. Have documented results of DNA sequencing for the three genes of interest: POMC, PCSK1 and LEPR.

4. 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.

5. Patients who are willing to come in for routine office visits approximately every 6 months.

Exclusion Criteria:

1. Participation within the past 3 months in a clinical trial of any investigational medicine for obesity.

2. Confirmed diagnosis of Prader-Willi syndrome, Bardet-Biedl syndrome, Alström syndrome, or other syndromic form of genetic obesity.

Related Conditions & MeSH terms

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

Locations

Country	Name	City	State
Turkey	Dokuz Eylul Universitesi Tip Fakultesi	Balçova
Turkey	Ege University School of Medicine of Pediatric Endocrinology	Bornova
Turkey	Pediatric Endocrinology and Diabetes Marmara University Hospital	Istanbul

Sponsors (1)

Lead Sponsor	Collaborator
Rhythm Pharmaceuticals, Inc.

Country where clinical trial is conducted

Turkey, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Demographics	Descriptive summary of baseline characteristics including age, sex, ethnicity, and race.	Baseline
Primary	Medical history	Descriptive summary of medical history over time.	5 years
Primary	Clinical course	Descriptive summary of disease progression over time.	5 years