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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 (NHS)

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ClinicalTrials.gov Identifier: NCT03621007
Recruitment Status : Completed
First Posted : August 8, 2018
Last Update Posted : June 30, 2021
Sponsor:
Information provided by (Responsible Party):
Rhythm Pharmaceuticals, Inc.

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.

Condition or disease
POMC Deficiency Obesity PCSK1 Deficiency Obesity LEPR Deficiency Obesity

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Study Type : Observational
Actual Enrollment : 8 participants
Observational Model: Cohort
Time Perspective: Prospective
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
Actual Study Start Date : August 6, 2019
Actual Primary Completion Date : January 22, 2021
Actual Study Completion Date : January 22, 2021


Group/Cohort
POMC deficiency obesity
LEPR deficiency obesity
PCSK1 deficiency obesity



Primary Outcome Measures :
  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.



Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03621007


Locations
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Turkey
Dokuz Eylul Universitesi Tip Fakultesi
Balçova, Turkey, 35340
Ege University School of Medicine of Pediatric Endocrinology
Bornova, Turkey, 35040
Pediatric Endocrinology and Diabetes Marmara University Hospital
Istanbul, Turkey, 34899
Sponsors and Collaborators
Rhythm Pharmaceuticals, Inc.
Investigators
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Study Chair: Murray Stewart, MD Rhythm Pharmceuticals, Inc
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Responsible Party: Rhythm Pharmaceuticals, Inc.
ClinicalTrials.gov Identifier: NCT03621007    
Other Study ID Numbers: RM-493-016
First Posted: August 8, 2018    Key Record Dates
Last Update Posted: June 30, 2021
Last Verified: June 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Rhythm Pharmaceuticals, Inc.:
POMC
LEPR
PCSK1
Bi-Allelic Loss
Obesity
Additional relevant MeSH terms:
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Obesity
Overnutrition
Nutrition Disorders
Overweight
Body Weight