POMC Deficiency ObesityNHSNCT03621007
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
An observational study of POMC Deficiency Obesity and PCSK1 Deficiency Obesity, run by Rhythm Pharmaceuticals, Inc. at 3 sites in Turkey (Türkiye).
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. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- POMC Deficiency Obesity, PCSK1 Deficiency Obesity, LEPR Deficiency Obesity
- How many people
- 8 participants
- Where
- 3 sitesTurkey (Türkiye)
- Study dates
- 6 Aug 2019to 22 Jan 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
3 sites in 1 country.
Turkey (Türkiye)3 sites
Dokuz Eylul Universitesi Tip Fakultesi
Balçova, 35340
Ege University School of Medicine of Pediatric Endocrinology
Bornova, 35040
Pediatric Endocrinology and Diabetes Marmara University Hospital
Istanbul, 34899
About this study
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.
- Keywords
- POMC, LEPR, PCSK1, Bi-Allelic Loss, Obesity
- Medical subject headings
- Obesity
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| POMC deficiency obesity | Not described | |
| LEPR deficiency obesity | Not described | |
| PCSK1 deficiency obesity | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Demographics
Descriptive summary of baseline characteristics including age, sex, ethnicity, and race.
Measured: Baseline
Medical history
Descriptive summary of medical history over time.
Measured: 5 years
Clinical course
Descriptive summary of disease progression over time.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Aug 2018
- Study start6 Aug 2019
- Primary completion22 Jan 2021
- Study completion22 Jan 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for POMC Deficiency ObesityStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 8 participants (actual)
Sponsor and investigators
- Lead sponsor
- Rhythm Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Murray Stewart, MD, Study chair, Rhythm Pharmceuticals, Inc
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03621007
- Sponsor's protocol ID
- RM-493-016
- Acronym
- NHS
- Status last verified
- Jun 2021
- First submitted
- 30 Jul 2018
- Last updated
- 30 Jun 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Jun 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT03621007
- Acronym / sponsor ID
- NHS / RM-493-016
- Keywords
- POMC, LEPR, PCSK1, Bi-Allelic Loss, Obesity
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 8 participants (actual)
- Lead sponsor
- Rhythm Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- 6 Aug 2019 (actual)
- Primary completion
- 22 Jan 2021 (actual)
- Study completion
- 22 Jan 2021 (actual)
- First posted
- 8 Aug 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| POMC deficiency obesity | – | – |
| LEPR deficiency obesity | – | – |
| PCSK1 deficiency obesity | – | – |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Demographics
Time frame: Baseline
Descriptive summary of baseline characteristics including age, sex, ethnicity, and race.
Medical history
Time frame: 5 years
Descriptive summary of medical history over time.
Clinical course
Time frame: 5 years
Descriptive summary of disease progression over time.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Jun 2021.
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Early Genetic Identification of Obesity
Obesity, Childhood, Hyperphagia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Murray Stewart, MD study chair
Rhythm Pharmceuticals, Inc
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of POMC Deficiency Obesity and PCSK1 Deficiency Obesity, run by Rhythm Pharmaceuticals, Inc. at 3 sites in Turkey (Türkiye).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 30 Jun 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Demographics (time frame: Baseline). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Jun 2021.