Genetic Forms of Extreme ObesityNCT03479437
The TEMPO (Tracing the Effect of the MC4 Pathway in Obesity) Registry
An observational study of Genetic Forms of Extreme Obesity, run by Rhythm Pharmaceuticals, Inc. at 2 sites in 2 countries.
Trial summary
A voluntary prospective study that will allow registration and follow-up of individuals with MC4R pathway genetic obesity. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Genetic Forms of Extreme Obesity
- How many people
- 303 participants
- Where
- 2 sitesin 2 countries
- Study dates
- 15 Apr 2018to 1 Dec 2020
- How long will I take part?
- 5 Years
- 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: Extreme obesity in adults age 18 or older defined as a BMI >40 kg/m2 or subjects from age 2 through age 18 years with a BMI value that is >1.4 times the corresponding age/gender 95th percentile value will be eligible. Second, specific genotypic criteria involving defined major genes contributing to genetic obesity disorders will also be required for enrollment. Patients will be eligible to participate in the registry regardless of gender or geographic location. Other genetic forms of obesity may be added to this list as pathogenetic etiologies and the potential involvement of specific genes in the hypothalamus upstream or downstream of the MC4R become better understood. All known patients, or their caregivers, will be invited to participate. As new patients resulting from novel gene variants or defects are identified, registry patient enrollment will continue on an ongoing basis.
Who may be able to join
- Extreme obesity patients aged 2 years and older.
- Extreme obesity defined as:
- BMI > 40 kg/m2 in patients 18 years of age or older.
- BMI value that is >1.4 times the corresponding age/gender 95th percentile value in patients who are 2 through 17 years of age.
- At least one of the following genotypes:
- Bi-allelic (homozygous or compound heterozygous) POMC, PCSK1, LEPR variants leading to the physician-confirmed diagnosis of either POMC or LEPR deficiency obesity.
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- The presence of high-confidence, high-impact genetic variations (homozygote, compound heterozygote, heterozygote or composite heterozygote [i.e., heterozygous variants in more than a single gene]) in these same 3 genes (POMC, PCSK1 and LEPR) associated with the clinical presentation of extreme obesity
- The presence of other high-confidence, high-impact genetic variations (homozygote, compound heterozygote, heterozygote or composite heterozygote in the MC4R gene or other upstream MC4R-pathway genes and selected variants downstream in the MC4R-pathway (Table 1) that are carried by extreme obesity patients who do not demonstrate specific syndromic obesity clinical presentations. Selected Bardet-Biedl syndrome (BBS1 through BBS21) genetic variants or Alström syndrome (ALMS) genetic variants possibly contributing to non-syndromic forms of clinical extreme obesity will be eligible for enrollment.
- Study participant and/or parent or caregiver can understand and comply with the requirements of the study, and able to understand and sign the written informed consent (IC)/assent, after being informed about the study.
Who cannot join
- Patients with syndromic forms of obesity such as Bardet-Biedl syndrome or Alström syndrome. These patients will be referred to existing registries for these specific syndromic obesity (e.g., Clinical Registry in Bardet-Biedl syndrome [CRIBBS] for BBS patients).
- Individual is, in the opinion of the study investigator, not suitable to participate in the study.
Trial locations and contacts
2 sites in 2 countries.
2 sites in 2 countries
United States1 site
Nationwide Children's Hospital
Columbus, Ohio, 43205
About this study
Official title: The TEMPO (Tracing the Effect of the MC4 Pathway in Obesity) Registry Involving Variants in Hypothalamic Genes Upstream or Downstream From the Melanocortin-4 Receptor (MC4R)
A voluntary prospective study that will allow registration and follow-up of individuals with MC4R pathway genetic obesity.
Read the detailed description
Potential patients will be referred to coordinating centers by their healthcare provider (treating physician, diagnosing physician or primary care physician) and if eligible will be invited to enroll in the registry. The Registry Coordinating Center will be responsible for obtaining consent from adult patients and caregivers of minor patients (as well as assent from minors when appropriate), screening patients and enrolling them in the registry.
The registry will capture data entered by the patient, the patient's healthcare provider, and the patient's caregiver using online (electronic) survey tools administered at baseline, and annually thereafter. The patient's healthcare provider will complete the baseline Healthcare Provider survey tool, reporting the patient's baseline demographics, medical history, clinical information, and disease characteristics. The patient and caregiver will complete their dedicated baseline survey tools answering questions on the impact of disease on their everyday life. Survey tools include questions on patient and caregiver demographics, patient physical activity, patient food and hunger episodes, patient quality of life, and caregiver's perspective of disease burden on the family. Registry patients, caregivers, and healthcare providers will be contacted annually (approximately every 12 months) by the Registry Coordinating Center to complete an online follow-up survey tool including a smaller subset of questions from the baseline survey tools.
- Conditions
- Genetic Forms of Extreme Obesity
- Keywords
- Obesity, Melanocortin, TEMPO, MC4R, Genetic Obesity, hypothalamic, POMC, LEPR, PCSK1
- Medical subject headings
- Obesity
What is being measured
The primary outcome is the main question the study is designed to answer.
Assessment of Quality of Life
Evaluate the quality of life through annual patient and caregiver reported surveys.
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 posted27 Mar 2018
- Study start15 Apr 2018
- Primary completion1 Dec 2020
- Study completion1 Dec 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic Forms of Extreme 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
- Other
- Time perspective
- Prospective
- Enrolment
- 303 participants (actual)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Rhythm Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Ihuoma Eneli, Principal investigator, Nationwide Children's HospitalLiz Stoner, Study chair, Rhythm Pharmaceuticals, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03479437
- Sponsor's protocol ID
- RM-493-020
- Status last verified
- Apr 2021
- First submitted
- 12 Mar 2018
- Last updated
- 4 May 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 4 May 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The TEMPO (Tracing the Effect of the MC4 Pathway in Obesity) Registry Involving Variants in Hypothalamic Genes Upstream or Downstream From the Melanocortin-4 Receptor (MC4R)
- ClinicalTrials.gov ID
- NCT03479437
- Acronym / sponsor ID
- RM-493-020
- Conditions
- Genetic Forms of Extreme Obesity
- Keywords
- Obesity, Melanocortin, TEMPO, MC4R, Genetic Obesity, hypothalamic, POMC, LEPR
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 303 participants (actual)
- Lead sponsor
- Rhythm Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- 15 Apr 2018 (actual)
- Primary completion
- 1 Dec 2020 (actual)
- Study completion
- 1 Dec 2020 (actual)
- First posted
- 27 Mar 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.
A voluntary prospective study that will allow registration and follow-up of individuals with MC4R pathway genetic obesity.
Detailed description
Potential patients will be referred to coordinating centers by their healthcare provider (treating physician, diagnosing physician or primary care physician) and if eligible will be invited to enroll in the registry. The Registry Coordinating Center will be responsible for obtaining consent from adult patients and caregivers of minor patients (as well as assent from minors when appropriate), screening patients and enrolling them in the registry.
The registry will capture data entered by the patient, the patient's healthcare provider, and the patient's caregiver using online (electronic) survey tools administered at baseline, and annually thereafter. The patient's healthcare provider will complete the baseline Healthcare Provider survey tool, reporting the patient's baseline demographics, medical history, clinical information, and disease characteristics. The patient and caregiver will complete their dedicated baseline survey tools answering questions on the impact of disease on their everyday life. Survey tools include questions on patient and caregiver demographics, patient physical activity, patient food and hunger episodes, patient quality of life, and caregiver's perspective of disease burden on the family. Registry patients, caregivers, and healthcare providers will be contacted annually (approximately every 12 months) by the Registry Coordinating Center to complete an online follow-up survey tool including a smaller subset of questions from the baseline survey tools.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Target follow-up
- 5 Years
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Extreme obesity in adults age 18 or older defined as a BMI >40 kg/m2 or subjects from age 2 through age 18 years with a BMI value that is >1.4 times the corresponding age/gender 95th percentile value will be eligible. Second, specific genotypic criteria involving defined major genes contributing to genetic obesity disorders will also be required for enrollment. Patients will be eligible to participate in the registry regardless of gender or geographic location. Other genetic forms of obesity may be added to this list as pathogenetic etiologies and the potential involvement of specific genes in the hypothalamus upstream or downstream of the MC4R become better understood. All known patients, or their caregivers, will be invited to participate. As new patients resulting from novel gene variants or defects are identified, registry patient enrollment will continue on an ongoing basis.
Key inclusion criteria (9 listed)
- Extreme obesity patients aged 2 years and older.
- Extreme obesity defined as:
- At least one of the following genotypes:
- Study participant and/or parent or caregiver can understand and comply with the requirements of the study, and able to understand and sign the written informed consent (IC)/assent, after being informed about the study.
Key exclusion criteria (2 listed)
- Patients with syndromic forms of obesity such as Bardet-Biedl syndrome or Alström syndrome. These patients will be referred to existing registries for these specific syndromic obesity (e.g., Clinical Registry in Bardet-Biedl syndrome [CRIBBS] for BBS patients).
- Individual is, in the opinion of the study investigator, not suitable to participate in the study.
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
Assessment of Quality of Life
Time frame: 5 years
Evaluate the quality of life through annual patient and caregiver reported surveys.
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 4 May 2021.
- Individual participant dataSharing planned: Undecided
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.
Ihuoma Eneli principal investigator
Nationwide Children's Hospital
Liz Stoner study chair
Rhythm Pharmaceuticals, Inc.
2 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Forms of Extreme Obesity, run by Rhythm Pharmaceuticals, Inc. at 2 sites in 2 countries.
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 9 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 4 May 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States, Canada. 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?
Assessment of Quality of Life (time frame: 5 years). 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 4 May 2021.