Homozygous Familial HypercholesterolemiaLOWERNCT02135705
LOWER: Lomitapide Observational Worldwide Evaluation Registry
An observational study of Homozygous Familial Hypercholesterolemia, run by Amryt Pharma at 71 sites in 8 countries.
Trial summary
This global product exposure registry is a multicentre, long-term, prospective, observational cohort study (exposure registry), designed to evaluate the long term safety and effectiveness of lomitapide. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Homozygous Familial Hypercholesterolemia
- What is being tested?
- Lomitapide
- How many people
- 260 participants
- Where
- 71 sitesin 8 countries
- Study dates
- 18 Mar 2014to 27 Apr 2026
- How long will I take part?
- 10 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients treated with lomitapide who agree to participate in the study.
Who may be able to join
- Patients of all ages, including minors, who have initiated commercial treatment with lomitapide prior to or at time of registry enrolment.
- Patients who have the ability to understand the requirements of the study and provide written informed consent to comply with the study data collection procedures or paediatric patients with the consent of a parent or legal guardian.
- Patients ≥7 years of age (or above the age determined by the IRB/EC and in accordance with the local regulations and requirements) must also provide written informed assent forms.
Who cannot join
- Patients who are receiving lomitapide in clinical trials or through compassionate use, where patients are followed under a separate protocol.
- Patients receiving an investigational agent, defined as any drug or biologic agent other than lomitapide that has not received market authorization in the country of participation, at time of lomitapide initiation and continuing to receive an investigational agent at time of registry enrolment. These patients may be enrolled if receiving lomitapide when the investigational agent is discontinued..
Trial locations and contacts
71 sites in 8 countries.
71 sites in 8 countries
United States46 sites
The Heart Care Group, PC
Allentown, Pennsylvania, 18103
Piedmont Heart Institute
Atlanta, Georgia, 30309
University of Colorado Health
Aurora, Colorado, 80045
Cardiovascular Specialists of Texas
Austin, Texas, 78758
St. Luke's University Health Network - Pennsylvania
Bethlehem, Pennsylvania, 18015
Brookwood Baptist Medical Center
Birmingham, Alabama, 35209
Preventative Cardiology, Inc.
Boca Raton, Florida, 33434
The University of Vermont Health Network
Burlington, Vermont, 05401-1473
Cardiology Specialists of the Carolinas PA
Charlotte, North Carolina, 28204
Cardiology Specialists Of Carolina
Charlotte, North Carolina, 28211
Palmetto Health
Columbia, South Carolina, 29203
Northern Arizona Healthcare
Cottonwood, Arizona, 86326
Atlanta Heart Specialists
Cumming, Georgia, 30041
Northside Hospital, Inc.
Cumming, Georgia, 30041
Baylor Scott & White Health
Dallas, Texas, 75226
Lehigh Valley Hospital And Health Network
East Stroudsburg, Pennsylvania, 18301
Arkansas Heart Center
Fort Smith, Arkansas, 72901
317 Saint Francis Dr.
Greenville, South Carolina, 29601
Comprehensive Cardiovascular Care
Gurnee, Illinois, 60031
Cardiovascular Institute of the South
Houma, Louisiana, 70360
Community Health Network
Indianapolis, Indiana, 46250
St. Vincent Medical Group, Inc.
Indianapolis, Indiana, 46290
Cedars-Sinai Medical Center
Los Angeles, California, 90048
Ascension
Milwaukee, Wisconsin, 53211
Medical College of Wisconsin
Milwaukee, Wisconsin, 53226
Minneapolis Heart Institute Foundation
Minneapolis, Minnesota, 55407
Springhill Physician Practices
Mobile, Alabama, 36608
West Virginia University Medicine
Morgantown, West Virginia, 26506
Henry County Medical Center
New Castle, Kentucky, 40050
Murray Hill Medical Group
New York, New York, 10016
Alfieri Cardiology
Newark, Delaware, 19713
Methodist Physicians Clinic
Omaha, Nebraska, 68114
Cardiology Consultants of Philadelphia
Philadelphia, Pennsylvania, 19107
Thomas Jefferson University Health System
Philadelphia, Pennsylvania, 19148
Scottsdale Family Health
Phoenix, Arizona, 85018
201 Route 17 North
Rutherford, New Jersey, 07070
HealthEast Care System
Saint Paul, Minnesota, 55102
Stern Cardiovascular Foundation
Southaven, Mississippi, 38671
Complete Family Care Cholesterol Treatment Center
Sterling Heights, Michigan, 48314
NY Heart Center
Syracuse, New York, 13210
Pediatric Cardiology Associates
Syracuse, New York, 13210
Get Well Immediate Care
Towson, Maryland, 21204
Pima Heart
Tucson, Arizona, 85718
Aspirus Research Institute
Wausau, Wisconsin, 54401
Florida Lipid Institute
Winter Park, Florida, 32792-2223
Valley Medical Group
Wyckoff, New Jersey, 07481
Italy12 sites
Azienda Ospedaliero Universi consorziale policlinico di Bari
Bari, Bari, 70120
Policlinico S. Orsola-Malpighi
Bologna, BO, 40138
Azienda Ospedaliera G. Brotzu
Cagliari, CA, 09134
ASST Grande Ospedale Metropolitano Niguarda
Milan, MI, 20162
Azienda Ospedaliera Specialistica Dei Colli
Naples, 80131
Azienda Ospedaliera Universitaria Federico II
Naples, 80131
Azienda Ospedaliero-Universitaria San Luigi Gonzaga
Orbassano, TO, 10043
Azienda Ospedaliera Universita di Padova
Padova, PD, 35128
Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone
Palermo, PA, 90127
CNR Regione Toscana - Fondazione Toscana Gabriele Monasterio
Pisa, Pisa, 56124
Università degli Studi di Roma La Sapienza
Roma, RM, 00161
Università degli Studi di Roma La Sapienza
Roma, Rome, 00161
Canada4 sites
Ecogene-21
Chicoutimi, Quebec, G7H7K9
Nova Scotia Health Authority
Halifax, Nova Scotia, B3H2Y9
Robarts Research Institute
London, Ontario, N6A5B7
McGill University
Montreal, Quebec, H4A3J1
France3 sites
Centre Hospitalier Universitaire Lyon
Bron, Lyon, 69677
Centre Hospitalier Régional Universitaire de Lille
Lille, Cedex, 59037
Centre Hospitalier Universitaire Strasbourg
Strasbourg, 67000
Greece2 sites
University General Hospital of Ioannina
Ioannina, 45500
Metropolitan Hospital
Piraeus, Piraeus, 18547
Netherlands2 sites
Radboud Universiteit Medisch Centrum
Nijmegen, Gelderland, 6525 GA
Erasmus Medisch Centrum
Rotterdam, South Holland, 3015 GD
United Kingdom1 site
Imperial College Healthcare - NHS Trust
London, London, W12 0NN
About this study
This global product exposure registry is a multicentre, long-term, prospective, observational cohort study (exposure registry), designed to evaluate the long term safety and effectiveness of lomitapide.
Read the detailed description
To evaluate the occurrence of adverse events of special interest, long term effectiveness of lomitapide, and to evaluate whether prescribers of lomitapide are following screening and monitoring recommendations as specified in product labeling.
- Conditions
- Homozygous Familial Hypercholesterolemia
- Being tested
- Lomitapide
- Medical subject headings
- Homozygous Familial Hypercholesterolemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
LomitapideDrug
Also called Juxtapid, Lojuxta
As prescribed by Physician.
| Study group | Role | What they receive |
|---|---|---|
| Lomitapide | Lomitapide as prescribed by Physician. Receives: Drug: Lomitapide |
What is being measured
The primary outcome is the main question the study is designed to answer.
Hepatic Abnormalities
to evaluate the occurrence of hepatic abnormalities
Measured: patients will be followed for 10 years
Secondary outcomes (8)
Gastrointestinal (GI) Events
to evaluate the occurrence of GI events
Measured: patients will be followed for 10 years
Tumors
to evaluate any occurrence of tumors (small bowel, hepatic, colorectal or pancreatic)
Measured: patients will be followed for 10 years
Events associated with coagulopathy
to evaluate the occurrence of events associated with coagulopathy (abnormal bleeding, cerebral haemorrhage or GI bleeding)
Measured: patients will be followed for 10 years
Major Adverse Cardiovascular Events (MACE) events
to evaluate the occurrence of MACE events
Measured: patients will be followed for 10 years
Death, including cause of death
to evaluate the occurrence and cause of death
Measured: patients will be followed for 10 years
Pregnancy
to evaluate the occurrence and outcomes of pregnancy in females of reproductive potential treated with lomitapide. Patients who become pregnant will be offered enrolment into a separate Pregnancy Exposure Registry (PER).
Measured: patients will be followed for 10 years
Serum lipid levels
to evaluate the long-term effectiveness of lomitapide in maintaining control of serum lipid levels in a clinical practice setting.
Measured: patients will be followed for 10 years
Prescriber behavior
to evaluate whether prescribers of lomitapide enrolled at registry sites are following the screening and monitoring recommendations as specified in the PI and the prescriber educational materials aimed at risk minimization.
Measured: patients will be followed for 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 May 2014 (estimated)
- Study start18 Mar 2014
- Primary completion27 Apr 2026
- Study completion27 Apr 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Homozygous Familial HypercholesterolemiaStudies 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
- 260 participants (actual)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Amryt Pharma
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Janet Boylan, Study director, Amryt Pharmaceuticals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02135705
- Sponsor's protocol ID
- AEGR-733-025
- Acronym
- LOWER
- Status last verified
- May 2026
- First submitted
- 10 Apr 2014
- Last updated
- 12 May 2026
- Results posted
- No
- Data monitoring committee
- No
Publications
Blom DJ, Larrey D, Makris L, Underberg J, O'Brien S. Long-term treatment of homozygous familial hypercholesterolemia with lomitapide: 11 years of safety and effectiveness findings from the Lomitapide Observational Worldwide Evaluation Registry. J Clin Lipidol. 2026 Jul 30:S1933-2874(26)00457-5. doi: 10.1016/j.jacl.2026.07.028. Online ahead of print.
PubMed 42613196Larrey D, D'Erasmo L, O'Brien S, Arca M; Italian Working Group on Lomitapide. Long-term hepatic safety of lomitapide in homozygous familial hypercholesterolaemia. Liver Int. 2023 Feb;43(2):413-423. doi: 10.1111/liv.15497. Epub 2022 Dec 30.
PubMed 36520008Giammanco A, Cefalu AB, Noto D, Averna MR. Therapeutic Options for Homozygous Familial Hypercholesterolemia: The Role of Lomitapide. Curr Med Chem. 2020;27(23):3773-3783. doi: 10.2174/0929867326666190121120735.
PubMed 30663562
Study at a glance
From the registry record, last updated by the sponsor on 12 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- LOWER: Lomitapide Observational Worldwide Evaluation Registry
- ClinicalTrials.gov ID
- NCT02135705
- Acronym / sponsor ID
- LOWER / AEGR-733-025
- Conditions
- Homozygous Familial Hypercholesterolemia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 260 participants (actual)
- Lead sponsor
- Amryt PharmaIndustry (pharma, biotech, devices)
- Study start
- 18 Mar 2014 (actual)
- Primary completion
- 27 Apr 2026 (actual)
- Study completion
- 27 Apr 2026 (actual)
- First posted
- 12 May 2014 (estimated)
- 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 global product exposure registry is a multicentre, long-term, prospective, observational cohort study (exposure registry), designed to evaluate the long term safety and effectiveness of lomitapide.
Detailed description
To evaluate the occurrence of adverse events of special interest, long term effectiveness of lomitapide, and to evaluate whether prescribers of lomitapide are following screening and monitoring recommendations as specified in product labeling.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Lomitapide | – | Drug: LomitapideLomitapide as prescribed by Physician. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients treated with lomitapide who agree to participate in the study.
Key inclusion criteria (3 listed)
- Patients of all ages, including minors, who have initiated commercial treatment with lomitapide prior to or at time of registry enrolment.
- Patients who have the ability to understand the requirements of the study and provide written informed consent to comply with the study data collection procedures or paediatric patients with the consent of a parent or legal guardian.
- Patients ≥7 years of age (or above the age determined by the IRB/EC and in accordance with the local regulations and requirements) must also provide written informed assent forms.
Key exclusion criteria (2 listed)
- Patients who are receiving lomitapide in clinical trials or through compassionate use, where patients are followed under a separate protocol.
- Patients receiving an investigational agent, defined as any drug or biologic agent other than lomitapide that has not received market authorization in the country of participation, at time of lomitapide initiation and continuing to receive an investigational agent at time of registry enrolment. These patients may be enrolled if receiving lomitapide when the investigational agent is discontinued..
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| LomitapideAlso: Juxtapid, LojuxtaAs prescribed by Physician. | Drug | Lomitapide |
Primary outcome
Hepatic Abnormalities
Time frame: patients will be followed for 10 years
to evaluate the occurrence of hepatic abnormalities
8 secondary outcomes
Gastrointestinal (GI) Events
Time frame: patients will be followed for 10 years
Tumors
Time frame: patients will be followed for 10 years
Events associated with coagulopathy
Time frame: patients will be followed for 10 years
Major Adverse Cardiovascular Events (MACE) events
Time frame: patients will be followed for 10 years
Death, including cause of death
Time frame: patients will be followed for 10 years
Pregnancy
Time frame: patients will be followed for 10 years
Serum lipid levels
Time frame: patients will be followed for 10 years
Prescriber behavior
Time frame: patients will be followed for 10 years
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 12 May 2026.
- Derived from this study: PubMed 42613196Blom DJ, Larrey D, Makris L, Underberg J, O'Brien S. Long-term treatment of homozygous familial hypercholesterolemia with lomitapide: 11 years of safety and effectiveness findings from the Lomitapide Observational Worldwide Evaluation Registry. J Clin Lipidol. 2026 Jul 30:S1933-2874(26)00457-5. doi: 10.1016/j.jacl.2026.07.028. Online ahead of print.
- Derived from this study: PubMed 36520008Larrey D, D'Erasmo L, O'Brien S, Arca M; Italian Working Group on Lomitapide. Long-term hepatic safety of lomitapide in homozygous familial hypercholesterolaemia. Liver Int. 2023 Feb;43(2):413-423. doi: 10.1111/liv.15497. Epub 2022 Dec 30.
- Derived from this study: PubMed 30663562Giammanco A, Cefalu AB, Noto D, Averna MR. Therapeutic Options for Homozygous Familial Hypercholesterolemia: The Role of Lomitapide. Curr Med Chem. 2020;27(23):3773-3783. doi: 10.2174/0929867326666190121120735.
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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.
Janet Boylan study director
Amryt Pharmaceuticals
71 sites in 8 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Homozygous Familial Hypercholesterolemia, run by Amryt Pharma at 71 sites in 8 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 3 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 12 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 71 sites in United States, Italy, Canada, France, Greece and 3 more countries. 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?
Hepatic Abnormalities (time frame: patients will be followed for 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02135705, which also lists 3 linked publications.
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 12 May 2026.