Lipodystrophy (Genetic or Acquired, Non HIV)NCT03087253
The LD Lync Study - Natural History Study of Lipodystrophy Syndromes
An observational study of Lipodystrophy (Genetic or Acquired, Non HIV), run by University of Michigan at 4 sites in 3 countries.
Trial summary
Genetic lipodystrophy syndromes are extremely rare, orphan diseases with overall estimated prevalence of less than 2,000 in the United States. These rare disorders characterized by selective loss of adipose tissue and predisposition to insulin resistance and its metabolic complications diabetes, dyslipidemia and… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Lipodystrophy (Genetic or Acquired, Non HIV)
- How many people
- 500 participants
- Where
- 4 sitesin 3 countries
- Study dates
- 27 Feb 2018to Mar 2034
- How long will I take part?
- 16 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 with a clinical diagnosis of genetic or acquired lipodystrophy
Who may be able to join
- Clinical diagnosis of genetic or acquired lipodystrophy Supportive data: 1) Presence of biallelic known disease-causing variants in the genes for autosomal recessive lipodystrophy syndromes; 2) Presence of a known (or de novo loss of function) disease-causing variant in the genes for autosomal dominant lipodystrophy syndromes; or 3) Clinical supportive data based on morphological criteria together with metabolic abnormalities.
Who cannot join
- HIV-infected patients with lipodystrophy
- Drug-induced lipodystrophy
Trial locations and contacts
4 sites in 3 countries. Contact the study team or a site near you to ask about taking part.
4 sites in 3 countries
United States2 sites, 2 recruiting
- Recruiting
University of Michigan
Ann Arbor, Michigan, 48105
Adam H Neidert, MS, 734-615-0539, aneidert@med.umich.edu
Elif A Oral, MD, 734-615-7271, eliforal@med.umich.edu
- Recruiting
National Institutes of Health
Bethesda, Maryland, 20892
Rebecca Brown, MD, 301-594-0609, brownrebecca@niddk.nih.gov
Michelle Ashmus, michelle.ashmus@nih.gov
Brazil1 site, 1 recruiting
- Recruiting
Federal University of Ceará
Fortaleza, Ceará, 60.430-370
Renan Magalhães Montenegro Junior, MD, +55 85 9994-0909, renanmmjr@gmail.com
Natalia Prodo Boris, MD, +55 85 8999-9990, natpboris@gmail.com
Turkey (Türkiye)1 site, 1 recruiting
- Recruiting
Izmir Biomedicine and Genome Center
Izmir, 35380
Baris Akinci, MD, 90 552 6001789, barisakincimd@gmail.com
Ilgin Yildirim Simsir, MD, ilgin.yildirim.simsir@ege.edu.tr
About this study
Official title: Prospective Multicenter Natural History Study of Lipodystrophy Syndromes to Determine Prevalence, Incidence and Predictors of Diabetes and Severe Hypertriglyceridemia, and Their Complications
Genetic lipodystrophy syndromes are extremely rare, orphan diseases with overall estimated prevalence of less than 2,000 in the United States. These rare disorders characterized by selective loss of adipose tissue and predisposition to insulin resistance and its metabolic complications diabetes, dyslipidemia and hepatic steatosis. Due to these metabolic problems, atherosclerotic vascular disease, recurrent episodes of acute pancreatitis, cirrhosis and other morbidities complicate the lives of these patients.
In the last few years, several genes for CGL (AGPAT2, BSCL2, CAV1 and PTRF); FPL (LMNA, PPARG, AKT2, CIDEC, LIPE, PLIN1, PCYT1A and ADRA2A); MAD (LMNA and ZMPSTE24); APS (LMNA); autoinflammatory (PSMB8); NPS (FBN1, CAV1); SHORT syndrome (PIK3R1); and MDP syndrome (POLD1) have been identified. However, there is paucity of information about the natural history of these rare syndromes, especially genotype-specific causes of morbidity and mortality.
To overcome the problems outlined above, this multicenter, collaborative, prospective, observational natural history cohort study will be conducted on approximately 500 patients with genetic or acquired lipodystrophy syndromes. Patients will be assessed on a yearly basis for approximately 5 to 7 years to collect robust clinical, metabolic, morbidity and mortality data. Medical history and patient questionnaires will be completed on a yearly basis by patients registered in the study. Clinical data such as vitals, laboratory results and anthropometric measurements will also be collected from patients' medical records if available.
- Medical subject headings
- Lipodystrophy
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of diabetes mellitus
Number of subjects with diabetes mellitus or who develop diabetes mellitus
Measured: 4 years
Secondary outcomes (2)
Prevalence of severe hypertriglyceridemia
Number of subjects with severe hypertriglyceridemia (greater than 500 md/dL) or who develop severe hypertriglyceridemia
Measured: 4 years
Incidence of severe morbidities and causes of mortality
Incidence of severe morbidities (acute pancreatitis, congestive heart failure, cirrhosis, liver failure) and causes of mortality in subjects
Measured: 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Mar 2017
- Study start27 Feb 2018
- Primary completionMar 2034 (estimated)
- Study completionMar 2034 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lipodystrophy (Genetic or Acquired, Non HIV)Studies of the same condition, open and under way.
- More trials run by University of MichiganThe sponsor's other registered studies.
- 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
- 500 participants (estimated)
- Target duration
- 16 Years
Sponsor and investigators
- Lead sponsor
- University of Michigan
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Elif Oral, University of Michigan
- Investigators
- Elif A Oral, MD, Principal investigator, Professor of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03087253
- Sponsor's protocol ID
- HUM00127427
- Status last verified
- Mar 2026
- First submitted
- 16 Mar 2017
- Last updated
- 19 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Multicenter Natural History Study of Lipodystrophy Syndromes to Determine Prevalence, Incidence and Predictors of Diabetes and Severe Hypertriglyceridemia, and Their Complications
- ClinicalTrials.gov ID
- NCT03087253
- Acronym / sponsor ID
- HUM00127427
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- University of MichiganUniversity, hospital or other
- Study start
- 27 Feb 2018 (actual)
- Primary completion
- Mar 2034 (estimated)
- Study completion
- Mar 2034 (estimated)
- First posted
- 22 Mar 2017 (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.
Genetic lipodystrophy syndromes are extremely rare, orphan diseases with overall estimated prevalence of less than 2,000 in the United States. These rare disorders characterized by selective loss of adipose tissue and predisposition to insulin resistance and its metabolic complications diabetes, dyslipidemia and hepatic steatosis. Due to these metabolic problems, atherosclerotic vascular disease, recurrent episodes of acute pancreatitis, cirrhosis and other morbidities complicate the lives of these patients.
In the last few years, several genes for CGL (AGPAT2, BSCL2, CAV1 and PTRF); FPL (LMNA, PPARG, AKT2, CIDEC, LIPE, PLIN1, PCYT1A and ADRA2A); MAD (LMNA and ZMPSTE24); APS (LMNA); autoinflammatory (PSMB8); NPS (FBN1, CAV1); SHORT syndrome (PIK3R1); and MDP syndrome (POLD1) have been identified. However, there is paucity of information about the natural history of these rare syndromes, especially genotype-specific causes of morbidity and mortality.
To overcome the problems outlined above, this multicenter, collaborative, prospective, observational natural history cohort study will be conducted on approximately 500 patients with genetic or acquired lipodystrophy syndromes. Patients will be assessed on a yearly basis for approximately 5 to 7 years to collect robust clinical, metabolic, morbidity and mortality data. Medical history and patient questionnaires will be completed on a yearly basis by patients registered in the study. Clinical data such as vitals, laboratory results and anthropometric measurements will also be collected from patients' medical records if available.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 16 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with a clinical diagnosis of genetic or acquired lipodystrophy
Key inclusion criteria (1 listed)
- Clinical diagnosis of genetic or acquired lipodystrophy Supportive data: 1) Presence of biallelic known disease-causing variants in the genes for autosomal recessive lipodystrophy syndromes; 2) Presence of a known (or de novo loss of function) disease-causing variant in the genes for autosomal dominant lipodystrophy syndromes; or 3) Clinical supportive data based on morphological criteria together with metabolic abnormalities.
Key exclusion criteria (2 listed)
- HIV-infected patients with lipodystrophy
- Drug-induced lipodystrophy
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
Prevalence of diabetes mellitus
Time frame: 4 years
Number of subjects with diabetes mellitus or who develop diabetes mellitus
2 secondary outcomes
Prevalence of severe hypertriglyceridemia
Time frame: 4 years
Incidence of severe morbidities and causes of mortality
Time frame: 4 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Mar 2026.
- Individual participant dataSharing planned: No
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.
Elif A Oral, MD principal investigator
Professor of Medicine
4 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lipodystrophy (Genetic or Acquired, Non HIV), run by University of Michigan at 4 sites in 3 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 1 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: looking for participants now, as of the sponsor's last update on 19 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States, Brazil, 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Adam Neidert, M.S. (734-615-0539, aneidert@med.umich.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of diabetes mellitus (time frame: 4 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 19 Mar 2026.