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Protocol Details

LYNC-LD Prospective Multicenter Natural History Study of Lipodystrophy Syndromes to Determine Prevalence, Incidence and Predictors of Diabetes and Severe Hypertriglyceridemia, and their Complications.

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 3 Years
Max Age: 120 Years

Referral Letter Required


Population Exclusion(s)



Insulin Resistance;
Natural History

Recruitment Keyword(s)



Insulin Resistance;

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute of Diabetes and Digestive and Kidney Diseases


Lipodystrophy syndromes are very rare diseases. They cause loss of body fat and increased risk of insulin resistance. Researchers want to create a registry. It will store data about the diseases in a single place. This will make it easier for researchers to share and study data.


To find people who have lipodystrophies and their family members, to collect and store data about their health and medical care.


People ages 3 and older with lipodystrophy.


Participants will be screened with a medical record review. Data may be collected from past physical exams, blood and urine tests, gene tests, and other tests. They will complete surveys. The surveys will take 30-60 minutes to complete. They can complete the surveys during the visit or at home. The surveys will ask about:

- Demographics

- Family medical history

- Medicine and medical history

- Quality of life

- Chronic pain

- Emotional health and anxiety

- Hunger

Participants will give follow-up data every year for the next 4 years. They will complete surveys about demographics and new medical history. They will give data about the family history of any family member who is diagnosed with lipodystrophy during the study.

Participants will complete a 1-day food diary. They will bring it to follow-up visits.

Participants medical records will be reviewed once a year. Data from exams, blood and urine tests, and other tests will be collected.

Participation will last for 5 study visits over 4 years. If a participant cannot return for visits, their doctor can submit the data to NIH.

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1. Age greater than or equal to 3 years

2. Clinical diagnosis of lipodystrophy syndromes, defined as the occurrence of at least one of the following three criteria below:

a. Presence of biallelic known disease-causing variants in the genes for autosomal recessive lipodystrophy syndromes; or

b. Presence of a known (or de novo loss of function) disease-causing variant in the genes for autosomal dominant lipodystrophy syndromes; or

c. Fat loss (as defined below) together with one additional criteria.

Fat loss is objectively quantified by meeting at least one criterion described in (a) below and at least one of the metabolic/immunological conditions described in (b) to (f) below:

a. Fat loss is shown by:

-Midthigh skin fold thickness

--Less than or equal to 10 mm in men

--Less than or equal to 22 mm in women


-Imaging modality showing symmetric, selective absence of fat from the entire body or regionally


-Presence of multifocal areas of fat loss and/or inflamed fat (panniculitis) at multiple areas in the body

b. Hypertriglyceridemia

-Triglycerides greater than or equal to 200 mg/dL


-Pancreatitis due to hypertriglyceridemia

c. Severe insulin resistance

-Fasting insulin greater than or equal to 30 mIU/L


-Insulin use of greater than or equal to 2 units/kg/day


-Presence of hyperandrogenism and/or PCO-S in women

d. Presence of diabetes mellitus (ADA or WHO criteria)

e. Nonalcoholic fatty liver disease (by clinical criteria; imaging or biopsy)

f. Presence of systemic immune dysregulation and/or hypocomplementemia by genetic and/or laboratory and/or in vitro testing

3. Written informed consent or assent (if age-appropriate). Written consent must be provided by a legally authorized representative if the patient is a cognitively impaired adult and unable to provide written consent.


1. History of HIV infection

2. Drug-induced localized lipodystrophies

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Garg A. Acquired and inherited lipodystrophies. N Engl J Med. 2004 Mar 18;350(12):1220-34. doi: 10.1056/NEJMra025261. PMID: 15028826.

Ajluni N, Meral R, Neidert AH, Brady GF, Buras E, McKenna B, DiPaola F, Chenevert TL, Horowitz JF, Buggs-Saxton C, Rupani AR, Thomas PE, Tayeh MK, Innis JW, Omary MB, Conjeevaram H, Oral EA. Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort. Clin Endocrinol (Oxf). 2017 May;86(5):698-707. doi: 10.1111/cen.13311. Epub 2017 Mar 27. PMID: 28199729; PMCID: PMC5395301.

Garg A. Clinical review#: Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab. 2011 Nov;96(11):3313-25. doi: 10.1210/jc.2011-1159. Epub 2011 Aug 24. PMID: 21865368.

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Principal Investigator

Referral Contact

For more information:

Rebecca J. Brown, M.D.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIHBC 10 - CRC BG RM 6-5942
(301) 594-0609

Megan S. Startzell, R.N.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Institutes of Health
Building 10
Room 5-5750
10 Center Drive
Bethesda, Maryland 20892
(301) 402-6371

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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