This study is currently recruiting participants.
Number
20-DK-0168
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
No
Population Exclusion(s)
None
Keywords
Lipodystrophy; Insulin Resistance; Natural History
Recruitment Keyword(s)
Condition(s)
Diabetes; Insulin Resistance; Lipodystrophy
Investigational Drug(s)
Investigational Device(s)
Intervention(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.
Objective:
To find people who have lipodystrophies and their family members, to collect and store data about their health and medical care.
Eligibility:
People ages 3 and older with lipodystrophy.
Design:
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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INCLUSION CRITERIA: 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 OR -Imaging modality showing symmetric, selective absence of fat from the entire body or regionally -OR -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 OR -Pancreatitis due to hypertriglyceridemia c. Severe insulin resistance -Fasting insulin greater than or equal to 30 mIU/L OR -Insulin use of greater than or equal to 2 units/kg/day OR -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. EXCLUSION CRITERIA: 1. History of HIV infection 2. Drug-induced localized lipodystrophies
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
OR
-Imaging modality showing symmetric, selective absence of fat from the entire body or regionally
-OR
-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.
EXCLUSION CRITERIA:
1. History of HIV infection
2. Drug-induced localized lipodystrophies
Principal Investigator
Referral Contact
For more information: