Clinical trial NCT02577952: Lipodystrophy Connect Patient Registry
Official title: Lipodystrophy Connect Patient Registry
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Lipodystrophy
Keywords: lipodystrophy
lipodystrophy, congenital generalized
Berardinelli-Seip Congenital Lipodystrophy
Congenital generalized lipodystrophy
generalized lipodystrophy
lipodystrophy, familial partial
partial lipodystrophy
lipodystrophy, partial, acquired
acquired lipodystrophy
Lead sponsor: PatientCrossroads
Sponsor class: INDUSTRY
First posted: 2015-10-16
Enrollment: 257
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: People with known or suspected lipodystrophy and their family members.

Brief summary: Lipodystrophy Connect is an online survey tool designed to collect demographic data and health information from individuals with Lipodystrophy.

Detailed description: Lipodystrophy is a heterogeneous group of rare and inherited syndromes characterized by the complete or partial loss or absence of subcutaneous adipose tissue. People living with lipodystrophy lack the fat tissue required for normal metabolic function. To enhance knowledge of the underlying biology of these conditions and to institute effective clinical treatments, the Lipodystrophy community has developed a mechanism for individuals with any of the Lipodystrophy conditions to enroll in a Lipodystrophy registry called Lipodystrophy Connect. The objective of such a registry is to create a platform that connects all of the Lipodystrophy community, including persons with Lipodystrophy, family members, healthcare providers, researchers, drug companies, advocacy groups, federal research organizations, and regulators. A patient registry will provide the foundation for a resource to meet the current and future needs of the Lipodystrophy community as well as accelerate the rate of research and development of therapies that improve the quality of life of those with Lipodystrophy. Lipodystrophy Connect is an online survey tool that collects basic demographic information and health information from people with any rare form of Lipodystrophy.

Eligibility criteria: Inclusion Criteria:

* Adults, \> 18 years of age, with a diagnosis or suspected diagnosis of lipodystrophy, who are willing and able to provide informed consent, or for whom a legally authorized representative gives permission on behalf of the person to participate.
* Minors (less than 18 years of age) with a diagnosis of lipodystrophy with a parent(s) or legally authorized representative who provides informed consent to participate and enter registry information on behalf of the minor. Note: Minors who are 7-17 years of age will be asked to provide assent to participate.
* Adults \> 18 years of age, without lipodystrophy, who are willing and able to provide informed consent and are family members of patients diagnosed with familial partial lipodystrophy (FPL) or congenital generalized lipodystrophy (CGL) and want to provide information about themselves.

Exclusion Criteria:

* A person who does not have a suspected or confirmed diagnosis of Lipodystrophy.
* A person who has a known diagnosis of HIV-associated Lipodystrophy.

Primary outcomes:
measure: Descriptive epidemiology of congenital and acquired lipodystrophy.
timeFrame: Participants are requested to update their questionnaires every 12 months for 5 years.
Secondary outcomes:
measure: Data on disease subtype
timeFrame: Participants are requested to update their questionnaires every 12 months for 5 years.
measure: Change in congenital and acquired lipodystrophy clinical features
timeFrame: Participants are requested to update their questionnaires every 12 months for 5 years.
measure: Change in patient self-report Quality of Life
timeFrame: Participants are requested to update their questionnaires every 12 months for 5 years.
measure: Data on family and reproductive history
timeFrame: Participants are requested to update their questionnaires every 12 months for 5 years.
Other outcomes:
Locations:
city: San Francisco
country: United States
facility: PatientCrossroads
state: California
Study officials:
affiliation: PatientCrossroads
name: Vanessa Rangel Miller, M.S., M.B.A
role: PRINCIPAL_INVESTIGATOR
References: