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OpenTrials
Completed

NCT Number: NCT02577952

Lipodystrophy Connect Patient Registry

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

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Key information

Conditions

Lipodystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Laminopathies Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipodystrophy, Congenital Generalized Lipodystrophy, Familial Partial Lipodystrophy, Partial, Acquired Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Skin Diseases Skin Diseases, Metabolic Skin and Connective Tissue Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

PatientCrossroads

San Francisco, California, 94103, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Descriptive epidemiology of congenital and acquired lipodystrophy.

    Time frame: Participants are requested to update their questionnaires every 12 months for 5 years.

    Assessed from multiple questions regarding the natural history of patients with congenital or acquired lipodystrophy, with an emphasis on co-morbidities, history of medical evaluation or admission, and use of medications/alternative therapies.

Secondary outcomes

  1. Data on disease subtype

    Time frame: Participants are requested to update their questionnaires every 12 months for 5 years.

    Multiple questions about the patient's diagnostic process including reported diagnosis and subtype, time to diagnosis, method of diagnosis, age at diagnosis, presenting symptoms and specialty of diagnosing clinician.

  2. Change in congenital and acquired lipodystrophy clinical features

    Time frame: Participants are requested to update their questionnaires every 12 months for 5 years.

    Assessed from multiple questions regarding the common physical features hallmark to congenital and acquired lipodystrophy.

  3. Change in patient self-report Quality of Life

    Time frame: Participants are requested to update their questionnaires every 12 months for 5 years.

    Assessed from self-report quality-of-life (QoL) questions about the patient's overall health, everyday living, recent impact, personal impact, available resources, diet and lifestyle history.

  4. Data on family and reproductive history

    Time frame: Participants are requested to update their questionnaires every 12 months for 5 years.

    Multiple questions regarding whether biological family members have been diagnosed with lipodystrophy or report lipodystrophy symptoms, and personal reproductive history.

Sponsors and collaborators

Lead sponsor

PatientCrossroads

Industry

Registry information

Important dates

Study start
2014
Primary completion
2018
Study completion
2018
First posted
Oct 16, 2015
Registry last updated
Apr 22, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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