The Effects of Metreleptin in Congenital Leptin Deficiency

NCT04063488 | Completed FDA Drug

• 1 other identifier: 00209730
• Study Type: observational
• Target: 2
• Locations: 1 country
• Sites: 1

Brief Summary

This study has been designed to 1) provide access to metreleptin to the only two individuals in the US known to have congenital leptin deficiency (CLD) and 2) explore a variety of unanswered questions about leptin physiology in general and metreleptin therapy in CLD specifically. The primary study endpoints include the following measures: body composition, measures of hepatic steatosis, measures of insulin sensitivity, and measures of sleep architecture. Secondary study endpoints include assessment of clock gene expression, body temperature, thyroid function, gonadal function, cognitive function, eating behavior, physical activity, mood, quality of life, and body image.

Conditions

Congenital Leptin Deficiency (Disorder)

Outcome Measures

Primary Outcomes (4)

• change in hepatic steatosis

  ultrasound elastography with dispersion imaging

  repeated measures at baseline, 1 week, 1 month, 3 months, 6 months, 12 months, 18 months, 24 months

• change in insulin sensitivity

  HOMA (fasting labs)

  repeated measures at baseline, 1 week, 3 months

• change in sleep architecture

  polysomnography

  repeated measures at baseline, 3 months, 6 months, 12 months

• change in body composition

  full body DXA

  repeatured measures at baseline, 3 months, 6 months, 12 months, 18 months, 24 months

Interventions

Metreleptin DRUG

This is an observational study in which the subjects will serve as their own controls. Study testing will be conducted at baseline (pre-treatment) and for 2 years, post-treatment with metreleptin.

Also known as: Myalept

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This study will enroll two young adults who have been recently diagnosed with congenital leptin deficiency (homozygous for the pathogenic variant c.398delG in exon 3 of the leptin gene). They have not been previously treated with metreleptin.

You may qualify if:

• Diagnosis of congenital leptin deficiency
• Age 18 years or older
• Must agree to use contraception for the duration of treatment with metreleptin and for 6 months post-treatment completion.

You may not qualify if:

• Presence of a clinically significant medical condition that could significantly affect the risk/benefit ratio for metreleptin treatment, as judged by the PI
• Known allergies to E. coli-derived proteins or hypersensitivity to any component of metreleptin treatment

Sponsors & Collaborators

• Northwestern University: lead

Study Sites (1)

Northwestern University Feinberg School of Medicine

Chicago, Illinois, 60611, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

serum

MeSH Terms

Interventions

metreleptin

Study Officials

• Lisa Neff, MD

  Dr.

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor, Endocrinology, Metabolism and Molecular Medicine

Study Record Dates

• First Submitted: July 12, 2019
• First Posted: August 21, 2019
• Study Start: June 20, 2019
• Primary Completion: August 13, 2021
• Study Completion: August 13, 2021
• Last Updated: December 30, 2021

Record last verified: 2021-12

Locations

US (1)