<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT03262610</url>
  </required_header>
  <id_info>
    <org_study_id>RM-493-019</org_study_id>
    <nct_id>NCT03262610</nct_id>
  </id_info>
  <brief_title>Setmelanotide in a Single Patient With Partial Lipodystrophy</brief_title>
  <official_title>Expanded-access for the Use of Setmelanotide in a Single Patient With Partial Lipodystrophy (LD) Associated With Leptin Deficiency and Multiple Autoimmune Diseases</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Rhythm Pharmaceuticals, Inc.</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Rhythm Pharmaceuticals, Inc.</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>Yes</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      The objective of this single patient study is to assess the safety and efficacy of&#xD;
      setmelanotide as a treatment of severe metabolic abnormalities resulting from LD, especially&#xD;
      refractory hypertriglyceridemia leading to recurrent bouts of pancreatitis.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      This is a single-patient study to assess the safety and efficacy of setmelanotide in a unique&#xD;
      patient with partial LD and severe metabolic abnormalities, most notably refractory&#xD;
      hypertriglyceridemia leading to recurrent pancreatitis despite ongoing plasmapheresis&#xD;
      treatment.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">August 15, 2017</start_date>
  <completion_date type="Actual">January 31, 2018</completion_date>
  <primary_completion_date type="Actual">January 31, 2018</primary_completion_date>
  <phase>Phase 2</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>N/A</allocation>
    <intervention_model>Single Group Assignment</intervention_model>
    <primary_purpose>Treatment</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>Fasting Triglycerides (TG) levels</measure>
    <time_frame>12 to 20 weeks</time_frame>
    <description>The mean change from baseline in fasting triglycerides after setmelanotide treatment.</description>
  </primary_outcome>
  <number_of_arms>1</number_of_arms>
  <enrollment type="Actual">1</enrollment>
  <condition>Hypertriglyceridemia</condition>
  <condition>Obesity</condition>
  <arm_group>
    <arm_group_label>Setmelanotide daily subcutaneous injection</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
    <description>Up to 18 weeks setmelanotide treatment.</description>
  </arm_group>
  <intervention>
    <intervention_type>Drug</intervention_type>
    <intervention_name>Setmelanotide</intervention_name>
    <description>daily subcutaneous injection</description>
    <arm_group_label>Setmelanotide daily subcutaneous injection</arm_group_label>
    <other_name>RM-493</other_name>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          1. Signed written informed consent&#xD;
&#xD;
          2. Ability to comply with visits and procedures required by program.&#xD;
&#xD;
          3. Has physician-confirmed partial lipodystrophy and the following characteristics:&#xD;
&#xD;
               -  Has atypical lipodystrophy.&#xD;
&#xD;
               -  Has presence of neutralizing antibody to metreleptin&#xD;
&#xD;
               -  Patient has life threatening hypertriglyceridemia and has had &gt;8 episodes of&#xD;
                  pancreatitis, requiring weekly plasmapheresis&#xD;
&#xD;
               -  Has Type 1 diabetes mellitus with HbA1c &gt; 10%.&#xD;
&#xD;
          4. Female, under the age of 18 years&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          1. Diagnosis of schizophrenia, bipolar disorder, personality disorder or other Diagnostic&#xD;
             and Statistical Manual of Mental Disorders (DSM-III) disorders that the investigator&#xD;
             believes will interfere significantly with study compliance. Neurocognitive disorders&#xD;
             affecting ability to consent will not be disqualifying as long as an appropriate&#xD;
             guardian able to give consent has been appointed.&#xD;
&#xD;
          2. History or close family history (parents or siblings) of skin cancer or melanoma, or&#xD;
             patient history of ocular-cutaneous albinism.&#xD;
&#xD;
          3. Significant dermatologic findings relating to melanoma or pre-melanoma skin lesions,&#xD;
             determined as part of a screening comprehensive skin evaluation performed by a&#xD;
             qualified dermatologist.&#xD;
&#xD;
          4. Significant hypersensitivity to study drug.&#xD;
&#xD;
          5. Inability to comply with QD injection regimen.&#xD;
      </textblock>
    </criteria>
    <gender>Female</gender>
    <gender_based>Yes</gender_based>
    <gender_description>This is a single patient study</gender_description>
    <minimum_age>15 Years</minimum_age>
    <maximum_age>15 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Linda Shapiro, M.D., Ph.D.</last_name>
    <role>Study Chair</role>
    <affiliation>Chief Medical Officer, Rhythm Pharmaceuticals, Inc</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>University of Michigan</name>
      <address>
        <city>Ann Arbor</city>
        <state>Michigan</state>
        <zip>48105</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>December 2021</verification_date>
  <study_first_submitted>August 22, 2017</study_first_submitted>
  <study_first_submitted_qc>August 22, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">August 25, 2017</study_first_posted>
  <last_update_submitted>December 13, 2021</last_update_submitted>
  <last_update_submitted_qc>December 13, 2021</last_update_submitted_qc>
  <last_update_posted type="Actual">January 4, 2022</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Lipodystrophy</mesh_term>
    <mesh_term>Hypertriglyceridemia</mesh_term>
  </condition_browse>
  <pending_results>
    <submitted>April 25, 2023</submitted>
    <returned>May 18, 2023</returned>
    <submitted>May 19, 2023</submitted>
    <returned>May 22, 2023</returned>
  </pending_results>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT03262610
org study id: RM-493-019
nct id: NCT03262610
lead sponsor: 
has dmc: No
is fda regulated drug: Yes
is fda regulated device: No
The objective of this single patient study is to assess the safety and efficacy of
      setmelanotide as a treatment of severe metabolic abnormalities resulting from LD, especially
      refractory hypertriglyceridemia leading to recurrent bouts of pancreatitis.
This is a single-patient study to assess the safety and efficacy of setmelanotide in a unique
      patient with partial LD and severe metabolic abnormalities, most notably refractory
      hypertriglyceridemia leading to recurrent pancreatitis despite ongoing plasmapheresis
      treatment.
allocation: N/A
intervention model: Single Group Assignment
primary purpose: Treatment
masking: None (Open Label)
measure: Fasting Triglycerides (TG) levels
time frame: 12 to 20 weeks
description: The mean change from baseline in fasting triglycerides after setmelanotide treatment.
arm group label: Setmelanotide daily subcutaneous injection
arm group type: Experimental
description: Up to 18 weeks setmelanotide treatment.
intervention type: Drug
intervention name: Setmelanotide
description: daily subcutaneous injection
arm group label: Setmelanotide daily subcutaneous injection
other name: RM-493
criteria: 
gender: Female
gender based: Yes
gender description: This is a single patient study
minimum age: 15 Years
maximum age: 15 Years
healthy volunteers: No
last name: Linda Shapiro, M.D., Ph.D.
role: Study Chair
affiliation: Chief Medical Officer, Rhythm Pharmaceuticals, Inc
facility: 
country: United States
responsible party type: Sponsor
mesh term: Lipodystrophy
mesh term: Hypertriglyceridemia
submitted: April 25, 2023
returned: May 18, 2023
submitted: May 19, 2023
returned: May 22, 2023