Clinical trial NCT03048617: An Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)
Official title: A Prospective Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Primary Mitochondrial Disease
Keywords: Primary Mitochondrial Disease
Stealth
Myopathy
exercise intolerance
muscle pain
Mitochondrial Myopathy
Primary Mitochondrial Myopathy
Lead sponsor: Stealth BioTherapeutics Inc.
Sponsor class: INDUSTRY
First posted: 2017-02-09
Enrollment: 215
Sex: ALL
Minimum age (years): 16
Maximum age (years): 80
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with clinical presentation of PMD with either signs or symptoms suggestive of myopathy

Brief summary: This is an observational study of patients with Primary Mitochondrial Disease with either signs or symptoms suggestive of myopathy. The Investigator will identify potential patients through existing medical records and one on-site visit.

Detailed description: An observational study of patients with presumed Primary Mitochondrial Disease designed to better characterize and correlate symptoms and signs of myopathy and genetic test results and the use of commonly prescribed treatments. The study will help define and identify a subject population for a future trial of an investigational product to treat primary mitochondrial disease associated with signs and symptoms of myopathy.

Eligibility criteria: Inclusion Criteria:

* Willing and able to provide a signed informed consent form (ICF) prior to participation in any-trial related procedures
* Patient has clinical presentation of PMD with either signs or symptoms suggestive of myopathy
* Patient is ambulatory and able to attempt 6MWT

Exclusion Criteria:

* Patient has symptoms of PMD due to secondary mitochondrial dysfunction
* Patient has had prior exposure to elamipretide
* Patient does not have the cognitive capacity to understand and complete all study assessments
* Patient has a medical history of severe renal impairment
* History of active alcoholism or drug addiction during the year before enrollment

Primary outcomes:
measure: Assess the relationship of genotype to phenotype in patients with Primary Mitochondrial Disease
timeFrame: 1 year
measure: Compare local and regional differences in standard of care and management of patients with Primary Mitochondrial Disease
timeFrame: 1 year
Secondary outcomes:
measure: Compare local and regional differences in genetic testing methodologies for Primary Mitochondrial Disease
timeFrame: 1 year
Other outcomes:
Locations:
city: La Jolla
country: United States
facility: University of California San Diego
state: California
city: Palo Alto
country: United States
facility: Stanford Universtity
state: California
city: Aurora
country: United States
facility: Children's Hospital Colorado
state: Colorado
city: Boston
country: United States
facility: Massachusetts General Hospital
state: Massachusetts
city: New York
country: United States
facility: Columbia University Medical Center
state: New York
city: Akron
country: United States
facility: Akron Children's Hospital
state: Ohio
city: Cleveland
country: United States
facility: Cleveland Clinic
state: Ohio
city: Philadelphia
country: United States
facility: The Children's Hospital of Philadelphia
state: Pennsylvania
city: Pittsburgh
country: United States
facility: Children's Hospital of Pittsburgh of UPMC
state: Pennsylvania
city: Houston
country: United States
facility: Baylor College of Medicine
state: Texas
city: Houston
country: United States
facility: The University of Texas Health Science Center
state: Texas
city: Salt Lake City
country: United States
facility: University of Utah Hospital
state: Utah
city: Seattle
country: United States
facility: Seattle Children's Hospital
state: Washington
city: Caulfield South
country: Australia
facility: Calvary Health Care Bethlehem
state: Victoria
city: St Leonards
country: Australia
facility: Royal North Shore Hospital
city: Calgary
country: Canada
facility: University of Calgary Metabolic Disease Clinica
state: Alberta
city: Hamilton
country: Canada
facility: McMaster University Medical Center
state: Ontario
city: Vancouver
country: Canada
facility: Adult Metabolic Diseases Clinic
city: Copenhagen
country: Denmark
facility: University of Copenhagen
city: Munich
country: Germany
facility: Klinikim der Universitat Muchen, Friedrich-Baur Institute
state: Bavaria
city: Bonn
country: Germany
facility: University Hospital of Bonn
city: Budapest
country: Hungary
facility: Institute of Genomic Medicine and Rare Disorders
city: Bologna
country: Italy
facility: IRCCS Institute of Neurological Sciences of Bolgna, Bellaria Hospital
city: Brescia
country: Italy
facility: ASST Spedali Civili di Brescia
city: Messina
country: Italy
facility: Azienda Ospedaliero Universitaria Policlinico G. Martino
city: Milano
country: Italy
facility: Istituto Nazionale Neurologico Carlo Besta
city: Roma
country: Italy
facility: Istituto di Neurologia, Fondazione Policlinico Universitario A. Gemelli
city: Roma
country: Italy
facility: Dipartimento Ambientale di Neuroscienze
city: Roma
country: Italy
facility: Ospedale Pediatrico Bambin Gesu
city: Madrid
country: Spain
facility: Hospital Universitario 12 de Octubre
city: Valencia
country: Spain
facility: Neurology Department Hospital Universitari i Politecnic La Fe
city: London
country: United Kingdom
facility: MRC Centre for Neuromuscular Diseases
city: Newcastle upon Tyne
country: United Kingdom
facility: Royal Victoria Infirmary
Study officials:
References: