Clinical trial NCT01694940: North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Official title: North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Mitochondrial Disorders
Mitochondrial Genetic Disorders
Mitochondrial Diseases
Disorder of Mitochondrial Respiratory Chain Complexes
Deletion and Duplication of Mitochondrial DNA
Keywords: mitochondrial disorders
Mito Disease
Mitochondria
Mitochondrial disease
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) Syndrome
Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
Leber Hereditary Optic Neuropathy (LHON)
Leigh Syndrome
Neuropathy, ataxia, and retinitis pigmentosa (NARP)
Kearns Sayre syndrome
Alpers Huttenlocher
Pearson
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE)
Barth Syndrome
Coenzyme Q (CoQ) Deficiency
Chronic progressive external ophthalmoplegia (CPEO)
DAD
Diabetes and Deafness
Encephalopathy
Encephalomyopathy
Familial Bilateral Striatal Necrosis (FBSN)
Hepatocerebral Disease
Leukoencephalopathy
Maternally Inherited Leigh Syndrome (MILS)
Complex I Deficiency
Complex II Deficiency
Complex III Deficiency
Complex IV Deficiency
Complex V Deficiency
mitochondrial DNA depletion syndrome
mtDNA depletion syndrome
Lead sponsor: Columbia University
Sponsor class: OTHER
Collaborators: name: National Institute of Neurological Disorders and Stroke (NINDS)
First posted: 2012-09-27
Enrollment: 1000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with known mitochondrial disorders. People at risk of carrying a mitochondrial DNA mutation Patients with abnormal mitochondrial function

Brief summary: The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

Detailed description: Mitochondrial diseases comprise a group of relatively rare (\~1 in 5000 adults) but very serious genetic disorders. Mitochondria are often called the "powerhouses of the cell" because they provide the energy our cells need to live. Mitochondria have their own DNA (mtDNA), but they also rely on DNA from the nucleus (nDNA). Mitochondrial diseases are caused by mutations in either mitochondrial or nuclear DNA that result in poorly functioning mitochondria. This can cause a variety of symptoms including muscle weakness, seizures, mental retardation, dementia, hearing loss, blindness, strokes, diabetes, and premature death. Most mitochondrial diseases are progressive, and we are unable to cure most of these diseases with currently available treatments.

Research into mitochondrial diseases has been hampered by the low frequency of these disorders and by under-diagnosis by clinicians. This has hindered patient recruitment for research studies and clinical trials. The North American Mitochondrial Disease Consortium (NAMDC) was established to help surmount these issues. Led jointly by Drs. Michio Hirano and Salvatore DiMauro, NAMDC is a consortium of several clinicians and researchers with an interest in mitochondrial disease research in the United States and Canada.

By creating a mechanism for the sharing of patient samples with researchers, data and patient contact information, NAMDC will make it easier to conduct clinical and basic laboratory research.

Patient information will be shared through the use of the "Patient Data Registry," a specially-designed database, and patient tissue samples will be shared through the use of the "Patient Sample Biorepository", a storage facility in which patient-derived biological samples will be maintained. The Registry and the Biorepository will hopefully accelerate progress in the understanding and treatment of mitochondrial disease.

Patients can enroll at any of the NAMDC member sites. A web-based remote enrollment is also available at www.namdc.org for eligible patients who reside far from any of the NAMDC participating sites.

Eligibility criteria: Inclusion Criteria:

* Patients diagnosed with or suspected to have a mitochondrial disorder
* Adult carriers of known mitochondrial DNA mutations
* Patients with laboratory analysis indicative of a mitochondrial disorder.
* Medical information and tissue samples are also accepted from deceased individuals who fulfill the above criteria.

Exclusion Criteria:

* Patients not suspected of having a mitochondrial disorder
* Patients not suspected of carrying a mitochondrial DNA or nuclear DNA mutation that affects mitochondrial function.

Primary outcomes:
measure: There is no primary outcome measure for this study
timeFrame: end of study
Secondary outcomes:
Other outcomes:
Locations:
city: San Diego
country: United States
facility: University of California San Diego
state: California
city: Stanford
country: United States
facility: Lucile Packard Children's Hospital
state: California
city: Aurora
country: United States
facility: Children's Hospital of Colorado
state: Colorado
city: Washington
country: United States
facility: Children's National Medical Center
state: District of Columbia
city: Gainesville
country: United States
facility: University of Florida
state: Florida
city: Boston
country: United States
facility: Massachusetts General Hospital
state: Massachusetts
city: Rochester
country: United States
facility: Mayo Clinic
state: Minnesota
city: New York
country: United States
facility: Columbia University Medical Center
state: New York
city: New York
country: United States
facility: Virtual Site (Remote enrollment)
state: New York
city: Akron
country: United States
facility: Akron Children's Hospital
state: Ohio
city: Cleveland
country: United States
facility: Case Western Reserve University
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
state: Pennsylvania
city: Houston
country: United States
facility: Baylor College of Medicine
state: Texas
city: Seattle
country: United States
facility: Seattle Children's Hospital and Regional Medical Center
state: Washington
city: Hamilton
country: Canada
facility: McMaster University
state: Ontario
Study officials:
affiliation: Columbia University
name: Michio Hirano, MD
role: STUDY_DIRECTOR
References: