Clinical trial NCT01735188: A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
Official title: A Natural History Study Of Molybdenum Cofactor And Isolated Sulfite Oxidase Deficiencies
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Molybdenum Cofactor Deficiency
Isolated Sulfite Oxidase Deficiency
Keywords: Natural history study
Lead sponsor: Origin Biosciences
Sponsor class: INDUSTRY
First posted: 2012-11-28
Enrollment: 65
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The actual sample size will depend on successful identification of at least 30 MoCD Type A patients

Brief summary: Primary objective:

Characterize the natural history of MoCD type A in terms of survival

Secondary objectives:

1. Evaluate blood and urine for biochemical markers
2. Evaluate head circumference, seizure activity and neurologic outcomes
3. To evaluate brain MRI
4. Compare blood and urine analysis, head circumference, seizure activity and neurologic outcomes to MRI findings


Eligibility criteria: Inclusion Criteria:

1. Both living and deceased patients of any age will be considered for study inclusion.
2. Diagnosis of MoCD or isolated SOX deficiency
3. Documented informed consent

Exclusion Criteria:

1. MoCD Type A patient who was in Study ALX-MCD-501
2. Deceased patients with unknown genotype (as of Amendment 4)

Primary outcomes:
measure: To characterize the natural history of molybdenum cofactor deficiency (MoCD) type A, the most common subtype of MoCD, in terms of survival
timeFrame: 12 months
Secondary outcomes:
measure: To evaluate levels of the biochemical markers S-sulfocysteine (SSC), uric acid, and xanthine in blood, urine, and cerebral spinal fluid over time in patients with MoCD and isolated sulfite oxidase (SOX) deficiency.
timeFrame: 12 months
Other outcomes:
Locations:
city: Boston
country: United States
facility: Massachusetts General Hospital
state: Massachusetts
city: Charlottesville
country: United States
facility: UVA Health System
state: Virginia
city: Woodinville
country: United States
facility: Woodinville Pediatrics PLLC
state: Washington
city: Toronto
country: Canada
facility: Hospital for Sick Children
city: Freiburg
country: Germany
facility: Universitätsklinikum Freiburg
city: Mainz
country: Germany
facility: Universitätsmedizin der Johannes Gutenberg-Universität Mainz
city: München
country: Germany
facility: TU Universitätsklinikum München
city: Offenbach
country: Germany
facility: Fachärztin für Kinder und Jugendmedizin
city: Afula
country: Israel
facility: HaEmek Medical Center
city: Haifa
country: Israel
facility: Rambam Medical Center
city: Rome
country: Italy
facility: Ospedale Pediatrico Bambin Gesu - Roma
city: Wakayama
country: Japan
facility: Wakayama Medical University
city: Kuala
country: Malaysia
facility: Kuala Lumpur Hospital
city: Groningen
country: Netherlands
facility: Beatrix Children's Hospital
city: Leiden
country: Netherlands
facility: Leiden University Medical
city: Warsaw
country: Poland
facility: The Children's Memorial Health Institute
city: Riyadh
country: Saudi Arabia
facility: King Fahad Medical City
city: Riyadh
country: Saudi Arabia
facility: Prince Sultan Riyadh Military Medical City
city: Badalona
country: Spain
facility: Germans Trias i Pujol University Hospital
city: Esplugues de Llobregat
country: Spain
facility: Hospital Sant Joan de Déu Barcelona
city: Madrid
country: Spain
facility: Hospital Universitario 12 de Octubre
city: Santiago de Compostela
country: Spain
facility: Hospital Clinico Universitario
city: Sevilla
country: Spain
facility: Hospital Universitario Virgen del Rocio
city: Tunis
country: Tunisia
facility: La Rabta Hospital
city: Ankara
country: Turkey
facility: Ihsan Dogramaci Children's Hospital
city: Antalya
country: Turkey
facility: Akdeniz University Hospital
city: Izmit
country: Turkey
facility: Çocuk Sağlığı ve Hastalıkları Anabilim Dalı
city: Kayseri
country: Turkey
facility: Kayseri Education and Research Hospital
city: Birmingham
country: United Kingdom
facility: Birmingham Children's Hospital
city: Glasgow
country: United Kingdom
facility: Royal Hospital for Sick Children
city: London
country: United Kingdom
facility: Great Ormond Street Hospital for Children
city: Manchester
country: United Kingdom
facility: Manchester Academic Health Science Centre
Study officials:
References: